Radiology Review Manual
6th Edition

Obstetrics and Gynecology
Differential Diagnosis of Obstetric and Gynecologic Disorders
2 obstetrics
Parity Nomenclature (for pregnancies <20 weeks)
example: G5P4004
Gravida 5 pregnancies
Parity  
mnemonic: FPAL
Full term 4 full term
Preterm 0 preterm
Abortion 0 abortion
Living 4 living
Level I Obstetric Ultrasound
Indication: MS-AFP ≥2.5 multiples of mean (MoM) between 14 and 18 weeks MA
  • Limited scope of examination to identify frequent causes of MS-AFP elevation in 20–50% of pregnancies:
    • Gestational age ≥2 weeks more advanced than estimated clinically (18%)
    • Multiple gestations (10%)
    • Unsuspected fetal demise (5%)
    • Obvious fetal NTD / abdominal wall defect
    Outcome: no cause identified in 50–80%
  • Recommendation if level I ultrasound is unrevealing:
    • amniocentesis for AF-AFP (with normal results in >90%)
    • level II obstetric ultrasound (skipping amniocentesis)
Level II Obstetric Ultrasound
Indication: AF-AFP ≥2 MoM
Accuracy: identification of abnormal fetuses in 99%
  • Examination targeted for:
    • Open neural tube defect:
      • anencephaly, encephalocele, open spina bifida, amniotic band syndrome resulting in open neural tube defect
    • Closed neural axis anomaly:
      • hydrocephalus, Dandy-Walker malformation
    • Abdominal wall defect:
      • gastroschisis, omphalocele, gastropleuroschisis from amniotic band syndrome
    • Upper GI obstruction:
      • esophageal atresia ± tracheoesophageal fistula, duodenal obstruction
    • Cystic hygroma
    • Teratoma:
      • sacrococcygeal, lingual, retropharyngeal
    • Renal anomalies:
      Alpha-fetoprotein Levels
      Sample Site Approximate Level (ng/mL) Peak
      Maternal serum 30 30th–32nd week
      Amniotic fluid 20,000 2nd trimester
      Fetal plasma 3,000,000 14th–15th week
      • obstructive uropathy, renal agenesis, multicystic dysplastic kidney, congenital Finnish nephrosis
  • Risk of fetal chromosomal anomaly is only 0.6–1.1% with normal level II sonogram!
Maternal serum screening
Alpha-fetoprotein
  • = glycoprotein as major circulatory protein of early fetus
Origin: formed initially by yolk sac + fetal gut (4–8 weeks), later by fetal liver
  • Detectable in
    • fetal serum
      • concentration peaks at 14–15 weeks followed by progressive decline
    • amniotic fluid (AF-AFP) is a result of
      • –fetal urination
      • –fetal gastrointestinal secretions
      • –transudation across fetal membranes (amnion, placenta)
      • –transudation across immature fetal epithelium
      • • concentration peaks early in 2nd trimester followed by progressive decline
    • maternal circulation (MS-AFP) secondary to leakage from amniotic fluid across the placenta
      • • levels start to rise at 7th week, peak at 32nd week, and decline toward end of pregnancy
      • Either high / low MS-AFP is associated with 34% of all major congenital defect
  • At the end of the 1st trimester AFP is present:
    in fetal plasma in milligram quantities
    in amniotic fluid in microgram quantities
    in maternal serum in nanogram quantities
    Reported in MoM = multiples of mean to standardize interpretation among laboratories
Elevated Alpha-fetoprotein
  • • screening at 16–18 weeks GA
  • Values must be corrected for dates, maternal weight, race, presence of diabetes (diabetes has depressing effect on MS-AFP so that lower levels may be associated with NTDs)
  • Associated with:
    • LABORATORY ERROR
    • ERRONEOUS DATES (18%):
      • GA ≥2 weeks more advanced sonographically than by clinical estimate (AFP levels rise 15% per week during 16–18-week window)
    • MULTIPLE GESTATIONS (14%)
    • FETAL DEMISE (7%) / fetal distress / threatened abortion
    • FETAL ANOMALIES (61%)
      • Neural tube defects (51%):
        • [anencephaly (30%), myelomeningocele (18%), encephalocele (3%), forebrain malformation]
          P.996

          Prevalence: 1.6:1,000 births in USA; 6:1,000 births in Great Britain
        • In 90% as 1st time event!
          Risk of recurrence: 3% after one affected child; 6% after 2 affected children
      • Ventral wall defects (21%)
        • (gastroschisis, omphalocele): sensitivity of 50%
      • Proximal fetal gut obstruction
        • (esophageal / duodenal atresia)
        • = diminished AFP degradation in small bowel
      • Cystic hygroma, teratoma (pharyngeal, sacral)
      • Amniotic band syndrome
        • (asymmetric cephalocele, gastropleuroschisis)
      • Renal abnormalities:
        • multicystic dysplastic kidney, renal agenesis, pelviectasis, congenital Finnish nephrosis (typically ≥10 MoM + negative amniotic fluid acetylcholinesterase)
      • Oligohydramnios
    • PLACENTAL LESION
      • altering the placentomaternal barrier
        • Chorioangioma
        • Peri- and intraplacental hematoma
          • resulting in fetomaternal hemorrhage
        • Placental lakes, infarct, intervillous thrombosis
    • LOW BIRTH WEIGHT
    • Normal pregnancy + MATERNAL DISORDER
      • Hepatitis
      • Hepatoma
    • Fetal-maternal blood mixing:
      • collection of MS-AFP samples after amniocentesis
        mnemonic: GEM MINER CO
      • Gastroschisis
      • Esophageal atresia
      • Multiple gestations
      • Mole
      • Incorrect menstrual dates
      • Neural tube defects
      • Error (laboratory)
      • Renal disease in fetus (autosomal recessive polycystic kidney disease, renal dysplasia, obstructive uropathy, congenital Finnish nephrosis)
      • Chorioangioma
      • Omphalocele
Elevated Maternal Serum AFP (MS-AFP)
  • = defined as ≥2.5 MoM / equivalent to the 5th percentile; 4.5 MoM for multiple gestations
  • Power of detection at ≥2.5 MoM cutoff:
    • 98% of gastroschisis
    • 90% of anencephalic fetuses
    • 75–80% of open spinal defects
    • 70% of omphaloceles
    Incidence: 2–5% screen-positive rate (in 16% normal MS-AFP on retesting); 6–15% of fetuses have some type of major congenital defect; in 1.3:1,000 tests fetal anomaly detected
  • The higher the AFP elevation the higher the probability of fetal anomalies
  • 20–38% of women with unexplained high MS-AFP (ie, in absence of fetal abnormality) suffer adverse pregnancy outcomes (premature birth, preeclampsia, 2–4 × IUGR, 10 × perinatal mortality, 10 × placental abruption)!
Elevated Amniotic Fluid AFP (AF-AFP)
  • = defined as ≥2 MoM (<2 MoM has a 97% NPV)
    Incidence: <10% of women with elevated MS-AFP and “unrevealing” level I US exam
  • • amniotic fluid also tested for karyotype + acetylcholinesterase (= neurotransmitter enzyme present when neural tissue is exposed)
  • 66% of fetuses of women with elevated AF-AFP levels are normal!
  • A targeted level II ultrasound exam will show fetal anomalies in 33%!
Low Alpha-fetoprotein
  • = MS-AFP ≥0.5 / AF-AFP ≥0.72 MoM
Incidence: 3%
  • Autosomal trisomy syndromes (trisomy 21, 18, 13)
    • 20% of trisomy 21 fetuses are found in women with low MS-AFP after adjustment for age!
  • Absence of fetal tissues (eg, hydatidiform mole)
  • Fetal demise
  • Misdated pregnancy
  • Normal pregnancy
  • Patient not pregnant
Use of Karyotyping
Frequency: 11–35% of fetuses with sonographically identified abnormalities have chromosomal abnormalities
  • FETAL ANOMALIES
    • CNS anomalies: holoprosencephaly (43–59%), Dandy-Walker malformation (29–50%), cerebellar hypoplasia, agenesis of corpus callosum, myelomeningocele (33–50%)
    • Cystic hygroma (72%): Turner syndrome
    • Omphalocele (30–40%)
    • Cardiac malformations
    • Nonimmune hydrops
    • Duodenal atresia
    • Severe early-onset IUGR: trisomy 18, 13, triploidy
    • Diaphragmatic hernia
    • Bone-echodense bowel (20%): trisomy 21
  • MATERNAL RISK FACTORS
    • Advanced age
    • Low serum alpha-fetoprotein
    • Abnormal triple screen of maternal serum
    • History of previous chromosomally abnormal pregnancy (1% risk of recurrence)
  • PLANNED INTENSE INTRAUTERINE MANAGEMENT
  • Fetal anomalies not associated with chromosomal anomalies:
    • Gastroschisis
    • Unilateral renal anomaly
    • Intestinal obstruction distal to duodenal bulb
    • Off-midline unilateral cleft lip
    • P.997

    • Fetal teratoma (sacrococcygeal / anterior cervical)
    • Isolated single umbilical artery
Amniotic fluid volume
  • Production:
    • 1st trimester: dialysate of maternal + fetal serum across the noncornified fetal skin
    • 2nd + 3rd trimester: fetal urine (600–800 cm3/day near term), fetal lungs (600–800 cm3/day near term), amniotic membrane
  • Absorption:
    • fetal swallowing + GI absorption, fetal lung absorption, clearance by placenta
  • Assessment of amniotic fluid volume by:
    • Subjective assessment (“Gestalt” method):
      • quick + efficient, accounts for GA-related variations in fluid volume, considered the most accurate if performed by experienced operator, operator + interpreter must be identical, no documentation, variations on serial scans difficult to appreciate
    • Depth of largest vertical pocket:
      • simple + quick (used in BPP), pockets >2 cm may be found in crevices between fetal parts with moderately severe oligohydramnios, does not account for GA-related variations
    • Four-quadrant Amniotic Fluid Index (AFI):
      • fairly quick, probably correlates better with fluid volume than any single measurement, may not accurately reflect overall fluid volume, may be affected by fetal movement during measurements
        Structural Defect Incidence Aneuploidy
            Risk Most common
        Cystic hygroma 1:6,000 60-75% 45X,21,18,13, XXY
        Hydrops 1:4,000 30–80% 13,21,18,45X
        Holoprosencephaly 1:16,000 40–60% 13,18,18p
        Cardiac defects 1:125 5–30% 21,18,13,22
        AV canal 40–70% 21
        Omphalocele 1:5,800 30–40% 13,18
        Duodenal atresia 1:10,000 20–30% 21
        Diaphragmatic hernia 1:4,000 20–25% 13,18,21,45X
        Bladder outlet obstruction 1:1,000 20–25% 13,18
        Limb reduction 1:2,000 8% 18
        Clubfoot 1:830 6% 18,13,4p-,18q-
        Hydrocephalus 1:1,250 3–8% 13,18, triploidy
        Facial cleft 1:700 1% 13,18, deletions
        Prune belly 1:40,000 low 18,13,45X
        Single umbilical artery 1:100 minimal  
        Bowel obstruction 1:4,000 minimal  
        Gastroschisis 1:12,000 minimal  
    • Planimetric measurement of total intrauterine volume
    • Dye / para-amino hippurate dilution technique:
      • 800 cm3 at 34 weeks, 500 cm3 >34 weeks
Polyhydramnios
  • = amniotic fluid volume >1,500–2,000 cm3 at term
    Incidence: 1.1–2–3.5%
  • fetus does not fill the AP diameter of uterus
  • single largest pocket devoid of fetal parts / cord >8 cm in vertical direction
  • AFI ≥20–24 cm
    Prognosis: 64% perinatal mortality with severe polyhydramnios
  • Etiology:
    • IDIOPATHIC (35%)
      Associated with: macrosomia in 19–37%
      Suggested cause:  
      • increased renal vascular flow
      • bulk flow of water across surface of fetus + umbilical cord + placenta + membranes
    • MATERNAL CAUSES (36%)
      • Diabetes (25%)
      • Isoimmunization [Rh incompatibility (11%)]
      • Placental tumors: chorioangioma
    • FETAL ANOMALIES (20%)
      • gastrointestinal anomalies (6–16%):
        • impairment of fetal swallowing (esophageal atresia in 3%); high intestinal atresias / obstruction of duodenum / proximal small bowel (1.2–1.8%), omphalocele, meconium peritonitis
      • nonimmune hydrops (16%)
      • neural tube defects (9–16%):
        • anencephaly, hydranencephaly, holoprosencephaly, myelomeningocele, ventriculomegaly, agenesis of corpus callosum, encephalocele, microcephaly
      • chest anomalies (12%):
        • diaphragmatic hernia, cystic adenomatoid malformation, tracheal atresia, mediastinal teratoma, primary pulmonary hypoplasia, extralobar sequestration, congenital chylothorax
      • skeletal dysplasias (11%):
        • dwarfism (thanatophoric dysplasia, achondroplasia), kyphoscoliosis, platyspondyly
      • chromosomal abnormalities (9%):
        • trisomy 21, 18, 13
      • cardiac anomalies (5%):
        • VSD, truncus arteriosus, ectopia cordis, septal rhabdomyoma, arrhythmia
      • genitourinary malformations:
        • unilateral UPJ obstruction, unilateral multicystic dysplastic kidney, mesoblastic nephroma
        Cause: ? hormonally mediated polyuria
      • miscellaneous (8%):
        • cystic hygroma, facial tumors, cleft lip / palate, teratoma, amniotic band syndrome, congenital pancreatic cyst
      • In polyhydramnios efforts to detect fetal anomalies should be directed at SGA fetuses!
        mnemonic: TARDI
  • Twins
  • P.998

  • Anomalies, fetal
  • Rh incompatibility
  • Diabetes
  • Idiopathic
Oligohydramnios
  • = amniotic fluid volume <500 cm3 at term
  • single largest pocket devoid of fetal parts / cord ≥1–2 cm in vertical direction
  • AFI ≥5–7 cm
    Etiology:  
    mnemonic: DRIPP
    • Demise of fetus / Drugs (Motrin therapy for tocolysis of preterm labor)
    • Renal anomalies, bilateral (= inadequate urine production): renal agenesis / dysgenesis, infantile polycystic kidney disease, prune belly syndrome, posterior urethral valves, urethral atresia, cloacal anomalies
      • 20-fold increase in incidence of fetal anomalies with oligohydramnios!
        N.B.: bilateral renal obstruction, if combined with intestinal obstruction, may be associated with polyhydramnios
    • IUGR (reduced renal perfusion)
    • Premature rupture of membranes (most common)
    • Postmaturity
Cx: pulmonary hypoplasia, cord compression
Prognosis: 77–100% perinatal mortality with 2nd trimester oligohydramnios
Abnormal first trimester findings
Time of onset: prior to 8–10 weeks
First Trimester Bleeding
  • = VAGINAL BLEEDING IN FIRST TRIMESTER
Frequency: 15–25% of all pregnancies, of which 50% terminate in abortion
  • INTRAUTERINE conceptus IDENTIFIED
    • Threatened abortion
    • Embryonic demise
    • Blighted ovum
    • Gestational trophoblastic disease
    • Implantation bleed (3–4 weeks after last menstrual period)
    • Subchorionic hemorrhage
    • Low-lying placenta previa
    • Twin loss
  • NORMAL ENDOMETRIAL CAVITY
    • with β-hCG level >1,800 mlU/mL
      • Recent spontaneous abortion
      • Ectopic pregnancy
    • with β-hCG level <1,800 mlU/mL
      • Very early IUP
      • Ectopic pregnancy
  • SAC VULNERABILITY
    • Leiomyoma
    • Intrauterine contraceptive device
Abnormal Sonographic Findings in 1st Trimester
  • Embryonic demise = abortion (clinical term)
  • Nondevelopment = blighted ovum
  • Maldevelopment = hydatidiform mole
Empty Gestational Sac
  • Normal early IUP between 5 and 7 weeks MA
  • Blighted ovum
DDx: Pseudosac of ectopic pregnancy
Gestational Sac in Low Position
  • Abortion in progress
    • no placental blood flow
  • Cervical ectopic pregnancy
  • Fundal fibroid compressing sac downward
Positive β-hCG without IUP
mnemonic: HERE
  • HCG-producing tumor (rare)
  • Ectopic pregnancy
  • Recent / incomplete abortion
  • Early intrauterine pregnancy
Thickened Central Cavity Complex
  • Intrauterine blood
  • Retained products of conception following an incomplete spontaneous abortion
  • Early intrauterine not yet visible pregnancy
  • Decidual reaction secondary to ectopic pregnancy
Uterus Large for Dates
  • Multiple gestation pregnancy
  • Inaccurate menstrual history
  • Fibroids
  • Polyhydramnios
  • Hydatidiform mole
  • Fetal macrosomia
Intrauterine membrane in pregnancy
  • MEMBRANE OF MATERNAL ORIGIN
    • Uterine septum
      • = incomplete resorption of sagittal septum between the fused two müllerian ducts
    • Amniotic sheet / shelf
      • = folding of amniochorionic membrane around uterine synechia
      • synechia often thins during uterine stretching + disappears as pregnancy progresses
  • MEMBRANE OF FETAL ORIGIN
    • Intertwin membrane
      • = apposing membrane of multiple pregnancy
    • Amniotic band
      • = rent within amnion
    • Chorioamnionic separation
      • = incomplete fusion / hemorrhagic separation of amnion (= inner membrane) and chorion (= outer membrane)
    • Subchorionic hemorrhage = chorioamnionic elevation
      • = separation of chorionic membrane from decidua
      • • implantation bleed of early pregnancy
  • P.999

  • FIBRIN STRAND
    Cause: hemorrhage during transplacental amniocentesis
    mnemonic: STABS
    • Separation (chorioamnionic)
    • Twins (intertwin membrane)
    • Abruption
    • Bands (amniotic band syndrome)
    • Synechia
Dilated Cervix
  • Inevitable abortion
  • Premature labor
    • = spontaneous onset of palpable, regularly occurring uterine contractions between 20 and 37 weeks MA
  • Incompetent cervix
Placenta
Abnormal Placental Size
  • Placental mass tends to reflect fetal mass!
  • ENLARGEMENT OF PLACENTA = Placentomegaly
    • = >5 cm thick in sections obtained at right angles to long axis of placenta
      • maternal disease
        • Maternal diabetes (= villous edema)
        • Chronic intrauterine infections (eg, syphilis)
        • Maternal anemia (= normal histology)
        • Alpha-thalassemia
      • fetal disease
        • Hemolytic disease of the newborn (= villous edema + hyperplasia) due to immunologic incompatibility including Rh sensitization
        • Umbilical vein obstruction
        • Fetal high-output failure:
          • large chorioangioma, arteriovenous fistula
        • Fetal malformation:
          • Beckwith-Wiedemann syndrome, sacrococcygeal teratoma, chromosomal abnormality, fetal hydrops
        • Twin-twin transfusion syndrome
      • fetomaternal hemorrhage
      • placental abnormalities
        • Molar pregnancy
        • Chorioangioma
        • Intraplacental hemorrhage
          mnemonic: HAD IT
          • Hydrops
          • Abruption
          • Diabetes mellitus
          • Infection
          • Triploidy
  • DECREASE IN PLACENTAL SIZE
    • Preeclampsia
      • associated with placental infarcts in 33–60%
    • IUGR
    • Chromosomal abnormality
    • Intrauterine infection
Vascular Spaces of the Placenta
  • Placental cysts
    • = large fetal veins located between amnion + chorion anastomosing with umbilical vein
    • sluggish blood flow (detectable by real-time observation)
  • Basal veins
    • = decidual + uterine veins
    • lacy appearing network of veins underneath placenta
      DDx: placental abruption
  • Intraplacental venous lakes
    • intraplacental sonolucent spaces
    • whirlpool motion pattern of flowing blood
Macroscopic Lesions of the Placenta
  • Intervillous thrombosis (36%)
    • = intraplacental areas of hemorrhage
      Etiology: breaks in villous capillaries with bleeding from fetal vessels
    • irregular sonolucent intraplacental lesions (mm to cm range)
    • blood flow may be observed within lesion
      Significance: fetal-maternal hemorrhage (Rh sensitization, elevated AFP levels)
  • Perivillous fibrin deposition (22%)
    • = nonlaminated collection of fibrin deposition
      Etiology: thrombosis of intervillous space
      Significance: none
  • Septal cyst (19%)
    Etiology: obstruction of septal venous drainage by edematous villi
    • 5–10-mm cyst within septum
    Significance: none
  • Placental infarct (25%)
    • = coagulation necrosis of villi
      Etiology: disorder of maternal vessels, retroplacental hemorrhage
    • not visualized unless hemorrhagic
    • well-circumscribed mass with hyperechoic / mixed echo pattern
      Significance: dependent on extent + associated maternal condition
  • Subchorionic fibrin deposition (20%)
    • = laminated collection of fibrin deposition
      Etiology: thrombosis of maternal blood in subchorionic space
    • subchorionic sonolucent area
      Significance: none
  • Massive subchorial thrombus
    • = Breus MOLE = preplacental HEMORRHAGE
Placental Tumor
  • TROPHOBLASTIC
    • Complete hydatidiform mole
    • Partial hydatidiform mole
    • Invasive mole
    • Choriocarcinoma
  • Nontrophoblastic
    • Chorioangioma (in up to 1% of placentas)
    • Teratoma (rare)
    • P.1000

    • Metastatic lesion (rare): melanoma, breast carcinoma, bronchial carcinoma
Unbalanced Intertwin Transfusion
  • = unbalanced intertwin transfusion through vascular anastomoses between the two circulations of monochorionic twins
  • ACUTE = Twin-embolization syndrome
  • CHRONIC = Twin-twin transfusion syndrome
  • REVERSE = Acardiac twinning
Umbilical cord
Abnormal Cord Attachment
  • Marginal cord attachment (7%)
    • = battledore placenta (flat wooden paddle used in an early form of badminton)
    • • no clinical significance
  • Velamentous insertion of cord (1%)
  • Vasa previa
Umbilical Cord Lesions
  • Umbilical cord cysts persisting into 2nd + 3rd trimester are frequently accompanied by fetal anomalies (hernia, intestinal obstruction, urinary tract obstruction, urachal anomalies, omphalocele, cardiac defect, trisomy 18)!
  • DEVELOPMENTAL CORD LESION
    • Umbilical hernia
      • = protrusion from anterior abdominal wall with normal insertion of umbilical vessels
      • Predisposed:
        • Blacks, low-birth-weight infants, trisomy 21, congenital hypothyroidism, Beckwith-Wiedemann syndrome, mucopolysaccharidoses
          Prognosis: spontaneous closure in first 3 years of life
    • Omphalomesenteric duct cyst
      • near fetal end of cord + eccentric in cord
    • Allantoic cyst
      • = remnant of umbilical vesicle / allantois; usually degenerates by 6 weeks
        Histo: lined by single layer of flattened epithelium
      • near fetal end of cord + in center of cord
    • Amniotic inclusion cyst
      • = amniotic epithelium trapped within umbilical cord
    • Mucoid degeneration of umbilical cord
      • = umbilical cord pseudocyst
      • = liquefaction of Wharton jelly / edema
      • focal thickening of Wharton jelly, usually near umbilicus
      • usually resolved by 12 weeks MA
      • Associated commonly with omphalocele
    • Noncoiled “straight” cord
      • counterclockwise:clockwise umbilical cords = 7:1
      • right-handed:left-handed persons = 7:1
        Incidence: 3.7–5%
      • absent vascular coiling for entire length of visible cord
        At risk for: intrauterine death (8%), stillbirth, fetal anomalies (24%), prematurity, intrapartum heart rate decelerations, fetal distress, meconium staining
  • ACQUIRED CORD LESION
    • False knot
      • exaggerated looping of cord vessels causing focal dilatation of cord
      • focal accumulation of Wharton jelly
      • varix of umbilical vessel
      • knoblike protrusion / bulge of cord
    • True knot
      Incidence: 1% of pregnancies
      Cause: excessive fetal movements
      Predisposed: long cord, polyhydramnios, small fetus, monoamniotic twins
      • local distension / thrombosis of umbilical vein near cord knot resembling an umbilical cyst
      • tortuosity of cord at level of knot
        Cx: vascular occlusion + fetal death in utero
        OB management: expectant
    • Umbilical cord hematoma
      • = rupture of the wall of the umbilical vein secondary to mechanical trauma (torsion, loops, knots, traction) / congenital weakness of vessel wall
        Incidence: 1:5,505 to 1:12,699 deliveries
        Location: near fetal insertion of umbilical cord (most common)
      • hyper- / hypoechoic mass 1–2 cm in size, multiple (in 18%)
        Cx: rupture into amniotic cavity with exsanguination
        Prognosis: 52% overall perinatal fetal mortality
    • Neoplasm
      • Angiomyxoma / hemangioma of cord
        Incidence: 22 cases in literature
        Histo: multiple vascular channels lined by benign endothelium surrounded by edema + myxomatous degeneration of Wharton jelly
        Associated with: elevated α-fetoprotein level
        Location: more frequently near placental end of umbilical cord
        • hyperechoic / multicystic mass within cord
        • may be associated with pseudocyst
          • (= localized collection of edema)
            Cx: premature delivery, stillbirth, hydramnios, nonimmune hydrops, massive hemorrhage due to rupture
      • Other tumors: myxosarcoma, dermoid, teratoma
    • Umbilical vein varix
      Incidence: <4% of all umbilical cord abnormalities
      Site: intraamniotic, intraabdominal
      • fusiform dilatation of umbilical vein
      Cx: (1) Thrombosis with subsequent fetal death
        (2) Partial thrombosis with IUGR
      Prognosis: usually no clinical significance
    • Umbilical artery aneurysm
P.1001

Small-for-gestational age fetus (SGA)
  • = generic clinical term describing a group of perinates at / below the 10th percentile for gestational age without reference to etiology
  • Fetus of appropriate growth (misdiagnosed as small)
  • Small normal fetus = constitutionally small fetus (80–85%)
    • No indication for surveillance / intervention!
  • Small abnormal fetus = primary growth failure associated with karyotype anomaly / fetal infection (5–10%)
    • Active intervention is of no benefit!
  • Dysmature fetus = IUGR = growth failure as a result of uteroplacental insufficiency (10–15%)
    • Intensive management is likely of benefit!
Fetal Overgrowth Disorder
  • Beckwith-Wiedemann syndrome
  • Simpson-Golabi-Behmenl syndrome
  • Perlmann syndrome
Fetal skeletal dysplasia
  • = DWARFISM
  • = heterogeneous group of bone growth disorders resulting in abnormal shape + size of the skeleton
  • More than 200 skeletal dysplasias are known, but only a few are frequent:
    • thanatophoric dysplasia
    • osteogenesis imperfecta type II
    • achondrogenesis
    • heterozygous achondroplasia
  • Birth prevalence:
    • 3:10,000–7.6:10,000 births for all skeletal dysplasias;
    • 5:10,000 births for lethal skeletal dysplasias
      Finding Perlman BWS SGBS
      Macrosomia X X X
      Polyhydramnios X X X
      Hepatomegaly X X X
      Nephromegaly X X X
      Hydronephrosis X X X
      Cystic hygroma X    
      Choroid plexus cyst X    
      Agenesis of corpus callosum X    
      Ascites X    
      Macrocephaly X   X
      Cardiomegaly X X  
      Cardiac defects   X X
      Macroglossia   X X
      Cleft lip / palate   X X
      Hydrops   X X
      Placentomegaly   X  
      Omphalocele / umbilical hernia   X  
      Polydactyly / syndactyly     X
      BWS = Beckwith-Wiedemann syndrome;
      SGBS =Simpson-Golabi-Behmenl syndrome
        Birth Prevalence Perinatal Deaths
      Thanatophoric dysplasia 0.69:10,000* 1:246
      Achondroplasia 0.37:10,000* none
      Achondrogenesis, type I 0.23:10,000* 1:639
      Achondrogenesis, type II 0.25:10,000*  
      Osteogenesis imperf. type II 0.18:10,000* 1:799
      Osteogenesis imperf., others 0.18:10,000* none
      Asphyxiating thoracic dysplasia 0.14:10,000*  
      Hypophosphatasia 0.10:10,000*  
      Chondrodysplasia punctata, rhizo 0.09:10,000* none
      Camptomelic dysplasia 0.05:10,000* 1:3,196
      Chondroectodermal dysplasia 0.05:10,000* 1:3,196
      Cleidocranial dysplasia 0.05:10,000*  
      Diastrophic dysplasia 0.02:10,000*  
        “* = lethal dysplasias”  
      Prognosis: 51% lethal due to hypoplastic lungs:
        23% stillbirths, 32% death in 1st week of life
  • Associated with:
    • polyhydramnios
    • small thorax
    • morphologically abnormal bones
  • shortening of long bones (common characteristic)
    • Femur length >5 mm below 2 standard deviations suggests skeletal dysplasia!
  • femur length / foot length ratio <0.9
  • moderate limb shortening of 40–60% of the mean in thanatophoric dysplasia + OI type II
  • severe limb shortening of >30% of the mean in achondrogenesis
    DDx features: mineralization, bowing, fractures, number of digits, fetal movement, thoracic measurement, associated anomalies, age of onset
    DDx: constitutionally short limbs, severe IUGR
  • see also DWARFISM
Fetal Hand Malformation
Polydactyly
  • trisomy 13, short-rib-polydactyly syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Smith-Lemli-Opitz syndrome
    • Postaxial polydactyly
      • chondroectodermal dysplasia (Ellis-van Creveld syndrome), Meckel-Gruber syndrome, hydrolethalus syndrome
    • Preaxial polydactyly
      • orofaciodigital syndrome
Syndactyly
  • Apert syndrome, triploidy, Roberts syndrome
Clinodactyly
  • trisomy 21, triploidy
Overlapping Digit
  • trisomy 18
P.1002

Hitchhiker’s Thumb
  • diastrophic dysplasia
Flexion Contractures
  • trisomy 13 + 18, fetal akinesia deformation sequence
Limb Reduction
  • congenital varicella, hypoglossia-hyperdactyly syndrome
Amputation
  • amniotic band syndrome
Fetal CNS anomalies
Incidence: 2:1,000 births in USA; 90% as 1st time occurrence
Recurrence: 2–3% after 1st, 6% after 2nd occurrence
  • ventricular atrium + cisterna magna are two sensitive anatomic markers for normal brain development!
  • HYDROCEPHALUS
    • Aqueductal stenosis
    • Communicating hydrocephalus
    • Dandy-Walker malformation
    • Choroid plexus papilloma
  • NEURAL TUBE DEFECT
    Incidence: 1:500–600 live births
    Risk of recurrence: 3–4%
    • Spina bifida
    • Anencephaly
    • Acrania
    • Encephalocele (8–15%)
    • Porencephaly
    • Hydranencephaly
    • Holoprosencephaly
    • Iniencephaly
    • Microcephaly
    • Agenesis of corpus callosum
    • Lissencephaly
    • Arachnoid cyst
    • Choroid plexus cyst
    • Vein of Galen aneurysm
    Associated with: trisomy 13 and 18
    Increased risk: low parity, low socioeconomic status, relative infertility, diabetes, obesity, anticonvulsants, folate deficiency
  • INTRACRANIAL NEOPLASM
    • Teratoma (>50%): benign / malignant
      Location: originate from base of skull
    • Glioblastoma
    • Astrocytoma
Fetal Ventriculomegaly
  • Cause:
    • Morphologic anomaly (70–80%):
      • Spina bifida (30–65%)
      • Dandy-Walker malformation
      • Encephalocele
      • Holoprosencephaly
      • Agenesis of corpus callosum
    • Abnormal karyotype (10–20%)
    • Viral infection
    • 20–40% of concurrent anomalies are missed by ultrasound!
  • “dangling” choroid plexus
  • width of ventricular atrium >10 mm
Prognosis: 21% survival rate; 50% with intellectual impairment
Isolated Mild Ventriculomegaly
  • = atrial width of 10–15 mm
    Prevalence: 1:700 in low-risk population
      ♢ Most common brain anomaly on prenatal sonograms
  • Associated structural anomalies (9%):
    • periventricular leukomalacia, subependymal / germinal matrix hemorrhage, partial agenesis of corpus callosum, heterotopia, parenchymal dysplasia
      Associated chromosomal anomalies: in 4%
      Recommendation: MRI to diagnose associated structural anomalies
      Prognosis: 80% with isolated mild ventriculomegaly have normal motor + intellectual function at ≥12 months of age
Lemon Sign
  • = flat / inwardly scalloped contour of both frontal bones
  • Spina bifida
    Prevalence for fetuses ≥24 weeks: 98%
    • (90–93% sensitive, 98–99% specific, 84% PPV for high-risk population, 6% PPV for low-risk population)
      Prevalence for fetuses >24 weeks: 13%
    • (disappears in 3rd trimester)
  • Encephalocele
  • Agenesis of corpus callosum
  • Thanatophoric dysplasia
  • Cystic hygroma
  • Diaphragmatic hernia
  • Fetal hydronephrosis
  • Umbilical vein varix
  • Normal fetus (in 0.7–1.3%)
Prenatal Intracranial Calcifications
  • Toxoplasmosis
  • CMV infection
  • Tuberous sclerosis
  • Sturge-Weber syndrome
  • Venous sinus thrombosis
  • Teratoma
Cystic Intracranial Lesion
mnemonic: CHAP VAN
  • Choroid plexus cyst
  • Hydrocephalus, Holoprosencephaly, Hydranencephaly
  • Agenesis of corpus callosum + cystic dilatation of 3rd ventricle
  • Porencephaly
  • Vein of Galen aneurysm
  • Arachnoid cyst
  • Neoplasm (cystic teratoma)
Abnormal Cisterna Magna
  • Normal size between 15 and 25 weeks MA:
    • >2 to <10 mm (usually 4–9 mm) in 94–97% of fetuses
  • SMALL CISTERNA MAGNA + “banana sign”
    • Chiari II malformation (with myelomeningocele)
    • Occipital cephalocele
    • P.1003

    • Severe hydrocephalus
  • LARGE CISTERNA MAGNA
    • Megacisterna magna
      • cerebellum + vermis remain intact
    • Arachnoid cyst
      • en bloc displacement of cerebellum + vermis
    • Cerebellar hypoplasia
    • Dandy-Walker syndrome (with vermian agenesis)
Fetal orbital anomalies
Hypotelorism
  • Holoprosencephaly
  • Chromosomal abnormalities: trisomy 13
  • Microcephaly, trigonocephaly
  • Maternal phenylketonuria
  • Meckel-Gruber syndrome
  • Myotonic dystrophy
  • Williams syndrome
  • Oculodental dysplasia
Hypertelorism
  • Median cleft syndrome: cleft lip / palate
  • Craniosynostosis: Apert /Crouzon syndrome
  • Pena-Shokeir syndrome
  • Frontal / ethmoidal, sphenoidal encephalocele
  • Dilantin / phenytoin effect
Orbital and Periorbital Masses
  • Dacryocystocele
  • Anterior encephalocele
  • Glioma
  • Hemangioma
  • Teratoma
Fetal neck anomalies
  • Cervical myelomeningocele
  • Occipital cephalocele
  • Cystic hygroma / lymphangioma
  • Teratoma
  • Branchial cleft cyst
  • Enlarged thyroid
  • Sarcoma
Nuchal Skin Thickening
  • = NUCHAL SONOLUCENCY / FULLNESS / EDEMA
  • = skin thickening of posterior neck measured between calvarium + dorsal skin margin
    • ≥3 mm during 9–13 weeks MA
    • ≥5 mm during 14–21 weeks MA
    • ≥6 mm during 19–24 weeks MA
    • The smallest measurement should be used!
    Image plane: axial / transverse image (slightly craniad to that of the BPD measurement) that includes cavum septi pellucidi, cerebellar hemisphere and cisterna magna (transcerebellar diameter view)
    Incidence: among the most common anomaly in 1st trimester + early 2nd trimester
  • Cause:
    • NORMAL VARIANT (0.06%)
    • CHROMOSOMAL DISORDERS
      • trisomy 21 (in 45–80%), Turner syndrome (45 X0), Noonan syndrome, trisomy 18, XXX syndrome, XYY syndrome, XXXX syndrome, XXXXY syndrome, 18p-syndrome, 13q-syndrome
      • 30–40% of fetuses with Down syndrome have nuchal skin thickening!
    • nonchromosomal DISORDERS
      • Multiple pterygium syndrome = Escobar syndrome
      • Klippel-Feil syndrome (fusion of cervical vertebrae, CHD, deafness (30%), cleft palate
      • Zellweger syndrome = cerebrohepatorenal syndrome (large forehead, flat facies, macrogyria, hepatomegaly, cystic kidney disease, contractures of extremities)
      • Robert syndrome
      • Cumming syndrome
  • larger lymphangiomas with radiating septations are usually found with trisomy 18
  • nuchal fullness ≥3 mm during 1st trimester is seen in trisomy 21 / 18 / 13 (30–50% PPV)
  • often reverting to normal by 16–18 weeks
  • septations within nuchal translucency carries a 20- to 200-fold risk for chromosomal anomalies compared with normal
    Sensitivity: 2–44–75% for detection of trisomy 21
    Specificity: 99% for detection of trisomy 21
    PPV: 69%
    Positive screen: 1.2–3% in general population (exceeding 0.5% risk of amniocentesis)
    False positives: 0.5–2–8.5%
    OB management: thorough sonographic evaluation at 18–20 weeks MA
    DDx: chorioamnionic separation
Protruding Tongue
  • Macroglossia
  • Lymphangioma of the tongue
Macroglossia
  • Beckwith-Wiedemann syndrome
  • Down syndrome
  • Hypothyroidism
  • Mental retardation
Fetal chest anomalies
Pulmonary Hypoplasia
Path: absolute decrease in lung volume / weight for gestational age
  • Cause:
    • Prolonged oligohydramnios (20–25%)
    • Skeletal dysplasia (small thorax)
    • Intrathoracic mass (lung compression)
    • Large hydrothorax (lung compression)
    • Neurologic condition (reduced breathing activity)
    • Chromosomal abnormality
    • CHD with R-sided cardiac obstructing lesion
  • P.1004

  • thoracic circumference (TC) <5th percentile for EGA
  • declining TC:AC ratio from >0.80 (75% sensitive, 80–90% specific); not applicable for intrathoracic masses
Intrathoracic Mass
  • in order of frequency:
    • Diaphragmatic hernia / eventration
    • Cystic adenomatoid malformation
    • Bronchopulmonary sequestration
    • Bronchogenic cyst with bronchial compression
    • Bronchial atresia
Unilateral Chest Mass
  • Congenital diaphragmatic hernia
  • Cystic adenomatoid malformation
  • Bronchopulmonary sequestration
  • Bronchogenic cyst
  • Unilateral bronchial atresia / stenosis
Bilateral Chest Masses
  • Laryngeal / tracheal atresia
  • Bilateral cystic adenomatoid malformation
  • Bilateral congenital diaphragmatic herniae
Mediastinal Mass
  • Goiter
  • Cystic hygroma
  • Pericardial teratoma
  • Neuroblastoma
Cystic Chest Mass
  • Bronchogenic cyst
  • Enteric cyst
  • Neurenteric cyst
  • Cystic adenomatoid malformation (type I)
  • Congenital diaphragmatic hernia
  • Pericardial cyst
  • Mediastinal meningocele
Complex Chest Mass
  • Congenital diaphragmatic hernia
  • Cystic adenomatoid malformation (type I, II, III)
  • Pulmonary sequestration
  • Complex enteric cyst
  • Pericardial teratoma
Solid Chest Mass
  • Congenital diaphragmatic hernia (bowel ± liver)
  • Cystic adenomatoid malformation type III
  • Pulmonary sequestration
  • Obstructed lung from bronchial atresia, laryngeal atresia, bronchogenic cyst
  • Bronchopulmonary foregut malformation
  • Pericardial tumor
  • Heterotopic brain tissue
Regressing Fetal Chest Mass
  • Cystic adenomatoid malformation
  • Bronchopulmonary sequestration
Chest Wall Mass
  • Hemangioma
  • Cystic hygroma
  • Teratoma
  • Hamartoma
  • Thoracic myelomeningocele
Pleural Effusion
  • Primary idiopathic chylothorax (most common)
  • Hydrops fetalis (multiple causes)
  • Chromosome anomaly: trisomy 21, 45 XO (mostly)
  • Pulmonary lymphangiectasia / cystic hygroma
  • Lung mass: cystic adenomatoid malformation, bronchopulmonary sequestration, congenital diaphragmatic hernia, chest wall hamartoma (uncommon)
  • Pulmonary vein atresia
  • Idiopathic
Fetal cardiac anomalies
Incidence: 1:125 births = 0.8% of population; most common of all congenital malformations (40%)
  • 90% occur as isolated multifactorial traits with a recurrence risk of 2–4%
  • 10% are associated with multiple birth defects
  • responsible for 50% of childhood deaths from congenital malformations
  • Antenatal sonographic diagnosis to prompt cardiac evaluation:
    • ABNORMALITIES IN CARDIAC POSITION
    • CNS
      • Hydrocephalus
      • Microcephaly
      • Agenesis of corpus callosum
      • Encephalocele (Meckel-Gruber syndrome)
    • GASTROINTESTINAL
      • Esophageal atresia
      • Duodenal atresia
      • Situs abnormalities
      • Diaphragmatic hernia
    • VENTRAL WALL DEFECT
      • Omphalocele
      • Ectopia cordis
    • RENAL
      • Bilateral renal agenesis
      • Dysplastic kidneys
    • TWINS
      • Conjoined twins
Prenatal Risk Factors for Congenital Heart Disease
  • FETAL RISK FACTORS
    • Symmetric IUGR
    • Arrhythmias
      • fixed fetal bradycardia (50%) ≥ 110 bpm
      • tachycardia (low risk)
      • irregular: PACs, PVCs (low risk)
    • Abnormal fetal karyotype
      • (CHD in Down syndrome in 40%; in trisomy 18 / 13 in >90%; in Turner syndrome in 35%)
    • Extracardiac somatic anomalies by US
      • omphaloceles (20%), duodenal atresia, hydrocephaly, spina bifida, VACTERL
    • Nonimmune hydrops (30–35%)
    • Oligo- / polyhydramnios
  • P.1005

  • MATERNAL RISK FACTORS
    • Maternal heart disease (10%)
    • Insulin-dependent diabetes mellitus (4–5%)
    • Phenylketonuria (in 15% if maternal phenylalanine >15%)
    • Collagen vascular disease: SLE
    • Viral infection: rubella
    • Drugs
      • phenytoin (in 2% PS, AS, coarctation, PDA)
      • trimethadione (in 20% transposition, tetralogy, hypoplastic left heart)
      • sex hormones (in 3%)
      • lithium (7%): Ebstein anomaly, tricuspid atresia
      • alcohol (25% of fetal alcohol syndrome): VSD, ASD
      • retinoic acid = isotretinoin (?15%)
    • Paternal CHD (risk uncertain)
  • MENDELIAN SYNDROMES
    • Tuberous sclerosis
    • Ellis-van Creveld syndrome
    • Noonan syndrome
  • FAMILIAL RISK FACTORS FOR RECURRENCE OF HEART DISEASE
    — overall incidence : 6–8:1,000 live births
    — affected sibling : 1–4% (risk doubled)
    — affected parent : 2.5–4%
  • In 50% of neonates with CHD there is no identifiable risk factor!
  • Poor prognostic features:
    • Intrauterine cardiac failure (hydrops)
    • Severe trisomy (18, 13)
    • Hypoplastic left heart + endocardial fibroelastosis
    • Delivery in center without pediatric cardiology
In Utero Detection of Cardiac Anomalies
  • ABNORMAL HEART POSITION
    • Diaphragmatic hernia
    • Lung anomaly
    • Pleural effusion
    • Cardiac defect
  • CHAMBER ENLARGEMENT
    RA:     LA:
     1. Tricuspid regurgitation 1. Mitral stenosis
     2. Tricuspid valve dysplasia 2. Aortic stenosis
    3. Ebstein anomaly  
    RV:     LV:
     1. Coarctation 1. Aortic stenosis
     2. Normal in 3rd trimester 2. Cardiomyopathy
  • ABNORMAL FOUR-CHAMBER VIEW
    • Septal rhabdomyoma
    • Endocardial cushion defect
    • Ventricular septal defect
    • Ebstein anomaly
    • Single ventricle
  • VENTRICULAR DISPROPORTION
    • Hypoplastic right / left ventricle
    • Hypoplastic aortic arch
    • Aortic / subaortic stenosis
    • Coarctation of aorta
    • Ostium primum defect
  • INCREASED AORTIC ROOT DIMENSION
    • Tetralogy of Fallot
    • Truncus arteriosus
    • Hypoplastic left ventricle with transposition
  • DECREASED AORTIC ROOT DIMENSION
    • Coarctation of aorta
    • Hypoplastic left ventricle
  • 26–80% of serious cardiac anomalies can be detected on four-chamber view!
  • Increased sensitivity >20 weeks + by including outflow views!
Structural Cardiac Abnormalities & Fetal Hydrops
  • Atrioventricular septal defect + complete heart block
  • Hypoplastic left heart
  • Critical aortic stenosis
  • Cardiac tumor
  • Ectopia cordis
  • Dilated cardiomyopathy
  • Ebstein anomaly
  • Pulmonary atresia
Fetal Echocardiographic Views
  • FOUR-CHAMBER VIEW
    • Position of heart within thorax
    • Number of cardiac chambers
    • Ventricular proportion
    • Integrity of atrial + ventricular septa
    • Position + size + excursion of AV valves
  • PARASTERNAL LONG-AXIS VIEW
    • = LEFT VENTRICULAR OUTFLOW TRACT VIEW
    • Continuity between ventricular septum + anterior aortic wall
    • Caliber of aortic outflow tract
    • Excursion of aortic valve leaflets
  • SHORT-AXIS VIEW OF OUTFLOW TRACTS
    • Spatial relationship between aorta + pulmonary artery
    • Caliber of aortic + pulmonary outflow tracts
  • AORTIC ARCH VIEW
  • Identification of fetal RV:
    • RV lies closest to anterior chest wall
    • foramen ovale flap seen within LA
    • prominent moderator band + papillary muscles in RV
Echogenic Intracardiac Focus
Cause: mineralization of a papillary muscle
  • Isolated anomaly in 90%!
    Fetal Short-Axis View
    Fetal Four-Chamber View
    P.1006

    • Trisomy 21 (in 30% of affected fetuses)
    • Trisomy 13 (in 50% of affected fetuses)
    • Normal pregnancy (4% in a population at high risk for fetal anomalies)
Fetal gastrointestinal anomalies
  • Esophageal atresia ± TE fistula
  • Duodenal atresia
  • Meconium peritonitis
  • Hirschsprung disease
  • Choledochal cyst
  • Mesenteric cyst
Fetal Abdominal Wall Defect
Prevalence: 1:2,000 pregnancies
  • 1. Gastroschisis
  • 2. Omphalocele spectrum:
    • upper abdominal wall defect
      • 3. Ectopia cordis
      • 4. Pentalogy of Cantrell
    • midabdominal wall defect: classic omphalocele
    • lower abdominal wall defect
      • 5. Bladder exstrophy
      • 6. Cloacal exstrophy
  • 7.Amniotic band syndrome
  • 8. Limb-body wall complex
Fetal Hepatomegaly
  • CONGENITAL INFECTIONS
    • CMV
  • SEVERE HEMOLYTIC DISEASE
  • SYNDROMES
    • Beckwith-Wiedemann syndrome
    • Zellweger syndrome
Intraabdominal Echogenic Mass in Fetus
  • Abdomen
    • Echogenic bowel
    • Enteric duplication cyst (rarely echogenic)
    • Subdiaphragmatic extralobar pulmonary sequestration (4:1 left-sided predominance)
  • Liver
    • Hepatic hemangioma
    • Hepatic mesenchymal hamartoma composed of multiple microcysts
  • Adrenal / renal
    • Neuroblastoma
    • Adrenal hemorrhage
    • Mesoblastic nephroma
Nonvisualization of Fetal Stomach
  • Fetal swallowing begins at 11 weeks MA
Normal: stomach is visualized in almost all normal fetuses by 13–14 weeks (definitely by 19 weeks)
Incidence: 2%
  • Cause:
    • Physiologic gastric emptying / intermittent swallowing
      • Repeat scan after 30 minutes!
    • Oligohydramnios
    • CNS depression / abnormalities impairing swallowing
    • Abnormal position of stomach:
      • stomach on contralateral side (situs inversus)
      • congenital diaphragmatic hernia
    • Esophageal atresia ± TE fistula
      • Nonvisualization of fetal stomach and polyhydramnios in 33% fetuses with esophageal atresia after 24 weeks MA!
    • Cleft lip / palate (impairing normal swallowing)
Rx: repeat ultrasound scan
Double Bubble Sign
  • = fluid-filled stomach + proximal duodenum
  • A persistently fluid-filled duodenum is always abnormal!
  • DUODENAL OBSTRUCTION
    • Duodenal atresia (usually not seen <24 weeks MA)
      Cause: in 30% due to Down syndrome
    • Severe duodenal stenosis
    • Duodenal web
    • Duodenal duplication cyst
  • PERIDUODENAL ANOMALY
    • Ladd bands
    • Annular pancreas
    • Preduodenal portal vein
  • DISTAL OBSTRUCTION
    • Midgut volvulus
    • Malrotation
mnemonic: LADS
  • Ladd bands / malrotation
  • Annular pancreas
  • Duodenal atresia
  • Stenosis (duodenal)
Dilated Bowel in Fetus
  • Meconium ileus
    • All newborns with meconium ileus have cystic fibrosis!
    • 10–15% of newborns with cystic fibrosis present with meconium ileus!
  • “Apple peel” atresia of small bowel
  • Jejunal atresia
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Colonic aganglionosis = Hirschsprung disease
    • (may be associated with Down syndrome)
  • Anorectal atresia (associated with CNS abnormalities, part of VACTERL complex)
Bowel Obstruction in Fetus
Etiology: intestinal atresia / stenosis secondary to vascular accident, volvulus, meconium ileus, intussusception after organogenesis
Incidence: imperforate anus 1:3,000;
  small bowel 1:5,000; colon 1:20,000
  • Pathologic types:
    • one / more transverse diaphragms
    • blind-ending loops connected by fibrous string
    • complete separation of blind-ending loops
    • apple-peel atresia of small bowel (occlusion of SMA branch)
      Associated with: GI anomalies in 45% (malrotation, duplication, microcolon, esophageal atresia)
  • P.1007

  • multiple distended bowel loops >7 mm in diameter
  • increased peristalsis
  • polyhydramnios (if obstruction above level of mid jejunum; exceptions are esophageal atresia + TE fistula) due to fetal inability to cycle amniotic fluid through gut
Cx: Meconium peritonitis (50%)
DDx: (1) Other cystic masses: duodenal atresia, hydronephrosis, ovarian cyst, mesenteric cyst
  (2) Chronic chloride diarrhea
Hyperechoic Fetal Bowel
  • Most common echogenic mass in fetal abdomen
Definition: bowel echogenicity ≥ bone
Incidence: 0.2–1.0% of 2nd trimester fetuses
Cause: (?) “constipation” in utero due to decreased swallowing, hypoperistalsis, bowel obstruction + increased fluid absorption, ingestion of blood
  • Normal small bowel variant (especially <20 weeks MA) with resolution on follow-up sonogram toward end of 2nd trimester (in 50–70%)
  • Normal colon variant in 3rd trimester 2° to echogenic meconium
  • Meconium ileus
    • Increased abdominal echogenicity is seen in 60–70% of fetuses with cystic fibrosis!
  • Chromosomal abnormality (3–25%)
    • Down syndrome (5–14%)
    • Trisomy 13, 18
    • Turner syndrome
  • Severe IUGR (16%)
  • Intraamniotic bleeding
    • with subsequent swallowing of blood by fetus
  • Prognosis:
    • 5-fold increase in risk for adverse fetal outcome (due to chromosomal abnormality, other anomalies, placental abruption, perinatal death [8–16%], IUGR [67–23%])
    • 30–50% of fetuses with echogenic bowel in 2nd trimester will have poor outcome!
Management: parental testing for cystic fibrosis, careful fetal anatomic survey, follow-up for growth assessment
Intraabdominal Calcifications in Fetus
  • Isolated liver calcifications are relatively frequent (1:1,750 pregnancies) and of no clinical significance!
Scattered Calcifications
  • PERITONEAL
    • Meconium peritonitis
    • Plastic peritonitis associated with hydrometrocolpos
  • CONGENITAL INFECTION
    • Toxoplasmosis
    • Cytomegalovirus
Focal Calcification
  • TUMOR
    • Hepatoblastoma
    • Metastatic neuroblastoma
    • Hemangioma / hemangioendothelioma
    • Teratoma
    • Ovarian dermoid
  • OTHERS
    • Fetal gallstones (>28 weeks EGA)
      Cause: hemolytic disease, cholestasis, maternal drug use
      Prognosis: resolution before / after delivery
Cystic Mass in Fetal Abdomen
  • POSTERIOR MID ABDOMEN
    • Cysts of renal origin
    • Hydroureteronephrosis
    • Multicystic dysplastic kidney
    • Paranephric collection
  • RIGHT UPPER QUADRANT
    • Liver cyst
    • Choledochal cyst
  • LEFT UPPER QUADRANT
    • Splenic cyst
  • ANTERIOR MID ABDOMEN
    • Gastrointestinal duplication cyst
    • Mesenteric cyst
    • Meconium pseudocyst
    • Dilated bowel
    • Urachal cyst
  • LOWER ABDOMEN
    • Adnexal cyst: follicular cyst (most), corpus luteum cyst, theca lutein cyst, paraovarian cyst, teratoma, cystadenoma
      Cx of large cysts: polyhydramnios, dystocia, torsion, respiratory distress
      Prognosis: 60% resolve within first 6 months of life
    • Hydrometrocolpos
    • Meningocele
    • Sacrococcygeal teratoma
Fetal Ascites
  • ASCITES + FETAL HYDROPS
    • Immune hydrops
    • Nonimmune hydrops
  • ISOLATED ASCITES
    • Urinary ascites
    • Meconium peritonitis
    • Bowel rupture
    • Ruptured ovarian cyst
    • Hydrometrocolpos
    • Glycogen storage disease
Fetal urinary tract anomalies
Incidence: 0.25%–1% liveborn infants (OB-US);
  1:100–1:200 neonates (pediatrics)
  • Types:
    • Bilateral renal agenesis
    • Infantile polycystic kidney disease
    • Adult polycystic kidney disease
    • Multicystic dysplastic kidney
    • Ureteropelvic junction obstruction
    • Megaureter
    • Posterior urethral valves
    • Prune belly syndrome
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome
    • P.1008

    • Mesoblastic nephroma
    • Wilms tumor
    • Neuroblastoma
      Associated with: chromosome abnormalities in 12% (74% trisomy, 10% deletion, 9% sex chromosome aneuploidy, 6% triploidy)
      • fetal urine production: 5 mL/hr at 20 weeks MA;
        56 mL/hr at 40 weeks MA
      → bladder volume: 1 mL at 20 weeks MA;
        36 mL at 40 weeks MA
  • filling + emptying of fetal urinary bladder occurs every 10–30 (range 7–43) minutes
  • increased renal parenchymal echogenicity indicates renal abnormality in 80%
  • fetal hydronephrosis
    • = AP diameter of renal pelvis >5 mm at 15–20 weeks, ≥8 mm at 20–30 weeks, ≥10 mm at >30 weeks
General gynecology
Pelvic Features of Estrogen Stimulation
  • increased thickness + volume of uterus
  • fundocervical ratio >2
  • echogenic endometrium
  • appearance of ovaries NOT USEFUL (because of widely varying ovarian volumes + normal visualization of follicles at all ages)
Precocious Puberty
  • = complete sexual development with secondary sex characteristics appearing <8 years of age in girls / <9 years of age in boys
  • • premature thelarche / adrenarche / menarche
  • Terminology:
    • isosexual = secondary sex characteristics appropriate for patient’s gender
    • heterosexual = secondary sex characteristics inappropriate for patient’s gender
      • virilization in girls
      • feminization in boys
    • gonadotropin-dependent = true precocious puberty
    • gonadotropin-independent = pseudoprecocious puberty
Isolated Premature Adrenarche
  • = pubic hair development due to action of adrenal androgens
  • increased levels of adrenal androgens
  • prepubertal uterus + ovaries (0.1–1 cm3)
Isolated Premature Thelarche
  • = breast enlargement
  • May occur without endocrine abnormalities
  • prepubertal uterus + ovaries
Pseudoprecocious Puberty
  • = pseudosexual PRECOCITY = PERIPHERAL PRECOCIOUS PUBERTY= incomplete precocious puberty
  • = pubertal changes occurring independently of the action of pituitary gonadotropins, ie, early development of secondary sex characteristics without ovulation
  • Cause:
    • Autonomous ovarian follicular cyst (most common cause)
    • Estrogen-secreting ovarian tumor:
      • eg, granulosa theca-cell tumor, gonadoblastoma, thecoma, choriocarcinoma
    • McCune-Albright syndrome
    • Adrenocortical neoplasm
    • Hypothyroidism
    • Neurofibromatosis
    • Hepatoblastoma
    • Estrogen ingestion
  • • low gonadotropin levels after LHRH stimulation
  • • high estradiol level
  • • low levels of FSH and LH
  • • normal bone age
  • prepubertal uterus + ovaries
  • asymmetric ovarian enlargement (one ovary 2.4–7 cm3) with macrocysts (>9 mm)
  • ± unilateral follicular ovarian cyst characterized by internal daughter cyst
True Precocious Puberty
  • = CENTRAL PRECOCIOUS PUBERTY = TRUE ISOSEXUAL PRECOCITY = complete precocious puberty
  • = gonadotropin-dependent early development of gonads + secondary sex characteristics with ovulation before 8 years of age
  • Cause:
    • Idiopathic activation of hypothalamic-pituitary-gonadal axis (66–80%)
    • Lesion of pituitary gland / hypothalamus:
      • eg, tuber cinereum hamartoma
    • Increased intracranial pressure:
      • eg, postmeningitis hydrocephalus
  • • increased levels of estrogen
  • • increased gonadotropin levels after LHRH stimulation
  • • advanced bone age
  • adult-sized ovaries (1.2–12 cm3)
  • dominance of corpus over cervix length
Rx: long-acting gonadotropin-releasing hormone analogue
Amenorrhea
Primary Amenorrhea
  • Definition:
    • no menarche by 16 years of age
    • no thelarche / adrenarche by 14 years of age
    • no menarche >3 years after adrenarche + thelarche
  • Cause:
    • FEMALE ANATOMIC ANOMALIES
      • = Müllerian (uterovaginal) anomalies (20%)
    • CONGENITAL DISORDERS OF SEXUAL DIFFERENTIATION
      • pure gonadal dysgenesis = Turner syndrome (33%)
        • bilateral dysfunctional / streak gonads
      • mixed gonadal dysgenesis
        • testis + streak gonad
      P.1009

      Risk: in 25% development of dysgerminoma / gonadoblastoma in dysgenetic gonads with Y chromosome
    • OVARIAN FAILURE / DYSFUNCTION
    • HYPOTHALAMIC / PITUITARY CAUSES (15%)
    • CONSTITUTIONAL DELAY (10%)
    • OTHERS: eg, systemic, psychiatric illness (22%)
  • absent / streak gonads + infantile uterus:
    • Hypogonadotrophic hypogonadism
      • low / normal LH + FSH levels
        • hypothalamic dysfunction: hypothalamic tumor, Kallmann disease (= lack of pulsatile GnRH release), systemic illness, constitutional growth delay, extreme physical / psychological / nutritional stress (cystic fibrosis, sickle cell disease, Crohn disease), irradiation
        • pituitary dysfunction: disruption of pituitary stalk from child abuse, head trauma
    • Hypergonadotropic hypogonadism
      • = ovarian tissue fails to respond to endogenous gonadotropins
      • • high LH + FSH levels
      • abnormal karyotype: Turner syndrome, XY gonadal dysgenesis
      • irradiation, chemotherapy, autoimmune disease (eg, autoimmune oophoritis)
  • absent uterus:
    • Testicular feminization = male intersex = male pseudohermaphroditism (end-organ insensitivity to testosterone)
    • Müllerian dysgenesis (= Mayer-Rokitansky-Küster-Hauser syndrome)
      • normal fallopian tubes + ovaries
      associated with: unilateral renal abnormality (50%), skeletal abnormality (12%)
  • small infantile uterus:
    • Androgen-producing virilizing tumors of adolescent ovary (usually Sertoli-Leydig cell tumor)
      • unilateral adnexal mass
    • Turner syndrome
    • In utero exposure to diethylstilbestrol
  • normal uterus + unilateral ovarian tumor:
    • Estrogen-producing ovarian tumor with disruption of menstrual cycle:
      • granulosa cell tumor, thecoma
  • hematometrocolpos:
    • neonate = congenital uterovaginal obstruction
      • Urogenital sinus / cloacal malformation
        • pelviabdominal cystic mass with fluid-debris level in fetal US during 3rd trimester
        • renal dysplasia / obstruction
    • teenager
      • Imperforate hymen
      • Transverse vaginal septum
        • in upper vagina (45%)
        • in mid vagina (40%)
        • in lower vagina (15%)
  • hematometra
    • Cervical dysgenesis
  • bilateral ovarian enlargement:
    • Polycystic ovary syndrome
      • (= Stein-Leventhal syndrome): most common cause of secondary amenorrhea
Secondary Amenorrhea
  • Pregnancy: most common cause in girls >9 years of age
  • Polycystic ovary syndrome (main pathologic cause)
  • Asherman syndrome
  • All causes of primary amenorrhea
Calcifications of Female Genital Tract
  • UTERUS
    • Uterine fibroid
    • Arcuate arteries
  • OVARIES
    • Dermoid cyst (50%)
    • Papillary cystadenoma (psammomatous bodies)
    • Cystadenocarcinoma
    • Hemangiopericytoma
    • Gonadoblastoma
    • Chronic ovarian torsion
    • Pseudomyxoma peritonei
  • FALLOPIAN TUBES
    • Tuberculous salpingitis
  • PLACENTA
  • LITHOPEDION
Psammoma Bodies in Tumors
  • Papillary serous cystadenoma / cystadenocarcinoma
  • Mucinous carcinoma of colon
  • Papillary thyroid cancer
  • Meningioma
Free Fluid in Cul-de-sac
  • Follicular rupture
  • Ovulation
  • Ectopic pregnancy
  • S/P culdocentesis
  • Ovarian neoplasm
  • Pelvic inflammatory disease
Pelvic mass
Frequency of Pelvic Masses
1. Benign adnexal cyst 34%
2. Leiomyoma 14%
3. Cancers 14%
4. Dermoid 13%
5. Endometriosis 10%
6. Pelvic inflammatory disease 8%
Cystic Pelvic Masses
  • CYSTIC ADNEXAL MASS
  • EXTRAADNEXAL CYSTIC MASS
    • Peritoneal inclusion cyst
    • Mesenteric cyst
    • Lymphocele
    • Bladder diverticulum
    • P.1010

    • Ectopic gestation
    • Fluid-distended bowel
    • Loculated pelvic abscess: appendiceal, diverticular, postoperative, Crohn disease, tuberculous, pelvic actinomycosis
Complex Pelvic Mass
mnemonic: CHEETAH
  • Cystadenoma / cystadenocarcinoma
  • Hemorrhagic cyst
  • Endometrioma
  • Ectopic pregnancy
  • Teratoma (dermoid)
  • Abscess (from adjacent appendicitis, etc.)
  • Hematoma in pelvis
Solid Pelvic Masses
  • Pedunculated myoma (most common)
  • Fibroma
  • Adenofibroma
  • Thecoma
  • Brenner tumor
Fatty Pelvic Mass
  • UTERUS
    • Lipoleiomyoma
    • Fibromyolipoma
  • OVARY
    • Benign cystic ovarian teratoma
    • Malignant degeneration of cystic teratoma
    • Nonteratomatous lipomatous ovarian tumor
  • PELVIS
    • Benign pelvic lipoma
    • Liposarcoma
    • Lipoblastic lymphadenopathy
Extrauterine Pelvic Masses
  • Solid adnexal mass
  • Metastatic disease
  • Lymphoma
  • Pelvic kidney
  • Rectosigmoid carcinoma
  • Bladder carcinoma
  • Retroperitoneal tumor / fibrosis
  • Intraperitoneal fat
  • Vascular mass / malformation
  • Hematoma
  • Bowel
Pelvic Pain in Pediatric Age Group
  • Ovarian torsion
    • of normal ovary
      Cause: excessive mobility of ovary in childhood
    • with ovarian mass:
      • functional cyst (60%)
      • neoplasm (40%):
        • benign mature teratoma (66%)
        • malignancy (33%): germ cell tumor (60–75%), epithelial tumor (10–20%), stromal tumor (10%)
  • Hemorrhagic ovarian cyst
  • Pelvic inflammatory disease
  • Ectopic pregnancy
Adnexa
Adnexal Masses
  • CYSTIC
    • Physiologic ovarian cyst:
      — Graafian follicle: at midcycle <25 mm
      — Corpus luteum: after midcycle <15 mm
    • Functional / retention cyst
    • Endometrioma
    • Tuboovarian abscess
    • Dermoid cyst
    • Ectopic pregnancy
    • Paraovarian cyst / cystadenoma
    • Serous / mucinous ovarian tumor
    • Hyperstimulation cysts
    • Peritoneal inclusion cyst
    • Massive ovarian edema
    • Hydrosalpinx
  • SOLID
    • Ovarian tumor
    • Ovarian torsion
    • Oophoritis
    • Polycystic ovaries
    • Fallopian tube carcinoma
    • Pedunculated fibroid
Hemorrhagic Adnexal Lesion
  • Endometriosis
  • Hemorrhagic ovarian cyst
  • Hemorrhagic foci of adenomyosis
  • Hematosalpinx
Low-intensity Adnexal Lesion on T1WI
  • Fibroma
  • Fibrothecoma
  • Cystadenofibroma
  • Brenner tumor
  • Wall of chronic pelvic abscess
  • Pedunculated leiomyoma
High-intensity Adnexal Lesion on T1WI
  • Endometrioma
    • frequently multilocular + bilateral
    • shading (= signal loss) on T2WI
  • Dermoid
    • chemical shift artifact
    • signal drop-out after fat suppression
  • Mucinous cystic neoplasm
    • signal intensity less than fat / blood
  • Hemorrhagic cyst
    • unilocular
    • no shading
    • resolution with time
  • Ovarian carcinoma
    • solid components, septations
    • large size
Adnexal Mass in Pregnancy
Incidence: 0.5–1.2%
P.1011

  • RESOLVING BY 14–16 WEEKS EGA
    • Corpus luteum cyst
    • Theca lutein cyst
  • PERSISTENT ADNEXAL MASS
    • Benign
      • correctly diagnosed by US: 95% of dermoids, 80% of endometriomas, 71% of simple cysts
    • Malignant (0.1–0.8%)
Ovarian Tumors
  • pressure symptoms: abdominal discomfort, vomiting, flatulence, dyspnea
  • acute pain from torsion, hemorrhage
  • chronic pain from slowly enlarging mass, impaction, adhesions
  • menstrual irregularity
  • Radiologic guidelines:
    • Imaging features of ovarian neoplasms virtually never allow a specific diagnosis. Regardless of further differentiation patients always undergo surgery!
    • Signs suggestive of benignancy:
      • unilocularity of cyst
      • thin wall <3 mm
      • minimal septations
      • absence of papillary projection
    • Signs suggestive of malignancy:
      • solid nonfatty nonfibrous tissue (most powerful predictor of malignancy!)
      • many solid-tissue elements in a complex lesion
      • wall thickness >3 mm
      • inner wall irregularities / papillary projections
      • thick septations >3 mm
      • increased echogenicity within a cyst
        Age: 13% of neoplasms malignant in premenopause; 45% of neoplasms malignant in postmenopause
        Cx: (1) Torsion (in 10–20%)
          (2)Rupture (rare)
        (3) Infection
  • Classification:
    • 75% of ovarian neoplasms are benign
    • 21% of ovarian neoplasms are malignant
    • 4% of ovarian neoplasms are borderline malignant
Tumors of Surface Epithelium (60–70%)
  • = 85–95% of all ovarian cancers
  • • propensity for early peritoneal + lymphatic spread
  • peritoneal studding
  • omental cake
  • perihepatic diaphragmatic implants
      Benign Borderline Malignant
    [all types combined 75% 4% 21%]
    Serous 60% 15% 25%
    Mucinous 80% 10% 10%
    Endometrioid ∼0% ∼0% ∼100%
    Clear cell ∼0% ∼0% ∼100%
    Undifferentiated 0% 0% 100%
    • Serous ovarian tumor (50%)
    • Endometrioid tumor (15–30%)
    • Mucinous ovarian tumor (15%)
    • Clear cell adenocarcinoma (5%)
    • Undifferentiated carcinoma (<5%)
    • Brenner tumor (2.5%)
    • Cystadenofibroma
Germ Cell Tumors (15–30%)
  • 40% of germ cell tumors are malignant
  • benign (10%)
    • Dermoid cyst = mature teratoma (most common)
  • malignant
    • account for 75% of ovarian cancers seen in 1st–2nd decade of life; <5% of all ovarian tumors; in order of frequency:
      • Dysgerminoma (1.9%)
      • Immature teratoma (1.3%)
      • Endodermal sinus tumor (1%)
      • Malignant mixed germ cell tumor (0.7%)
      • Embryonal carcinoma (0.1%)
      • Choriocarcinoma (0.1%)
Sex Cord-Stromal Tumors (5–8%)
  • usually have more than one cell type + arise from two groups of cells:
  • — primitive sex cord cells, which form from the coelomic epithelium (= primordial peritoneum) differentiate into granulosa cells + Sertoli cells
  • — stromal cells (fibroblasts, theca cells, Leydig cells) derive from the genital ridge mesonephros mesenchyma
  • • broad range of ages
  • • most present at stage I with good prognosis
  • • absent tumor markers
  • Often manifest with tumor-mediated hormonal effects
  • NO papillary projections
  • lack of fat + calcifications
    • — hyperestrogenic tumors: granulosa cell tumor, thecoma, stromal luteoma
    • — virilizing tumors: Sertoli-Leydig cell tumor, steroid cell tumor (Sertoli cell tumor, Leydig cell tumor)
  • Granulosa-stromal cell tumors
    1. Juvenile granulosa cell tumor multicystic
    2. Adult granulosa cell tumor solid
    3. Thecoma solid
    4. Fibroma solid
    5. Fibrosarcoma  
    6. Sclerosing stromal tumor  
  • Sertoli-stromal cell tumors
    1. Sertoli-Leydig tumor solid
    2. Sertoli cell = arrhenoblastoma solid
    3. Leydig cell
  • Steroid cell tumors = lipid cell tumors
    • Stromal luteoma
    • Leydig cell tumor = hilus cell tumor
    • Steroid cell tumor, not otherwise specified
  • Other
    • Gynandroblastoma
    • Sex cord tumor with annular tubules
      • associated with Peutz-Jeghers syndrome (30% of all tumors with annular tubules)
    • P.1012

    • Sclerosing stromal tumor
  • SECONDARY OVARIAN TUMORS (5%)
    • Metastases from: pelvic organs, upper GI tract, breast, bronchus, reticuloendothelial tumors, leukemia
  • Terminology:
prefix “cyst-” : cystic component present
suffix “-fibroma” : >50% fibrous component
  “tumor of low malignant potential”: borderline malignant
Solid Ovarian Tumor
  • Fibroma
  • Thecoma
  • Granulosa cell tumor
  • Sertoli-Leydig cell tumor
  • Brenner tumor
  • Sarcoma
  • Dysgerminoma
  • Endodermal sinus tumor
  • Teratoma
  • Metastasis
  • Endometrioma
  • Massive ovarian edema
  • Leiomyoma
Proximal Fallopian Tube Obstruction
  • Extensive fibrosis / salpingitis isthmica nodosa (40%)
  • Amorphous debris / minimal adhesions (40%)
  • Tubal spasm (20%)
Uterus
Prepubertal Vaginal Bleeding
  • Vaginal foreign body
    Incidence: in 18% of children with vaginal bleeding + discharge; in 50% of children with vaginal bleeding + no discharge
  • Vaginal rhabdomyosarcoma
  • Precocious puberty
  • Hemangioma
  • Vascular malformation
Postmenopausal Vaginal Bleeding
  • Endometrial atrophy (in 60–75%)
    • • thin atrophic endometrium is prone to superficial ulceration
    • in 75% endometrial thickness <4–5 mm
      • Patient may forego endometrial biopsy!
    • in 25% endometrial thickness of 6–15 mm
  • Endometrial hyperplasia
  • Endometrial polyp
  • Submucosal fibroid
    • hypoechoic mass with an overlying normal echogenic endometrium
    • ± acoustic attenuation
    • ± prolapse into endometrial cavity
      Rx: can be removed at hysteroscopy if >50% of mass projects into endometrial cavity
  • Adenomyoma
    • indistinguishable from submucosal fibroid
  • Endometrial carcinoma (in 7–20%)
  • Estrogen withdrawal
  • Optimal time of imaging:
    • immediately after cessation of bleeding when endometrium is presumed to be thinnest
Rx: any focal / generalized thickness >5 mm at transvaginal US requires further investigation (sonohysterography, guided biopsy, hysteroscopy)
Diffusely Thickened Irregular Endometrium
  • Normal endometrial thickness: see Anatomy
  • Sensitivity for detection of endometrial abnormalities: 80% for transvaginal US; 30% for endometrial biopsy
Time of sonohysterography: day 4, 5, or 6 of menstrual cycle
  • Endometrial hyperplasia
    Age: peri- / postmenopausal women
    Cause: prolonged endogenous / exogenous unopposed estrogen stimulation
    • focal / diffuse endometrial thickening >5–6 mm
    • formation of polyps of up to 5 cm
    • Types:
      • glandular-cystic hyperplasia (most common)
        Histo: dilated glands lined by tall columnar / cuboidal epithelium
        • small cysts within evenly echogenic endometrium
        Prognosis: NO premalignant condition
      • adenomatous hyperplasia
        • endometrium with irregular hypoechoic areas
        Prognosis: precursor of endometrial cancer
  • Secretory endometrium
    • Improve timing of the examination!
  • Endometrial cancer
  • Endometritis
  • Tamoxifen-related endometrial changes
    • = nonsteroidal antiestrogen in breast acts as a weak estrogen agonist causing proliferative effects on the endometrium
      Increased prevalence of: endometrial hyperplasia, polyps, carcinoma
        → 50% of women treated with tamoxifen will develop endometrial abnormalities within 6–36 months
    • Histo:
      • endometrial thickness increased to 10.4 mm; 4.2 mm in control subjects
      • polyps (36%); 10% in control subjects
      • atrophic changes (28%); 87% in control group
    • • hemorrhage (requires further evaluation)
    • endometrial thickening >5–9 mm:
      • endometrial hyperplasia
      • endometrial polyp
      • subendometrial cystic changes (= glandular distension within a polyp / reactivated adenomyosis within inner myometrium)
    • MR:
      • endometrium-myometrium interface (due to endometrial atrophy / proliferative changes):
        • homogeneously hyperintense on T2WI
        • signal void + enhancement on T1WI
      • polyps:
        • heterogeneous intensity on T2WI
        • P.1013

        • laticelike enhancement traversing endometrial canal on T1WI
Focally Thickened Endometrium
  • Endometrial polyp
    • = focal hyperplasia of stratum basale; in 20% multiple
      Age: mainly 30–60 years
      Histo: projections of endometrial glands + stroma into uterine cavity
      • hyperplastic polyp resembling endometrial hyperplasia
      • functional polyp resembling surrounding endometrium (least frequent)
      • atrophic polyp
      Frequently associated with: tamoxifen therapy
    • US:
      • sessile broad-based / pedunculated well-defined smooth hyperechoic homogeneous intracavitary mass (79%) / variable echogenicity (best seen on sonohysterography):
        • cystic spaces (in 59%) due to enlarged dilated glands filled with proteinaceous fluid
        • heterogeneous texture suggests infarction, inflammation, hemorrhage
        • vessel visualized within stalk on color Doppler
          Malignant transformation: in 0.4–3.7%
  • Primary carcinoma of the endometrium
    Risk factors: exposure to unopposed estrogen, obesity, nulliparity, hypertension, diabetes
    Location: predominantly in uterine fundus; 24% in isthmic portion)
    • 10% cancer rate with endometrial thickness of 6–15 mm
    • 50% cancer rate with endometrial thickness of >15 mm
    • irregular heterogeneous endometrium >5 mm in thickness
    • focal / diffuse endometrial thickening (mean thickness of 18.2 mm)
    • irregular poorly defined endometrial-myometrial interface
    • increased echogenicity in myometrium (= invasive endometrial cancer)
    • Doppler waveforms with resistive index <0.7 suggest malignancy
  • Metastatic carcinoma:
    • ovary, cervix, fallopian tube, leukemia
  • Hydatidiform mole
    • echogenic mass with irregular sonolucent areas
  • Incomplete abortion
  • Submucosal leiomyoma
    • mass hypo- / hyperechoic relative to myometrium
    • wide attachment to myometrium
    • intracavitary margin outlined by echogenic rim of endometrium
    • ± acoustic attenuation
      Rx: hysteroscopic removal if >50% of mass projects into endometrial cavity
  • Focal adenomyoma
    • hypoechoic mass with an overlying echogenic endometrium
      DDx: indistinguishable from submucosal fibroid
  • Intrauterine synechiae
    • echogenic bands extending from one endometrial surface to the other
DDx: adherent blood clots
Fluid Collection within Endometrial Canal
Types: blood, mucus, purulent material
  • PREMENOPAUSAL
    • Infection: endometritis, pyometrium
    • Congenital obstructive lesion: imperforate hymen, vaginal septum, vaginal / cervical atresia
    • Acquired obstructive lesion: cervical stenosis (following instrumentation / cone biopsy / radiation), cervical carcinoma
    • Spontaneous hematometra in bleeding disorders
    • Pregnancy: intrauterine, ectopic, incomplete abortion
    • Endometrial cancer
    • Endometrial polyp, submucosal fibroid
    • Functional: during menstruation
  • POSTMENOPAUSAL
    • Endometrial / cervical cancer
    • Cervical stenosis
    • Normal if amount small
Endometrial Cysts
  • Endometrial cystic atrophy
    Histo: cystically dilated atrophic glands lined by single layer of flattened / low cuboidal epithelium
    • very thin endometrium of <4–5 mm
  • Endometrial cystic hyperplasia
Diffuse Uterine Enlargement
  • Diffuse leiomyomatosis
  • Adenomyosis
  • Endometrial carcinoma (15%)
Uterine Masses
  • BENIGN
    • Uterine fibroids (99%)
    • Pyometra
    • Hemato- / hydrocolpos
    • Transient uterine contraction (during pregnancy)
    • Bicornuate uterus
    • Adenomyosis
    • Intrauterine pregnancy
    • Lipoleiomyoma (<50 cases in world literature)
  • MALIGNANT
    • Cervical carcinoma
    • Endometrial carcinoma
    • Leiomyosarcoma
    • Invasive trophoblastic disease
Cervical Mass
  • Fibroid
  • Carcinoma
  • Endometrial polyp
  • Nabothian cyst (= retention cyst related to chronic cervicitis)
P.1014

Fundic Depression on HSG
  • with normal outer contour
    • Septate uterus
    • Arcuate uterus
  • with abnormal outer contour
    • Bicornuate uterus
    • Fundal myoma
Filling Defect on HSG
  • Synechia
  • Endometrial polyp
  • Submucosal myoma
  • Uterine folds = parallel to long axis of uterus
  • Air bubbles
Abnormal Uterine Contour on HSG
  • Submucosal myoma
  • Adenomyosis
  • Trauma (cesarian section, myomectomy)
Cervical Stenosis
  • = obliteration + obstruction of endocervical canal
    • CONGENITAL
      • Transverse vaginal septum in uterus didelphys
      • Congenital absence of cervix
    • ACQUIRED
      • Cervical carcinoma (postmenopausal)
      • Endometrial cancer (premenopausal)
      • S/P radiation treatment
      • S/P endocervical curettage
  • distension of endometrial cavity by secretions + blood products;
Cx: reflux endometriosis
Postpartum Hemorrhage
  • Uterine atony
    • • hemorrhage in immediate postpartum period
    • normal uterus
  • Retained products of conception
    • • hemorrhage several days after delivery
    • echogenic intracavitary mass attached to endometrium
    • high-velocity flow >21 cm/sec of low resistance (supplying residual trophoblastic tissue)
    • calcification of retained products (late finding)
Vagina
Vaginal Cyst
  • Gartner duct cyst
  • Bartholin gland cyst
    • = female homologue of male Cowper glands
      Location: posterolateral portion of lower vagina
  • Paramesonephric / müllerian duct cyst
    • = aberrant remnant of paramesonephric duct
      Location: anterior wall of vagina near cervix
  • Epithelial inclusion cyst
    • = arise from urogenital sinus
      Histo: lined by transitional epithelium containing thick caseous material
Vaginal Fistula
  • Enterovaginal fistula:
    • rectovaginal: incomplete healing of perineal laceration from obstetric trauma, radiation therapy
    • anovaginal: inflammatory bowel disease (10% of patients with Crohn disease)
    • colovaginal: diverticulitis
  • Vesicovaginal fistula:
    • hysterectomy, radiation therapy
  • Ureterovaginal fistula: vaginal hysterectomy
Vaginal & Paravaginal Neoplasm
  • PRIMARY
    • Cavernous hemangioma of vulva
    • Pedunculated submucosal leiomyoma prolapsed into vagina
    • Adenoid cystic carcinoma of Bartholin gland
    • Vaginal carcinoma
      • squamous cell carcinoma (90%)
      • adenocarcinoma (3%)
    • Rhabdomyosarcoma
  • SECONDARY (80% of all vaginal tumors)
    • direct extension from bladder, rectum, cervix, uterus
Gas in genital tract
  • UTERUS
    • Endometritis
    • Superinfection of leiomyoma: more common in submucosal leiomyoma (insufficient blood supply)
    • Bacterial metabolism of necrotic neoplastic tissue
    • Fistula to GI tract: uterine cancer
    • Pyometra secondary to obstruction by cervical cancer
    • Gas gangrene: due to clostridial infection from septic abortion
  • OVARY
    • Superinfected ovarian neoplasm
  • VAGINA
    • Vaginitis emphysematosa
      • = nonbacterial self-limiting process mostly occurring during pregnancy characterized by numerous gas-filled spaces in submucosa of vagina + exocervix
P.1015

Anatomy and Physiology of Female Reproductive System
Human chorionic gonadotropin
= hCG = glycoprotein elaborated by placental trophoblastic cells beginning the 8th day after conception
Immunologic Pregnancy Test
  • = indirect agglutination test for hCG in urine; cross-reaction with other hormones / medications possible
  • Becomes positive at 5 weeks MA
Advantages: readily available, easily + rapidly performed
Disadvantages: frequently false-positive + false-negative results
Sensitivity:
  1. slide: 400–15,000 mIU/mL (2-minute test time)
  2. test tube: 1,000–3,000 mIU/mL (2-hour test time)
Radioimmunoassay (RIA) Pregnancy Test
  • = measures beta subunit of hCG in serum with a sensitivity as low as 1–2 mIU/mL
  • Serum β-hCG becomes positive at 3 weeks MA / 7–10 days following conception!
  • Standards:
    • (1) Second International Standard (SIS)
    • (2) International Reference Preparation (IRP)
    • (3) Third International Standard (TIS)
    • 1 mIU/mL (SIS) = 2 mIU/mL (IRP) = 2 mIU/mL (TIS)
    • 1 ng/mL = 5–6 mIU/mL (SIS)
      = 10–12 mIU/mL (IRP or TIS)
      Variations of lab values of up to 50% can occur among different laboratories!
    • 6–15% between-run precision!
Advantages: specific for hCG, sensitive
Disadvantages: requires specialized lab + 3–24 hours for completion
Sensitivity:
  1. qualitative: 25–30 mIU/mL (3 hours test time)
  2. quantitative: 3–4 mIU/mL (24 hours test time)
Rise:
  • >66% increase of initial β-hCG level over 48 hours in 86% of NORMAL pregnancies
  • <66% increase of initial β-hCG level over 48 hours in 87% of ECTOPIC pregnancies
  • β-hCG levels double every 2–3 days during first 60 days of pregnancy!
Anatomy of gestation
Choriodecidua
Chorion
=trophoblast + fetal mesenchyme with villous stems protruding into decidua; provides nutrition for developing embryo
  • chorion frondosum = part adjacent to decidua basalis, forms primordial placenta
  • chorion laeve = smooth portion of chorion with atrophied villi
  • “chorionic plate” = amnionic membrane covering the chorionic plate of the placenta
β-hCG (IRP) US Landmarks Gestational Age
1,000 mIU/mL gestational sac 32 d (4.5 weeks)
7,200 mIU/mL yolk sac 36 d (5.0 weeks)
10,800 mIU/mL embryo + heart motion 40 d (6.0 weeks)
Decidua
  • decidua basalis = between chorion frondosum + myometrium
  • decidua capsularis = portion protruding into uterine cavity
  • decidua parietalis = decidua vera = portion lining the uterine cavity elsewhere
Gestational Sac (GS)
  • Arises from blastocyst, which implants into secretory endometrium 6–9 days after ovulation (= 20–23 days of MA), surrounded by echogenic trophoblast
  • GS measures 0.1 mm at time of implantation
  • intradecidual sign (earliest sign) = intrauterine fluid collection corresponding to gestational sac completely embedded within decidua (48% sensitive, 66% specific, 45% accurate) at <5 weeks GA
  • double decidual sac sign (DDS) [most useful >5 weeks GA] = 2 concentric hyperechoic rings surrounding a portion of the gestational sac:
    • outer echogenic ring (= decidua parietalis)
    • interposed hypoechoic line (apposed endometrial walls)
    • inner echogenic ring (= decidua capsularis)
    • DDS present with a mean sac diameter of 10 mm (= 40 days GA)
    • A double decidual sac sign correlates with the presence of pregnancy in 98%!
  • GS surrounded by endometrial thickening >12 mm
  • continuous hyperechoic inner rim >2 mm thick
  • spherical / ovoid shape without angulations
  • mean sac diameter grows 1.13 (range 0.71–1.75) mm/day
    Anatomy of Gestation
P.1016

Gestational Sac Size
  • linear growth: 10 mm by 5th week MA
    60 mm by 12th week MA
  • fills chorionic cavity by 11th–12th weeks MA
Visualization of Gestational Sac
  • Earliest visualization: mean sac diameter of 2–3 mm
  • A. GS VISUALIZATION VERSUS β-hCG LEVEL (2nd International Standard):
    • on transabdominal scan:
      • in 100% with β-hCG levels of >1,800 IU/L
    • on transvaginal scan:
      in 20% with β-hCG levels of <500 IU/L
      in 80% with β-hCG levels of 500–1,000 IU/L
      in 100% with β-hCG levels of >1,000 IU/L
  • B. GS VISUALIZATION VERSUS MENSTRUAL AGE
    5.0 ± 1 weeks = 10 mm
    5.5 ± 1 weeks = 13 mm
    6.0 ± 1 weeks = 17 mm
    6.5 ± 1 week = 20 mm
Secondary Yolk Sac
  • = rounded sonolucent structure (outside amniotic cavity) within chorionic sac (= extracoelomic cavity) connected to umbilicus via a narrow stalk; formed by proliferation of endodermal cells; part of yolk sac is incorporated into fetal gut; the rest persists as a sac connected to the fetus by the vitelline duct
  • Function:
    • transfer of nutrients from trophoblast to embryo prior to functioning placental circulation
    • early formation of blood vessels + blood precursors on sac wall
    • formation of primitive gut
    • source of primordial germ cells
  • Time of formation: at around 28 days MA
  • Mean size:
    1.0 mm by 4.7 weeks MA; 2.0 mm by 5.6 weeks MA; 3.0 mm by 7.1 weeks MA; 4.0 (2.2–5.3) mm by 10 weeks MA; disappears around 12 weeks MA
    First visible structure within gestational sac
  • Definite visualization on transvaginal scan:
    at 5.5 weeks MA
    No Caption Available.
    earliest detection at 5 weeks GA, embryo 2 mm in length
    Vitelline Duct
    8 weeks GA
    Early Coiled Umbilical Cord
    9 weeks GA
    in GS with a mean sac diameter of ≥8 mm
  • Definite visualization on transabdominal scan:
    in GS with a mean diameter of ≥20 mm
    at a gestational age of 7 weeks MA
Embryo
  • Developmental stages:
    Preembryonic period: 2nd–4th week MA
    Trilaminar embryonic disk: during 5th week MA
    Embryonic period: 6th–10th week MA
    Physiologic umbilical herniation: 8th–12th week MA
    Fetal period: beginning at 11th week MA
  • Average growth rate:
    0.7 mm per day / 1.5 mm every 2 days;
    curvilinear growth from 7 mm at 6.3 weeks MA to 50 mm at 12.0 weeks MA
  • Earliest visualization (on endovaginal scan):
    at 5.4 weeks MA at CRL of 1.2 mm
VISUALIZATION OF EMBRYO VERSUS GS
  • on transabdominal scan
    100% visualization if gestational sac ≥27 mm
  • on transvaginal scan
    100% visualization if gestational sac ≥12 mm
    Transvaginal scan not necessary if on transabdominal scan gestational sac >27 mm without evidence of embryo!
  • Failed pregnancy:
    nonvisualization of embryo with mean gestational sac size of ≥18 mm
Cardiac Activity of Embryo
  • Heart begins to contract at a CRL of 1.5–3 mm = 22 days GA = 36 days MA
    • Definite visualization on endovaginal scan:
      • at 46 days GA
      • mean sac diameter of 16 mm
      • CRL ≥ 5 mm CRL = 6.2 weeks
    • Definite visualization on transabdominal scan:
      • at 55 days GA
      • mean sac diameter of 25 mm
    • Rate:
      –at 5-6 weeks GA 101 bpm
      –at 8-9 weeks GA 143 bpm
P.1017

Amnionic Membrane
  • = curvilinear echogenic line within chorionic sac; fills chorionic cavity by 11–12 weeks MA;
  • Fusion:
    • — fuses with chorionic membrane at approximately 16 weeks MA to form the chorionic plate
    • — incomplete fusion with chorion frequent (DDx: subchorionic hemorrhage, twin abortion, coexistent with limb-body wall complex)
Umbilical Cord
  • Embryology:
    • cord forms between 5th and 12th postmenstrual week with contributions from body stalk, omphalo-mesenteric or vitelline duct, yolk sac, allantois
    • junction of the amnion with ventral surface of embryo will form umbilicus
    • midgut undergoes physiologic herniation into the base of the umbilical cord 7–12 postmenstrual weeks
    • cord grows until end of 2nd trimester: average diameter of 17 mm, length of 50–60 cm
  • Anatomy:
    • 1–2 cm in diameter
    • two umbilical arteries = branches of the two internal iliac arteries
    • one umbilical vein (remains after regression of right umbilical vein in early embryonic period)
    • Wharton jelly = compressible matrix of cord
    • covered by amnion
    • spiraling of cord with 0–40 twists established by 9 weeks
Placental Grading
  • according to echo appearance of basal zone, chorionic plate, placental substance
    Premature placental calcifications are associated with cigarette smoking, hypertension, IUGR!
    Not considered useful because placental grading is imprecise for fetal dating or for fetal lung maturity!
  • GRADE 0
    homogeneous placenta + straight line of chorionic plate
    Time: <30 weeks MA
  • GRADE 1
    undulated chorionic plate + scattered bright placental echoes
    Time: seen at any time during pregnancy; in 40% at term in 68% L/S ratio >2.0
  • GRADE 2
    linear bright echoes parallel to basal plate
    confluent stippled echoes within placenta ± indentations of chorionic plate
    Time: rarely seen in gestations <32 weeks MA; seen in 40% at term
    in 87% L/S ratio >2.0
  • GRADE 3
    calcified intercotyledonary septa, often surrounding sonolucent center
    Time: rarely seen in gestations <34 weeks MA; in 15–20% at term
    in 100% L/S ratio >2.0 (= strongly correlated with lung maturity)
Premature Placental Senescence
= grade 3 placenta seen in gestation <34 weeks MA
In 50% suggestive of maternal hypertension / IUGR
Uteroplacental Circulation
By 20 weeks MA trophoblast invades maternal vessels and transforms spiral arteries into distended tortuous vessels = uteroplacental arteries
Histo:
  • in the decidual portion of spiral arteries: proliferating trophoblast from anchoring villi invades lumen of spiral arteries + partially replaces endothelium
  • in the myometrial portion of spiral arteries: disintegration of smooth muscle elements (loss of elastic lamina) leads to easily distensible vascular system of low resistance
Uterine Blood Volume Flow
  • — 50 mL/min shortly after conception
  • — 500–900 mL/min by term
    Intervillous blood flow: 140 ± 53 mL/min (by Xe-133 washout)
Umbilical Artery Doppler
Variables affecting Doppler measurements:
  • site of Doppler (close to placenta preferred), fetal heart rate, fetal breathing, drugs (ritodrine hydrochloride decreases S/D ratio)
  • degree of diastolic flow increases as gestation progresses
  • –S/D ratio between 3.3 and 4.3 at 20 weeks
  • –S/D ratio between 1.7 and 2.4 at term
  • highly turbulent flow
IUGR Lesions
= narrowing of vascular lumen through
  • thrombosis of decidual segments of uteroplacental arteries
  • failure of development of myometrial segments of uteroplacental arteries
Fetal mensuration
US is more reliable than LMP / physical examination!
Ultrasound Milestones
gestational sac w/o embryo or yolk sac = 5.0 weeks
gestational sac + yolk sac w/o embryo = 5.5 weeks
heartbeat ± embryo <5 mm = 6.0 weeks
Accuracy: ± 0.5 week
Fetal Age
  • = GESTATIONAL AGE (GA) = “MENSTRUAL AGE” (MA)
  • = age of pregnancy based on woman’s regular last menstrual period (LMP) projecting the estimated date of confinement (EDC) at 40 weeks
    Note the inaccurate clinical usage of “gestational age,” which strictly speaking refers to the true age of the pregnancy counting from the day of conception, whereas “menstrual age” refers to the true age of the pregnancy + approximately 2 weeks counting from the first day of the last menstruation!
    P.1018

    On subsequent scans GA = GA assigned at 1st ultrasound + number of intervening weeks!
  • ACCURACY OF CLINICAL ASSESSMENT
    menstrual history ±2–3 weeks
    1st-trimester exam ±2 weeks
    fundal height ±4 weeks
Gestational Sac (GS)
  • = average of 3 diameters (craniocaudad, AP, TRV) of anechoic space within sac walls
    Used for dating between 6 and 12 weeks MA (identified as early as 5 weeks MA on transabdominal scan)
  • EGA [in wks] = (GS [in mm] + 25.43) ÷7.02
Accuracy: ± 7 days
Early Embryonic Size
  • = length of embryo <25 mm on transvaginal scan performed at <11 weeks MA
  • Gestational age (days) = embryonic size (mm) + 42
Accuracy: ± 3 days
Crown-Rump Length (CRL)
  • = length of fetus; useful up to 12 weeks MA (usually identified by 7 weeks MA on transabdominal scan)
Rule of thumb: MA (in weeks) = CRL (in cm) + 6
Accuracy: ± 5–7 days
Biparietal Diameter (BPD)
  • = measured from leading edge to leading edge of calvarial table at widest transaxial plane of skull = level of thalami + cavum septi pellucidi + sylvian fissures with middle cerebral arteries
    Excellent means of estimating GA in 2nd trimester >12 weeks MA
  • Accuracy:
    2 mm for “between occasion error”
    Most accurate for dating if combined with HC, AC, FL provided body ratios are normal!
    Less reliable for dating in 3rd trimester because of increasing biologic variability!
    Stage Based on Accuracy [weeks]
    1st trimester
      5–6 weeks US milestones ±0.5
      6–13 weeks CRL ±0.7
    2nd trimester
      14–20 weeks cBPD / HC ±1.2
      BPD / FL ±1.4
      20–26 weeks cBPD / HC ±1.9
      BPD / FL ±2.1–2.5
    3rd trimester
      26–32 weeks cBPD / HC / FL ±3.1
      FL ±3.1
      32–42 weeks cBPD / HC / FL ±3.5
      FL ±3.5
Discordant Estimated Date of Confinement (EDC) by LMP and BPD
  • Methodological error in measurement
    • wrong axial section
    • cranial compression (multiple gestation, breech presentation, oligohydramnios, dolichocephaly)
  • Erroneous LMP
    • other measurements (AC, FL) correlate with BPD
  • Abnormal head growth
    • BPD less than AC:
      microcephaly, fetal macrosomia
    • BPD more than AC:
      intracranial abnormality, asymmetric IUGR
Cephalic Index (CI)
= BPD / OFD; measurements of BPD and occipitofrontal diameter (OFD) are both taken from outer to outer edge of calvarium
Confirms appropriate use of BPD if ratio is between 0.70 and 0.86 (2 SD)
Corrected BPD (cBPD)
= BPD and OFD are used to adjust for variations in head shape
Head Circumference (HC)
Used if ratio of BPD/OFD outside 0.70–0.86
HC = ([BPD + OFD]/2) x
  = ([BPD + OFD] × 1.62) × 3.1417
Accuracy: slightly less than for BPD
HC too large: hydrocephalus, hydranencephalus, intracranial hemorrhage, short limb dystrophies, tumor
HC too small: anencephaly, cerebral infarction, synostosis, microcephaly vera
Abdominal Circumference (AC)
  • = measured at level of vascular junction of umbilical vein with left portal vein (“hockey-stick” appearance) where it is equidistant from the lateral walls in a plane perpendicular to long axis of fetus; measured from outer edge to outer edge of soft tissues
    Allows evaluation of head-to-body disproportion
    Better predictor of fetal weight than BPD
AC too large: GI tract obstructions, obstructive uropathy, ascites, hepatosplenomegaly, congenital nephrosis, abdominal tumor
AC too small: diaphragmatic hernia, omphalocele, gastroschisis, renal agenesis
Femur Length (FL)
  • = measurement of ossified femoral diaphysis
Error: “flare” at distal end included in measurement (= reflection from cartilaginous condyle)
Thoracic Circumference (TC)
  • = measured in axial plane of chest, which includes four-chamber view of heart without inclusion of SQ tissue
    Linear growth between 16 and 40 weeks similar to AC
Useful age-independent parameter: TC:AC >0.80
P.1019

Estimated Fetal Weight (EFW)
  • based on measurements of head size (BPD / HC), abdominal size (AD / AC), and femur length (FL)
  • Accuracy:
    body part used 95% confidence range
    abdomen ±22%
    head + abdomen ±17–20%
    head + abdomen + femur ±15%
Appearance of Epiphyseal Bone Centers
in 95% of all cases
  • — distal femoral epiphysis (DFE): >33 weeks GA
  • — distal femoral epiphysis (DFE) >5 mm: >35 weeks
  • — proximal tibial epiphysis (PTE): >35 weeks GA
  • — proximal humeral epiphysis (PHE): >38 weeks GA
CNS Ventricles
width of 3rd ventricle: <3.5 mm (any gestational age)
Diameter of Cisterna Magna
measured from inner margin of occiput to vermis cerebelli: 2–10 mm
Assessment of fetal well-being
Amniotic Fluid Index
= sum of vertical depths of largest clear amniotic fluid pockets in the 4 uterine quadrants measured in mm
Method: patient supine, uterus viewed as 4 equal quadrants, transducer perpendicular to plane of floor + aligned longitudinally with patient’s spine
Variation: 3.1% intraobserver, 6.7% interobserver
Result:  
   — 95th percentile: 185 mm at 16 weeks GA, rising to 280 mm at 35 weeks, declining to 190 at 42 weeks
   — 5th percentile: 80 mm at 16 weeks GA, rising to 100 mm at 23 weeks, declining to 70 mm at 42 weeks
Biophysical Profile (Platt and Manning) = BPP
= in utero Apgar score = assessment of fetal well-being
Gestational age at entry: 25 weeks MA
Observation period: 30 (occasionally 60) minutes; ordinarily <8 minutes needed; in 2% full 30 minutes required
A. ACUTE BIOPHYSICAL VARIABLES
Subject to rhythmic variation coincident with sleep-wake cycle!
  • Fetal breathing movement (FBM):
    1 episode of chest + abdominal wall movement for a period lasting 30 seconds (time is arbitrary to avoid confusion with general body movements / maternal respiration)
    stimulated by: glucose, catecholamine, caffeine, prostaglandin synthetase inhibitor
    suppressed by: barbiturates, benzodiazepine, labor, hypoxia, asphyxia, prostaglandin E2
  • Fetal body movement:
    3 discrete movements of limbs / trunk
    influenced by: glucose, gestational age, time of day, maternal drugs, intrinsic rhythm, labor
  • Fetal tone
    • upper + lower limbs usually fully flexed with head on chest; least sensitive test parameter
      1 episode of opening + closing of hand / extension + flexion of limb
B. CHRONIC FETAL CONDITION
  • 4. Amniotic fluid volume
    at least one pocket ≥2 cm in vertical diameter in two perpendicular planes
    Avoid inclusion of loops of cord!
BPP Score
for each test: 2 points if normal;
0 points if abnormal
False-negative rate: 0.7:1,000
The probability of fetal death within a week of a BPP score of 8/8 is 1:1,000!
Stress Tests
Nonstress Test (NST)
  • Test needed in less than 5% of cases!
  • reactive fetal heart rate tracing (normal) = at least 4 fetal heart accelerations (>15 bpm over baseline lasting >15 seconds) in a 20-minute period subsequent to fetal movement >34 weeks GA
  • nonreactive (abnormal) fetal heart rate tracing = absence of acceleration in a continuous 40-minute observation period
N.B.: no heart accelerations in immaturity, during sleep cycle, with maternal sedative use
Accuracy: false-negative rate of 3.2:1,000 (if done weekly) or 1.6:1,000 (if done biweekly); 50% false-positive rate for neonatal morbidity + 80% for neonatal mortality
Contraction Stress Test (CST)
  • = external monitoring after injection of oxytocin / maternal breast stimulation
    >3 uterine contractions in 10-minute period
Accuracy: false-negative rate of 0.4/1000; 50% false-positive rate
Score Fluid Interpretation Perinatal Mortality
10   asphyxia rare 0.0%
8 normal asphyxia rare <0.1%
8 abnormal chronic compromise 8.9%
6 normal equivocal variable
6 abnormal asphyxia probable 8.9%
4   asphyxia highly probable 9.1%
2   asphyxia almost certain 12.5%
0   asphyxia certain 60.0%
P.1020

Invasive fetal assessment
Amniocentesis
  • Indications:
    • Inadequate sonographic fetal anatomic survey due to fetal position / maternal body habitus
    • Equivocal sonographic findings (eg, abnormal posterior fossa but spinal defect not seen)
    • Experienced sonographer not available
    • Nonlethal anomaly detected on level I sonogram for which karyotype testing is appropriate
  • Risk: fetal loss rate generally quoted as 1:200 (0.5%)
    • FETAL RISK
      • Spontaneous abortion (0.3–1.5%)
      • Amniotic fluid leak
      • Chorioamnionitis
      • Fetal injury: skin dimple, limb gangrene, porencephalic cyst, hemothorax, spleen laceration, orthopedic abnormality, amniotic band syndrome
    • MATERNAL RISK (rare)
      • Bowel perforation
      • Hemorrhage
      • Isoimmunization
Diagnostic Amniocentesis
  • Genetic studies: karyotype, DNA analysis, biochemical assay
    Timing: early (11–15 weeks), late (15–18 weeks)
  • Neural tube defect: α-fetoprotein, acetylcholinesterase
  • Isoimmunization: -OD 450
  • Fetal lung maturity
  • Intraamniotic infection
  • Confirmation of ruptured membranes
Advantage over CVS:
  • Error rate (<1% versus 2%)
  • Culture failure rate (0.6% versus 2.2%)
  • Fetal loss rate (0.6–0.8% less)
Therapeutic Amniocentesis
  • Polyhydramnios
  • Twin-twin transfusion syndrome
    Technique:
    avoid fetus, placenta, umbilical cord, uterine contraction, fibroid, large uterine vessel
    use continuous ultrasound guidance
    inject 2–5 mL of indigo carmine dye in first sac of twin (colorless fluid assures that second sac has been entered)
Chorionic Villus Sampling (CVS)
  • = aspiration of cells from chorion frondosum for genetic studies (karyotype, DNA analysis, biochemical assay)
    Transabdominal CVS for rapid karyotyping in 2nd + 3rd trimester = placental biopsy
  • Advantage: >2 weeks earlier results compared with amniocentesis
  • Timing: 9–11 weeks
  • Approach:
    • transcervical route = catheter introduced through cervix into chorion frondosum, easier for posterior placenta; contamination by cervical flora possible
      CONTRAINDICATED in cervical infections!
    • transabdominal route = 20–22-gauge needle inserted from anterior abdominal wall; easier for anterior / fundal placenta; sterile technique
  • Chromosome analysis:
    • direct preparation = analysis of cytotrophoblasts (may have different karyotype than fetus) → analysis can be performed immediately
    • villus culture = cells from central mesenchymal core (same karyotype as fetus) → cultured for several days before analysis
  • Errors (2%):
    • Mosaicism = cell line forming cytotrophoblast may develop abnormal karyotype while fetal cell line is normal
    • Maternal contamination = cells from maternal decidua may overgrow mesenchymal core cells
  • Risks:
    • Spontaneous abortion (1%)
    • Perforation of amniotic sac
    • Infection
    • Teratogenesis: limb reduction defect
Cordocentesis
  • = PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS)
    • DIAGNOSTIC CORDOCENTESIS
      • Hematocrit
      • Karyotype
      • Immunodeficiency: chronic granulomatous disease, severe combined immunodeficiency
      • Coagulopathy: von Willebrand syndrome, factor deficiency
      • Platelet disorder: alloimmune / idiopathic thrombocytopenic purpura
      • Hemoglobinopathy: sickle cell anemia, thalassemia
      • Infection: toxoplasmosis, rubella, varicella, cytomegalovirus, parvovirus
      • Hypoxia / acidosis
    • THERAPEUTIC CORDOCENTESIS
      • Intravascular fetal transfusion (fresh rh-negative CMV-negative leukodepleted irradiated packed cells compatible with mother infused at 10–15 mL/min)
      • Direct delivery of medication to fetus
Cx:
  1. Chorioamnionitis
  2. Rupture of membranes
  3. Umbilical cord hematoma
  4. Umbilical cord thrombosis
  5. Bleeding from insertion site
  6. Fetal bradycardia
Multiple gestations
Incidence: 1.2% of all births;
in 5–50% clinically undiagnosed at term
Occurrence:
P.1021

twins in 1:85 pregnancies (= 851)
triplets in 1:7,600 pregnancies (∼ 852)
quadruplets in 1:729,000 pregnancies (∼ 853)
quintuplets in 1:65,610,000 pregnancies (∼ 854)
  • uterus large for dates
  • may have elevated hCG, HPL (human placental lactogen), AFP levels
Perinatal morbidity & mortality compared with singletons:
twins: up to 5-fold increase
triplets: up to 18-fold increase
Twin Pregnancy
Zygote = fertilized egg
Monozygotic Twins (1/3)
  • = identical TWINS
  • = division of a single fertilized ovum during earliest stages of embryogenesis (chorion differentiates 4 days and amnion 8 days after fertilization)
  • Incidence: 1:250 birth (constant around the world)
  • Predisposing factors:
    • Advanced maternal age
    • In vitro fertilization
      same sex + identical genotype
Cx: (1) perinatal mortality 2.5 times greater than for dizygotic twins
  (2) Fetal anomalies 3–7 times higher than in dizygotic twins / singletons (often only affecting one twin): anencephaly, hydrocephalus, holoprosencephaly, cloacal exstrophy, VATER syndrome, sirenomelia, sacrococcygeal teratoma
Twinning
Dichorionic Diamniotic Twins (30%)
  • = separation at two-cell stage (= blastomere) approximately 60 hours / <4 days after fertilization
  • 2 separate fused / unfused placentas
  • membrane >2 mm due to 2 separate chorionic sacs + 2 separate amniotic sacs (92% accurate for dichorionic diamniotic twins)
  • “twin peak” sign = triangular projection of placental tissue insinuated between layers of intertwin membrane
Monochorionic Diamniotic Twins (69–80%)
  • = separation in blastocyst stage between 4th and 7th day after fertilization (chorion already developed and separated from embryo)
  • 2 separate amniotic sacs in single chorionic sac
  • Common monochorionic placenta has vascular communications in 100%!
Cx: (1) Twin-twin transfusion syndrome
  (2) Twin embolization syndrome = DIC in surviving twin from transfer of thromboplastin; 17% morbidity / mortality of survivor after fetal death of twin
  (3) Acardiac parabiotic twin
Monochorionic Monoamniotic Twins (1%)
  • = division of embryonic disk between 8th and 12th day after fertilization (amniotic cavity already developed) common amniotic + chorionic sac, no separating membrane
    P.1022

    Days after Fertilization Embryologic Event Cleavage Chorion results in Amnion
    1–2 cell divisions → morula di∼ di∼
    3–4 chorionic differentiation    
    6 blastocyst implants in endometrium mono∼ di∼
    8 amnionic differentiation mono∼ mono∼
    >13 division of embryonic disk mono∼ mono∼
        but conjoined
  • entanglement of cords (the only definitive positive sonographic sign of monoamnionicity)
Cx: double perinatal mortality up to 45%
  (1) Entangled umbilical cord (70%)
  (2) True knot of cord
  (3) Conjoined twins (umbilical cord with >3 vessels, shared fetal organs, continuous fetal skin contour)
Prognosis: 40% survival rate
Dizygotic Twins (2/3)
  • = FRATERNAL TWINS
  • (a) fertilization of two ova by two separate spermatozoa during two simultaneous ovulations (occurring either in both ovaries or in one ovary)
  • (b) superfetation = fertilization of two ova by two separate spermatozoa during two subsequent ovulations (frequency unknown)
  • (c) superfecundation = two ova fertilized by two different fathers (very rare)
  • Incidence: 1:80 to 1:90 births
  • Predisposing factors:
    • Advanced maternal age (increased up to age 35): reduced gonadal-hypothalamic feedback with increase of FSH levels
    • Ovulation-inducing agents (multiple pregnancies in 6–17% with clomiphene, in 18–53% with Pergonal®)
    • Maternal history of twinning (3 times as frequent compared with normal population)
    • Increased parity
    • Maternal obesity
    • Race with inherited predisposition for multiple ovulations (Blacks > Whites > Asians)
      different phenotypes; same / opposite sex
      always dichorionic diamniotic
Growth Rates of Twins
Twins should be scanned every 3–4 weeks >26–28 weeks GA
  • Below 30–32 weeks GA
    • normal individual twins grow at same rate as singletons
    • BPD growth rates similar to singleton fetuses
  • Beyond 30–32 weeks GA
    • combined weight gain of both twins equals that of a singleton pregnancy (AC of twins < AC of singleton)
    • Weight of twin fetus falls below that of singleton when combined weight of twins >4,000 g!
    • BPD + HC growth may / may not be affected (controversial)
    • FL not affected
Discordant Growth
= weight difference at birth >25%
Cause: (1) Twin-twin transfusion syndrome
  (2) IUGR of one fetus
BPD difference >5 mm (discordant growth in 20–30%)
discordant HC increases probability of IUGR
AC is single most sensitive parameter for IUGR
EFW is most sensitive set of combined parameters for IUGR
>15% S/D ratio difference of umbilical artery Doppler waveforms between twins
Amnionicity & Chorionicity
  • Rules:
    Only monozygotic twins can give rise to monochorionic + monoamniotic pregnancies!
    All monoamniotic twins must also be monochorionic!
    All dizygotic twins must be dichorionic + diamniotic!
    77% of all twin pregnancies are dichorionic (ie, all dizygotics [2/3 of all twins], which equals 67% + 30% of all monozygotics [1/3 of all twins], which equals 10%)
  • GESTATIONAL SACS (<10 weeks MA)
    • Accuracy: 100% in 1st trimester, 80–90% in 2nd trimester
    • 2 gestational sacs, each with a live fetus, indicates dichorionic twinning
    • single gestational sac with 2 live fetuses indicates monochorionic twins
    • single extraembryonic coelom indicates monochorionic twins
  • YOLK SAC
    • number of yolk sacs = number of amnions
  • FETAL GENDER
    • different genders (in 25% of twin pregnancies) must be dizygotic twins and thus dichorionic!
    • [DDx: testicular feminization demonstrates female external genitalia with a 46, XY karyotype]
  • PLACENTAL SITES
    • 2 placentas (in 45% of twin pregnancies) indicate dichorionic diamniotic pregnancy
    • 1 placenta indicates
    • (a) monochorionic pregnancy
    • (b) dichorionic pregnancy with fused placenta (occurs in 50% of dichorionic twin pregnancies)
  • CHORIONIC PEAK
    • “twin peak” sign (= triangular projection of placental tissue extending beyond chorionic surface of the placenta + insinuated between layers of intertwin membrane + wider at chorionic surface and tapering to a point some distance inward from surface) indicates dichorionic pregnancy
  • P.1023

  • MEMBRANE
    • separating membrane confirms diamniotic pregnancy, but does not distinguish between mono- or dichorionic pregnancy
    • dichorionic membrane (two layers of chorion + two layers of amnion) is thicker (>2 mm) than monochorionic membrane (two layers of amnion <1 mm): 88–92% accuracy in 1st trimester, 39–83% accuracy in 2nd + 3rd trimester
      All membranes appear to be thin in 3rd trimester! absence of membrane suggests a monoamniotic monochorionic twin pregnancy
      Nonvisualization of membrane is not sufficient evidence of monoamnionicity due to technical factors!
  • CORD
    • entanglement of cords is the only definitive positive sonographic sign of monoamnionicity
    • simultaneous recording of fetal arterial signals at nonsynchronous rates within wide Doppler gate
  • AMNIOGRAPHY
    • detection of imbibed intestinal contrast in both twins by CT following single sac contrast injection proves monoamniotic monochorionic twin pregnancy
Risks in Multiple Gestations
1. Placental abruption 3-fold
2. Anemia 2.5-fold
3. Hypertension 2.5-fold
4. Congenital anomaly 2–3-fold
5. Preterm delivery 12-fold
6. Perinatal mortality 4–6-fold
Risk increases with number of fetuses, monozygosity, monochorionicity
Risk for IUGR
  • monochorionic-monoamniotic > monochorionic-diamniotic > dichorionic-diamniotic
Risk for Perinatal Mortality
  • 1% for singletons, 9% for diamniotic dichorionic twins,
    • 26% for diamniotic monochorionic twins,
    • 50% for monoamniotic monochorionic twins
  • Prognosis:
    • Perinatal mortality 5–10 times that of singleton pregnancy (91–124:1,000 births)
      • — 9% for dichorionic diamniotic twins
      • — 26% for monochorionic diamniotic twins
      • — 50% for monochorionic monoamniotic twins
      • preterm delivery with birth weight <2,500 g
      • IUGR (25–32%; 2nd most common cause of perinatal mortality + morbidity)
      • amniotic fluid infection (60%)
      • premature rupture of membranes (11%)
      • twin-twin transfusion syndrome (8%)
      • large placental infarct (8%)
      • placenta previa
      • abruptio placentae
      • preeclampsia
      • cord accidents
      • malpresentations
      • velamentous cord insertion (7-fold increase compared with singleton pregnancy)
    • Fetal death in utero (0.5–6.8%; 3 times as often in monochorionic than in dichorionic gestations)
      50% of twin gestations seen at 10 weeks GA will be singletons at birth!
    • Increased risk of congenital anomalies (23:1,000 births = twice as frequent as in singletons; 3–7 times more frequent in monozygotic twins than in dizygotic twins)
Uterus
Uterine Size
Overfilling of urinary bladder can modify uterine shape!
  • PREPUBERTAL UTERUS
    • NEONATAL UTERUS
      • Length of 2.3–4.6 cm (mean 3.4 cm),
      • fundal width of 0.8–2.1 cm (mean 1.2 cm),
      • cervical width of 0.8–2.2 cm (mean 1.4 cm)
      • spade-shaped uterus (58%) with cervix often twice as thick as fundus
      • tube-shaped uterus (32%) with cervical + fundal AP measurements identical
      • –adult pear-shaped uterus (10%) with fundus wider than cervix
      •    thin echogenic endometrium
      •    endometrial fluid (in 23%) secondary to maternal hormonal stimulation
      •    becomes smaller by 4th month of life (2.6–3.0 cm)
      •    Best time to evaluate uterus in child with ambiguous genitalia is first few months of life!
    • INFANTILE UTERUS
      • Age: infancy to 7 years of age
      • Length of 2.5–3.3 cm, fundal width of 0.4–1.0 cm, cervical width of 0.6–1.0 cm
        cervix occupies 2/3 of uterine length
    • PREMENARCHAL / PREPUBERTAL UTERUS
      • Mean length of 4.3 cm
      • usually tubular configuration with fundocervical ratio of 1:1
  • POSTPUBERTAL UTERUS
    • — nulliparous:
      5–8 cm (L); 3 cm (AP); 1.6–3.0 cm (TRV)
    • — multiparous:
      6–11 cm (L); 3–4 cm (AP); 3–5 cm (TRV)
      fundocervical ratio of 2:1 to 3:1
      mean uterine volume of 90 cm3
  • POSTMENOPAUSAL UTERUS
    • cervix occupies 1/3 of uterine length;
    • 5–6.5 cm (L); 2 cm (AP); 1.2–1.8 cm (TRV)
Uterine Zonal Anatomy (on T2WI)
Thickness of zones depends on menstrual cycle + hormonal medication
  • ENDOMETRIUM
    • high signal intensity similar to fat
  • JUNCTIONAL ZONE
    • = basal layer of myometrium
P.1024

Mean thickness: 2–8 mm
Histo: compact smooth muscle fibers with 3-fold increase in number + size of nuclei compared with outer myometrium
low signal intensity (lower water content); seen in 40–60%, may not be visible in premenarchal + postmenopausal women
  • MYOMETRIUM
    • intermediate signal intensity, increases during secretory phase
  • Outer Surface of Uterus
    • thin low-signal intensity line
Cervical Zones (on T2WI)
  • Central stripe of high signal intensity
    Histo: secretions in endocervical canal + cervical mucosa + plicae palmatae
    arbor vitae / plicae palmatae = irregular branched mucosal pattern of cervical canal
  • Middle layer of low signal intensity continuous with junctional zone of corpus uteri
    Histo: inner zone of fibromuscular stroma with percentage of nuclear area 2.5 times greater than in outer zone
  • Outer layer of intermediate signal intensity
    Histo: outer zone of fibromuscular stroma
  • Outermost thin low-intensity serosal layer continuous with uterine serosa
Uterine Enhancement Pattern
  • Myometrium
    demarcates level of internal cervical os
  • Inner mucosal + outer stromal layers of cervix
  • Inner stromal layer of cervix
Endometrium
  • Measurements refer to
    • AP diameter of both apposed endometrial layers (= bilayer thickness) excluding intrauterine fluid
    • the level of the uterine fundus
    • midline long-axis image of uterus
    Measurements increase by 1–2 mm in patients with large body habitus
    If there is a discrepancy between concomitant endometrial + ovarian findings bleeding is usually associated with anovulatory cycles
  • MENSTRUAL PHASE (usually days 1–5)
    Thickness: 1–4 mm
    interrupted thin echogenic line of central interface
  • PROLIFERATIVE PHASE (days 6–14)
    • Thickness: 5–7 mm
      • bright echogenic central line (= apposed borders of endometrial canal)
      • thickened isoechoic to hyperechoic endometrium compared with myometrium (due to development of glands, blood vessels, stroma)
  • PERIOVULATORY PHASE (day 14)
    • Thickness: up to 11 mm
      • “triple ring sign” = multilayered endometrium:
        • echogenic basal layer
        • hypoechoic inner functional layer
        • thin echogenic median layer arising from the central interface
          Normal Premenopausal Endometrium
      • concomitant with mature preovulatory follicle
      • disappears within 48 hours after ovulation
  • SECRETORY PHASE (days 15–28)
    • Thickness: 7–12–16 mm
      • bright central line
      • markedly echogenic thick endometrium (due to stromal edema + distended glands filled with mucus and glycogen):
        • ± posterior acoustic enhancement
        • maximum thickness during midsecretory phase
        • concomitant with a corpus luteum
      • thin hypoechoic halo of inner myometrial zone
Postmenopausal Endometrium
  • NO HORMONAL REPLACEMENT THERAPY
    • bilayer thickness of <5 mm with a homogeneous echogenic endometrium
Histo: consistently associated with atrophic inactive endometrium
  • WITH HORMONAL REPLACEMENT THERAPY
    • cyclic estrogen + progestin therapy
      • endometrial thickness may increase to 8 mm:
        • thickest prior to progestin exposure
        • thinnest after progestin phase (imaging should be done at the beginning / end of a treatment cycle)
    • unopposed estrogen therapy / continuous estrogen + progesterone
      • endometrial thickness may increase to 15 mm
      • Rx: biopsy / D&C recommended if endometrial thickness >8 mm
Normal Postpartum Endometrium
  • endometrial cavity <20 mm in diameter:
    • small echogenic foci of retained membranes / clot / debris (in up to 24% of healthy patients)
    • intrauterine air (in up to 21% of healthy patients)
  • cavity wall:
    • smooth well-defined border
    • irregular heterogeneous lining
    • endometrial stripe thickness decreases with uterine involution
Pelvic Spaces
  • Rectouterine pouch = cul-de-sac
    • Anterior boundary: broad ligaments + uterus
    • Most dependent portion of pelvis in women!
  • Rectovesical recess
    P.1025

    Most dependent portion of pelvis in men!
  • Vesicouterine recess
  • Inguinal fossa
    located between lateral + medial umbilical folds
Pelvic Ligaments
  • 1. Broad ligament
Histo: 2 layers of peritoneum
Origin: uterine peritoneum
Attachment: pelvic sidewall
  • 2. — medial superior free edge:
    formed by fallopian tube
  • 3. — lateral superior free edge:
    suspensory ligament of ovary
  • 4. — lower margin: cardinal ligament
  • 5. Contents (= parametrium):
    • extraperitoneal connective tissue, smooth muscle, fat, fallopian tube, round ligament, ovarian ligament, uterine + ovarian blood vessels, nerves, lymphatics, mesonephric remnants
  • 5. Round ligament
    • = anterior suspensory ligament of uterus
    Histo: band of fibromuscular tissue + lymphatic channels
    Origin: anterolateral uterine fundus, just below + anterior to ovarian ligament
    Attachment: through internal inguinal canal (lateral to deep inferior epigastric vessels) to labia majora
  • Cardinal ligament = transverse cervical ligament = Mackenrodt ligament
    Origin: cervix + upper vagina
    Attachment: fascia of obturator internus muscle
    Relationship:
       — uterine artery runs along its superior aspect
       — forms the base of the broad ligament
  • Uterosacral ligament
    Origin: posterolateral cervix + vagina
    Attachment: anterior body of sacrum at S2 or S3
  • Ovarian ligament = round ligament of the ovary
    Origin: medial aspect of ovary Attachment: uterus, just inferior + posterior to fallopian tube + round ligament
  • Suspensory ligament of ovary = infundibulopelvic lig.
    Origin: anterolateral aspect of ovary
    Attachment: connective tissue over psoas muscle
    Contents: ovarian artery + vein
  • Lateral umbilical fold / ligament
    • = reflection of peritoneum over deep inferior epigastric vessels
  • Medial umbilical fold / ligament
    • = reflection of peritoneum over obliterated umbilical arteries
  • Median umbilical ligament
    • = reflection of peritoneum over obliterated urachus
    • Origin: dome of urinary bladder
    • Attachment: umbilicus
Fallopian Tube
Location: superior aspect of broad ligament
Length: 10–12 cm
Segments:
  • Interstitial / cornual portion
    • = short segment that traverses muscular wall of the uterus
  • Isthmic portion
    • = long narrow segment between interstitial + ampullary end
  • Ampullary portion
    • = widened region near ovary
Ovaries
  • Fixation:
    fairly mobile with attachments to
    anterior pelvic wall by broad ligament
    uterine body by uteroovarian ligament
    fallopian tube by tuboovarian ligament
    lateral pelvic wall by infundibulopelvic ligament
  • Histology:
    • Stromal cells
      • form cortex, medulla, hilus
      • surround all developing follicles
      • cell surface has estrogen-, progesterone-, testosterone-binding sites
      • major source of androgens in postmenopause
    • Cells derived from stroma cells
      • Fibroblasts
      • Luteinizing stromal cells containing lipid
      • Hilus cells
        morphologically similar to Leydig cells in testis; contain intracellular crystalline structures (= crystals of Reinke)
      • Theca cells
        • surround granulosa cells
        • produce estradiol under control of FSH
        • stimulated by LH after ovulation into theca-lutein cells, which develop lipid-laden cytoplasm involved in steroidogenesis
    • Cells derived from sex cords
      • Granulosa cells
        • derived from sec cords
        • surround each primordial oocyte
        • form lining of developing follicle
        • granulosa cell layer contains small cystic cavities lined by basal lamina (= Call-Exner bodies)
        • produce estradiol under control of FSH
        • stimulated by LH after ovulation into granulosa-lutein cells, which develop lipid-laden cytoplasm involved in steroidogenesis
      • Sertoli cells
        • not seen in normal ovary
  • Embryology:
    coelomic (surface) epithelium invaginates into mesenchymal substance (= primary sex cords) and incorporates primordial germ cells, which develop into primordial follicles
Ovarian Size
Ovarian volume = length × height × width × 0.523
P.1026

<3 months: 1.06–3.56 cm3
4–12 months: up to 2.71 cm3
1 year: 1.05 ± 0.7 (S.D.) cm3
2–6 years: ≥ 1.0 ± 0.4 (S.D.) cm3
6–10 years: 1.2–2.3 cm3
11–12 years: 2–4 cm3
after puberty: 2.5–5 cm (L), 0.6–1.5 cm (H),1.5–3 cm (W) = 8 (range 2.5–20) cm3
An ovary >20 cm3 is enlarged!
An ovary between 15 and 20 cm3 requires follow-up!
Ovarian Morphology
neonate:
  • follicles occasionally fail to involute + undergo growth
<8 years:
  • solid ovoid structures with homogeneous / finely heterogeneous texture
  • up to 68–80% of ovaries contain cystic follicles (in 95% <9 mm, in 5% >9 mm)
Visualization of Ovaries
  • after menopause (average onset at age 50):
    <5 years after menopause: in 78%
    >10 years after menopause: in 64%
    — both ovaries: in 85%
    — one ovary: in 60%
  • following hysterectomy: in 43%
Ovarian Cycle
  • FOLLICULAR PHASE = days 1–14
    • a number of immature primordial follicles begin to mature in response to FSH
      multiple small cysts:
      • unstimulated follicles are <2 mm in size
      • stimulated follicles grow >2 mm in size 2–3 follicles in each ovary of day 4 enlarge subsequently to approximately 10 mm
      • 2–3 follicles capture the most FSH and aromatize the most estradiol from their granulosa cells
        single “ascendant / dominant follicle” of 8–12 mm (= graafian follicle) appears by day 10:
        • grows by 2 mm/day
        • subsequently enlarges to 21 (range 17–24) mm by day 14
    • rapidly rising estradiol production triggers the hypothalamic arcuate nucleus to increase GnRH secretion, which prompts the anterior pituitary to disgorge the stored LH over 24 hours
    • LH binds to ovarian receptors + releases cAMP from granulosa cells halting granulosa cell mitosis + increasing peptidase, collagenase, growth factor, angiotensin, prostaglandin as the cause for follicular rupture + conversion to corpus luteum
    progressively increasing diastolic flow on the side of maturing follicle
  • OVULATORY PHASE = day 14
    • “Mittelschmerz” = pain just prior to ovulation (pressure of graafian follicle distending ovarian capsule)
      sudden decrease in follicular size over minutes / hours (= rupture of mature graafian follicle with extrusion of ovum)
  • LUTEAL PHASE = days 15–28
    • All corpora lutea evolve over days and change size and texture constantly
    • All corpora lutea contain hemorrhage:
    • uncontrolled bleeding into center frequently at time of ovulation + on day 8 when regression begins
    • round / ovoid bulging protrusion on one side of ovary = corpus luteum of menstruation:
      • mean diameter of 10–25 mm
      • hyperechoic 1–4-mm thick wall
      • hyperechoic central blood clot gradually transforming to weblike fibrin net
      • blood flow in main arteriole supplying the corpus luteum is approximately 100 cm/sec
      • surrounded by wreath-like color flow
    • involution + atrophy of corpus luteum on about 24th day of cycle = corpus luteum atreticum
Prognosis: large painful corpora lutea will resolve in a week
Graafian Follicle
Size of mature graafian follicle: 17–29 mm
  • growth rate 3 mm/day until the last preovulatory 24 hours followed by a sudden increase in diameter
  • cumulus = 1-mm mural echogenic focus projecting into antrum of follicle + containing oocyte, followed by ovulation within next 36 hours
Signs of Ovulation
  • development of solid echoes within graafian follicle
  • decrease in diameter / sudden collapse of dominant follicle 28–35 hours after LH peak
  • “ring” structure within uterine fundus
  • free fluid appearing in pouch of Douglas
Signs of Ovulatory Failure
  • development of internal echoes prior to 18 mm size
  • continuous cystic enlargement up to 30–40 mm
Ovarian Doppler Signals
  • NONFUNCTIONING OVARY
    • high-impedance waveform
  • FUNCTIONING OVARY
    • — days 1–6:
      high-impedance waveform with RI close to 1.0
    • — days 7–22 = midfollicular to midluteal phase
      • = developing dominant follicle + ovulation + corpus luteal phase:
      • continuous diastolic flow with RI close to 0.5
    • — days 23–28 = late luteal phase:
      high-impedance waveform with RI close to 1.0
Hormonal Status
Thelarche = onset and progress of breast development
    Mean age: 8 years
Adrenarche = onset and progress of pubic (pubarche) + axillary hair development
    Mean age: 9.8 years
Menarche = first episode of vaginal bleeding originating from the uterus
    Mean age: 12.7 years in USA
P.1027

Obstetric and Gynecologic Disorders
Abortion
  • = loss of products of conception <20 weeks of MA (definitions may vary)
  • INDUCED ABORTION
    • medical / therapeutic abortion
    • nonmedical abortion
  • SPONTANEOUS ABORTION
Spontaneous Abortion
  • = FAILED PREGNANCY = PREGNANCY LOSS
  • = MISCARRIAGE
  • Incidence:
    • >50% of all fertilized ova (estimate)
    • 31–43% of all implantations (estimate)
    • 10–25% of clinically diagnosed pregnancies
    • 2–4% with normal cardiac activity
    • decreases with increasing gestational age
      Time of loss: <8–10 weeks MA; the majority occur before 7th week MA
  • Etiology (usually due to abnormal karyotype):
    • autosomal trisomy (52%), triploidy (20%), monosomy (15%)
  • Spontaneous pregnancy loss at <8 weeks gestation occurs in 10–17% of embryos with cardiac activity!
    Signs of Abnormal Pregnancy
    √thin decidual reaction of <2 mm
    √abnormally shaped sac
    √gestational sac low in uterus
Impending / Inevitable Abortion
  • = ABORTION IN PROGRESS
  • = gestational sac with embryo having become detached from implantation site; leading to spontaneous abortion within next few hours
  • Clinical triad:
    • bleeding >7 days
    • persistent painful uterine contractions
    • rupture of membranes
  • moderate effacement of cervix
  • dilated cervix >3 cm
  • sac located low within uterus (DDX: cervical ectopic with closed internal os)
  • progressive migration of sac toward / into cervical canal (on rescanning a short time later)
  • dilated cervix
  • sac surrounded by anechoic zone of blood
Threatened Abortion
  • = 1st trimester bleeding (after period of implantation bleed at 3–4 weeks MA) with a live embryo
    Incidence: 20–25% of all pregnancies
  • Clinical triad:
    • mild bleeding
    • cramping
    • closed cervix
Nonviability diagnosis with certainty (transvaginal scan)
  • @ Cardiac activity:
    • no cardiac activity with a CRL ≥5 mm
    • no cardiac activity with certain GA ≥6.5 weeks
    • no cardiac activity with a GS diameter >16 mm
  • @ Yolk sac:
    • no yolk sac with a GS diameter ≥20 mm
    • embryo visualized without demonstrable yolk sac
    • yolk sac diameter >5.6 mm at <10 weeks MA
  • @ GS contents:
    • fibrinous strands / residual embryonic debris (in 25%)
Nonviability diagnosis with high probability (transvaginal scan)
  • @ Ultrasound milestone not met as expected:
    ó5.0 weeks gestational sac first identifiable
    ó5.5 weeks yolk sac first identifiable
    ó6.0 weeks embryo and FHM first identifiable
  • @ Yolk sac:
    • no yolk sac with GS of 6–9 mm
    • distorted sac configuration
  • @ Choriodecidua
    • thinning of choriodecidual reaction with hypoechoic clefts
  • @ Cardiac activity:
    • no cardiac activity with GS of ≥9 mm
    • slow embryonic heart rate (=bradycardia):
      ≥6.2 Weeks ≥7.0 Weeks Mortality Rate
      >100 bpm >120 bpm 11%
      90–99 bpm 110–119 bpm 32%
      80–89 bpm 100–109 bpm 64%
      <80 bpm <100 bpm 100%
  • Predictors of poor outcome:
    • @ Bradycardia
      • <85 bpm during 5–8 weeks EGA
    • @ Small sac size = “first-trimester oligohydramnios”
      • [misnomer: amnionic cavity is not diminished in size but rather the chorionic cavity]
      • = MSD (mean sac diameter)–CRL ≥ 5 mm (with a live embryo at 5.5–9.0 weeks)
        Prognosis: miscarriage in 94%
    • @ Abnormal yolk sac
      • failure to visualize YS at 5.5 weeks MA = mean
      • diameter of GS ≥8 mm
      • yolk sac size >5 mm
      • calcification / debris within yolk sac
      • double appearance of yolk sac
    • @ Abnormal amnion
      • mean diameter of amniotic cavity > CRL
    • @ Subchorionic hemorrhage
      Frequency: in up to 18% of pregnancies during first half
      N.B.: significance controversial
      Prognosis: 50% develop normally; 15–39% blighted ovum, 4% mole, 4–13% ectopic pregnancy, 0–15% incomplete abortion, 17–57% missed abortion
P.1028

Complete Abortion
  • cervix closed
  • abrupt decline of serum β-hCG
  • IUP documented previously
  • thin regular endometrium with apposed surfaces
  • absence of central / eccentric fluid-filled sac
    DDx: nongravid state, very early IUP, ectopic pregnancy
    Rx: dilatation & curettage may be avoided if IUP was documented previously
Incomplete Abortion
  • = RETAINED PRODUCTS OF CONCEPTION
  • = portion of chorionic villi (placental tissue) / tropho-blastic tissue (fetal tissue) remaining within uterus
  • continued (occasionally massive) genital bleeding (may occur months / years after last abortion / delivery)
  • patulous cervix
  • US (overall accuracy 96%):
    Finding Retained Products
    √gestational sac / collection 100%
    √sac with dead fetus 100%
    √endometrium >5 mm thick 100%
    √endometrium 2–5 mm thick 43%
    √endometrium <2 mm thick 14%
  • usually no embryo / fetus seen
  • irregular / angulated small gestational sac containing amorphous echogenic material
  • ragged disrupted choriodecidual reaction
  • subchorionic fluid ± hemorrhage
    Cx: endometritis, myometritis, peritonitis, septic shock, diffuse intravascular coagulation (with retention >1 month)
    Rx: suction D&C after IV oxytocin
    DDx: mole, blighted ovum, embryonic demise, intrauterine fetal death
Placental Polyp
  • = intrauterine polypoid mass formed by a retained fragment of placental tissue after an abortion / term pregnancy
    Predilection in: placenta accreta
  • MR:
    • hyperintense polypoid mass on T2WI
      DDx: arteriovenous malformation, trophoblastic disease, endometrial polyp, submucosal myoma
Missed Abortion
= dead conceptus within uterine cavity ≥8 weeks occurring prior to 28 weeks MA
Time of diagnosis: not before 13 weeks MA
  • brownish vaginal discharge
  • closed firm cervix
  • no cardiac activity in a well-defined embryo with CRL >9 mm (on abdominal scan) / CRL >5 mm (on transvaginal scan)
  • gestation not in correspondence with menstrual age
  • sac >25 mm in diameter without an embryo (DDx: anembryonic pregnancy)
  • sac >20 mm without yolk sac
  • crenated irregular / distorted angular sac configuration
  • stringlike debris within gestational sac (in 25%)
  • discontinuous / irregular / thin (2 mm) choriodecidual reaction
  • no double decidual sac
  • low sac position
  • subchorionic collection
    Cx: coagulopathy secondary to low plasma fibrinogen (after 4 weeks in 2nd trimester pregnancy)
    Rx: suction D&C (in 1st trimester); prostaglandin E suppositories (in 2nd trimester)
    DDx: blighted ovum
Acardia
  • = ACARDIAC MONSTER = TWIN REVERSED ARTERIAL PERFUSION SEQUENCE (TRAP)
  • = rare developmental anomaly of monochorionic twinning in which one twin develops without a functioning heart
    Incidence: 1:30,000–35,000 births; in 1% of monozygotic twins
  • Pathophysiology:
    • normal twin perfuses acardiac twin through artery-to-artery + vein-to-vein anastomoses in shared placenta; reversed circulation alters hemodynamic forces, which result in abnormal cardiac morphogenesis
  • Spectrum:
    • Holoacardia = no heart at all
    • Pseudoacardia = rudimentary cardiac tissue
  • proximity of the two cord insertions on placental surface
  • linked by an arterioarterial anastomosis
  • reversed arterial flow in cord toward acardiac twin
  • fused placentas
  • polyhydramnios
  • PUMP TWIN
    • at increased risk for fetal demise + preterm labor
    • morphologically normal
    • cardiac overload signs: hydrops, IUGR, hypertrophy of right ventricle, increased cardiothoracic ratio, hepatosplenomegaly, ascites
  • PERFUSED TWIN = ACARDIAC TWIN
    • monochorial placenta (same gender) with vascular anastomosis sustains life of acardiac monster; wide range of associated abnormalities
    • absent / rudimentary heart (“acardius”)
    • tiny / absent cranium (acephalus)
    • small upper torso ± absent / deformed upper extremities
    • marked integumentary edema + cystic hygroma
      Prognosis: mortality of 100% for perfused twin, 50% for pump twin (increased with increased size of acardiac twin)
      Rx: laser ablation of umbilical cord to acardiac twin (up to 20–22 weeks)
Adenomyosis
  • = ENDOMETRIOSIS INTERNA
  • = focal / diffuse benign invasion of myometrium by endometrium (heterotopic “endometrial islands”), which incites reactive myometrial hyperplasia
P.1029

Cause: ? uterine trauma (parturition, myomectomy, curettage), chronic endometritis, hyperestrogenemia
Incidence: 9–20–31% of hysterectomy specimens
Hormonal dependency: adenomyosis involves only basal layer of endometrium; largely nonfunctioning due to resistance to hormonal stimulation unlike endometriosis with some degree of proliferative + secretory changes during menstrual cycle
Path: endometrial glands deeper than 1/4 of thickness of junctional zone
Histo: endometrial glands + stroma within myometrium surrounded by smooth muscle hyperplasia
Age: multiparous women >30 years during menstrual life (later reproductive years)
Associated with: endometriosis (in 36–40%)
  • asymptomatic in 5–70%
  • pelvic pain, menorrhagia, dysmenorrhea (abates after menopause)
  • HSG:
    • small diverticula extending into myometrium
    • irregular masslike filling defect in uterine fundus in focal adenomyosis
  • MR (86–100% sensitive, 66–100% specific, 85–90% accurate):
    • myometrial mass with indistinct margins of primarily low signal intensity on all sequences (due to surrounding reactive dense smooth muscle hypertrophy)
    • diffuse / focal widening of junctional zone (= inner myometrium) ≥12 mm on T2WI, T2-weighted SE images, contrast-enhanced T1WI
    • pseudowidening of endometrium (= indistinct foci of endometrial invasion of myometrium)
    • central high-intensity spots / linear striations on T2WI (due to ectopic endometrial tissue / endometrial cyst / hemorrhagic foci) in 50%
    • cystic adenomyosis = well-circumscribed cystic myometrial lesions of hemorrhage in different stages of organization (in 40% of diffuse adenomyosis, in 100% of focal adenomyosis)
    • enhancement always less than adjacent myometrium
  • US (80–86% sensitive, 50–96% specific, 68–86% accurate):
    • focal / diffuse heterogeneous myometrial echotexture (in 75%)
    • nodular / linear areas of increased myometrial echogenicity (= heterotopic endometrial tissue)
    • area of decreased myometrial echogenicity (= smooth muscle hyperplasia)
    • <5 mm small myometrial cysts (in 50%) due to dilated cystic glands / hemorrhagic foci:
      • “Swiss cheese” appearance of myometrium in cystic adenomyosis
    • poor definition of endomyometrial junctional zone (= endometrial tissue extending into myometrium)
    • pseudowidening of endometrium due to increased myometrial echogenicity
    • thickening + asymmetry of anterior and posterior myometrial walls
    • lack of uterine contour abnormality / mass effect
      Cx: infertility
  • DDx:
    • Leiomyoma (well-defined borders, mass effect, globular shape, large vessels at lesion margin, calcifications, edge shadowing, whorled appearance)
    • Endometrial carcinoma (error in staging if adenomyosis coexists)
    • Myometrial contraction (transient nature, distortion of endometrial lining)
    • Muscular hypertrophy (hypoechoic inner myometrium, diffuse junctional zone thickening)
  • DDx of cystic adenomyosis:
    • Leiomyoma with hemorrhagic degeneration
    • Hematometra
      Rx: hysterectomy (the only definitive cure for debilitating adenomyosis)
Diffuse Adenomyosis (67%)
  • smooth uterine enlargement (DDx: diffuse leiomyomatosis)
  • widening of junctional zone >12 mm on T2WI
Focal Adenomyosis (33%)
  • = “ADENOMYOMA”
  • myometrial mass of 2–7 cm in diameter
  • oval / elongated shape (DDx: leiomyoma is round)
  • ill-defined margins (DDx: sharp margin in leiomyoma)
  • contiguity with junctional zone (DDx: leiomyomas may occur anywhere in myometrium)
Amniotic Band Syndrome
  • = EARLY AMNION RUPTURE SYNDROME
  • = rupture of the amnion exposing the fetus to the injurious environment of fibrous mesodermic bands that emanate from the chorionic side of the amnion
    Prevalence: 1:1,200–1:2,000–1:15,000 live births
  • very thin membrane that flaps with fetal movement or attaches to fetus
  • abnormal sheet / bands of tissue that attach to the fetus (DDx: uterine synechiae, incomplete amniochorionic fusion, amniochorionic separation due to subchorionic hemorrhage, fibrin deposits, venous lakes, residual sac of blighted twin pregnancy, wisps of umbilical cord)
  • restriction of fetal motion secondary to entrapment of fetal parts by bands
  • Associated with fetal deformities in 77%:
    • Limb defects (multiple + asymmetric)
      • amputation / constriction rings of limbs / digits
      • distal syndactyly
      • clubbed feet (30%)
    • Craniofacial defects
      • = asymmetric nonanatomic defects of skull + brain
      • anencephaly
      • asymmetric lateral encephalocele
      • facial clefting of lip / palate
      • asymmetric microphthalmia
      • incomplete / absent cranial calcification
      • ± attachment of head to uterine wall
    • Visceral defects
      • gastroschisis ± exteriorization of liver
      • omphalocele
      • gibbus deformity of spine
  • DDx:
    • Chorioamnionic separation
    • P.1030

    • Intrauterine synechiae
Anembryonic Pregnancy
  • = BLIGHTED OVUM
  • = abnormal intrauterine pregnancy with developmental arrest prior to formation of embryo; may occur as a blighted twin
    Cause: early arrest of embryonic development related to chromosomal abnormality
  • ± vaginal bleeding
  • empty gestational sac (>6.5 weeks MA)
  • yolk sac identified without embryo:
    • vanishing (passed) yolk sac on serial scans
  • gestational sac small / appropriate / large for dates:
    • decrease in gestational sac (GS) size
    • GS fails to grow by >0.6 mm/day on serial scans
  • irregular weakly echogenic decidual reaction of <2 mm
  • distorted sac shape
  • by transabdominal scan:
    • GS usually not visualized before 5–5.5 weeks MA; yolk sac forms at 4 weeks MA when GS is 3 mm; embryo usually visualized by 6 weeks MA
    • GS size ≥10 mm of mean diameter without DDS
    • GS size ≥20 mm of mean diameter without yolk sac
    • GS size ≥25 mm of mean diameter without embryo
  • by transvaginal scan
    • normal intradecidual GS routinely detected at 4–5 weeks with a mean sac diameter of 5 mm
    • GS size ≥8 mm of mean diameter without yolk sac
    • GS size ≥16 mm of mean diameter without cardiac activity
      Cx: first trimester bleeding
Arteriovenous Malformation of Uterus
  • = UTERINE ARTERIOVENOUS FISTULA = UTERINE CIRSOID ANEURYSM
    Associated with: dilatation & curettage, endometrial carcinoma, gestational trophoblastic disease
  • genital bleeding, often requiring blood transfusions
  • MR:
    • tortuous tubular signal voids in myometrium /parametrium / protruding into endometrial cavity on T1WI + T2WI
    • vascular lake with sluggish flow hyperintense on T2WI
    • intensely enhancing lesion isointense to vessels on contrast-enhanced dynamic subtraction MR
Asherman Syndrome
  • = association of multiple intrauterine synechiae (= adhesions consisting of fibrous tissue or smooth muscle) with menstrual dysfunction + infertility
Cause: sequelae of endometrial trauma (vigorous instrumentation during dilatation & curettage) usually during postpartum or postabortion period / severe endometritis
Path: scars / bands of fibrous tissue (synechiae) connect opposing sides of the endometrium by crossing the endometrial cavity; scars cause the endometrial cavity to contract resulting in an irregular surface
  • hypomenorrhea / amenorrhea
  • habitual abortion / sterility
  • HSG:
    • solitary / multiple filling defects
    • bands of tissue traversing endometrial cavity
    • irregular surface contour of uterine cavity
    • small uterine cavity partially / near completely obliterated (DDx: DES exposure)
  • Sonohysterography:
    • echogenic bands bridging the uterine cavity
      • Thick fibrotic bands may prevent complete uterine distension
  • MR:
    • small thin irregular endometrial cavity
Beckwith-Wiedemann Syndrome
  • = EMG SYNDROME (Exomphalos = omphalocele, Macroglossia, Gigantism)
  • = common autosomal dominant overgrowth syndrome with reduced penetrance + variable expressivity related to short arm of chromosome 11; sporadic in 85%
  • Increased risk of benign + malignant tumors of multiple organs: Wilms tumor > adrenocortical neoplasm > hepatoblastoma
Incidence: 1:13,700 to 1:14,300 live births; M:F = 1:1
  • neonatal polycythemia
  • advanced bone age
  • Constellation:
    (1) Hemihypertrophy 13–33%
    (2) Hyperplastic visceromegaly: kidney, liver, spleen, pancreas, clitoris, penis, ovaries, uterus, bladder 57%
    (3) Abdominal wall defects  
       (a) Omphalocele 76%
       (b) Umbilical hernia 49%
       (c) Diastasis recti 33%
    (4) Macroglossia 98%
    (5) Facial nevus flammeus 63%
    (6) Ear lobe creases and pits 66%
    (7) Prominent eyes with intraorbital creases  
    (8) Infraorbital hypoplasia 81%
    (9) Gastrointestinal malrotation 83%
    (10) Pancreatic islet hyperplasia  
    (11) Cardiac anomalies  
    (12) Natal / postnatal gigantism 77%
  • @ Adrenal gland
    Histo: adrenocortical hyperplasia, hyperplastic adrenal medulla, cystic adrenal cortex, bilateral adrenal cytomegaly (= enlargement of fetal cortical cells)
  • @ Kidney
    Histo: disordered lobar arrangement, medullary dysplasia
    • nephromegaly
    • increased cortical echogenicity (due to glomeruloneogenesis)
    • accentuation of corticomedullary definition
    • medullary sponge kidney
    • pyelocaliceal diverticula
  • OB-US:
    • LGA fetus with growth along 95th percentile
    • polyhydramnios (51%)
    • thickened placenta
    • long umbilical cord
Cx: (1) Development of malignant tumors (in 10%)
  (2) Neonatal hypoglycemia (50–61%)
P.1031

Brenner Tumor
  • = almost always benign ovarian tumor
Incidence: 1.5–2.5%
Histo: transitional epithelial cells within prominent fibrous connective tissue stroma
Associated with: mucinous cystadenoma / other epithelial tumor in 20–30%
Peak age: 40–70 years
  • may have estrogenic activity
  • usually hypoechoic solid homogeneous tumor with well-defined back wall
  • mostly 1–2 cm (up to 30 cm) in diameter
  • ± extensive calcifications
  • bilateral in 5–7%
Cervical Cancer
6th most common cause of death from cancer in women; 3rd most common gynecologic malignancy (after endometrial + ovarian cancer); 12,800 new cases + 4,600 deaths in 2000 in United States
Incidence: 12:100,000 women per year
Peak age: 45–55 years
Histo: squamous cell carcinoma (95%) arising low in endocervical canal, adenocarcinoma (5%) arising from endocervical columnar epithelium, clear cell adeno-carcinoma (unusual) in women exposed to DES in utero
Risk factors: lower socioeconomic class, Black race, early marriage, increased parity, early age at first intercourse, numerous sexual partners, cigarette smoking, human papillomavirus infection (HPV type 16 DNA)
  • Significance of tumor size:
    >4 cm: nodal metastases (80%), local recurrence (40%), distant metastases (28%)
    <4 cm: nodal metastases (16%), local recurrence (5%), distant metastases (0%)
  • Spread:
    • direct extension to lower uterine segment + vagina + paracervical space along uterosacral and broad ligaments
    • lymphatic: paracervical > parametrial > hypogastric + obturator > external iliac > common iliac + presacral > para-aortic nodes
    • hematogenous: lung, liver, bone
    • leukorrhea ± vaginal bleeding (<30%)
    • postcoital bleeding / metrorrhagia
  • Location:
    • centered at level of cervix, originating from
      • squamocolumnar junction (in young woman)
      • endocervical canal (older woman)
    • with protrusion into vagina / invasion of lower myometrium
  • CT:
    • @ Primary tumor
      • growth pattern: exophytic, infiltrating, endocervical
      • bulky enlargement of cervix >3.5 cm (DDx: cervical fibroid)
      • iso- (50%) / hypoattenuating (due to necrosis, ulceration, reduced vascularity) after IV contrast
      • gas within tumor (necrosis / prior biopsy)
      • fluid-filled uterus (blood, serous fluid, pus) secondary to obstruction
      • hypoattenuating lesion of myometrium / with vaginal distension
    • @ Parametrial spread (30–58% accuracy):
      • parametrial soft-tissue mass
      • ureteral encasement
      • thickening of ureterosacral ligaments
      • >4-mm soft-tissue strands of increased attenuation extending from cervix into parametria, cardinal / sacrouterine ligaments
      • obliteration of fat planes
      • ill-defined irregular cervical margins
      • eccentric parametrial enlargement
        DDx: parametrial inflammation due to instrumentation, ulceration, infection, prior pelvic surgery, endometriosis
    • @ Pelvic side wall disease
      • tumor <3 mm from side wall
      • enlarged piriform / obturator internus muscles
      • encasement of iliac vessels
      • destruction of pelvic bones
    • @ Pelvic visceral disease (60% PPV)
      • loss of perivesical / perirectal fat plane
        FIGO Stage Description Nodal Metastases
        0 Carcinoma in situ (before invasion) 0.3%
        I Confined to cervix  
          IA preclinical invasive carcinoma  
           IA1 microinvasion of stroma (<3 mm deep and <7 mm wide) 0.3%
           IA2 tumor >3 mm but ≥7 mm horizontal spread 14%
          IB tumor larger than IA 16%
           IB-1 ≥4 cm  
           IB-2 >4 cm  
        II Extension beyond cervix but not to pelvic wall / lower one-third of vagina  
          IIA vaginal extension excluding lower 1/3 33%
          IIB parametrial invasion excepting pelvic sidewall 37%
        III Extension to pelvic wall / lower third of vagina  
          IIIA invasion of lower 1/3 of vagina  
          IIIB pelvic side wall invasion + hydronephrosis  
        IV Located outside true pelvis 55%
          IVA invasion of bladder / rectal mucosa  
          IVB spread to distant organs (paraaortic / inguinal nodes, intraperitoneal metastasis)  
      • P.1032

      • asymmetric nodular thickening of bladder / rectal wall
      • intraluminal mass
      • air in bladder due to fistula
    • @ Lymphatic spread (65–77–80% accuracy)
      • nodes >1 cm in diameter (>7 mm for internal iliac nodes, 9 mm for common iliac nodes, >10 mm for external iliac nodes) with 44% sensitivity
      • lymph node necrosis (100% PPV)
        DDx: adenopathy from secondary tumor infection
  • MR (76–78–91% accuracy for staging, 82–94% accuracy for parametrial involvement):
    • @ Primary tumor
      • focal bulge / mass in cervix:
        • mass isointense on T1WI
        • hyperintense on T2WI compared with fibrous stroma (DDx: postbiopsy changes, inflammation, nabothian cysts)
        • size of tumor accurately depicted (on T2WI rarely overestimated due to inflammation / edema)
          • Tumor diameter and probability of recurrence + metastases are related; tumor diameter >4 cm (stage IB2) means no surgical treatment
        • early contrast enhancement on fat-saturated T1WI
      • blurring + widening of junctional zone secondary to obstruction of cervical os (retained secretions in uterine cavity)
      • disruption of hypointense vaginal wall by hyperintense thickening on T2WI
      • disruption of hypointense cervical fibrous stromal ring on T2WI by nodular / irregular tumor signal intensity
    • @ Parametrial invasion (best seen on T1WI):
      • low-intensity spiculated areas of soft tissue radiating from periphery of cervical mass
      • irregular lateral margins of cervix = linear stranding around cervical mass
      • thickening of uterosacral ligament
    • @ Pelvic sidewall invasion
      • tumor involves obturator internus, piriform, levator ani muscles
      • dilatation of ureter + hydronephrosis
    • @ Pelvic visceral disease
      • disruption of hypointense walls of bladder / rectum (DDx: hyperintense thickening of bladder wall on T2WI due to bullous edema)
    • @ Lymphatic spread
      • lymphadenopathy >10 mm, hyperintense compared with muscle / blood vessels on T2WI
Prognosis: depending on tumor stage + volume of primary mass + histologic grade + lymph node metastases; in 30% recurrent / persistent disease (usually within 2 years)
  • 5-year survival rate:
    tumor diameter ≥1 cm 84%
    tumor diameter >4 cm 67%
    stage IIB 65%
    stage III 40%
    stage IVA <20%
    Rx: (1) Surgery for stages <IIA / tumor <4 cm
      (2) Radiation therapy ± chemotherapy for stages >IIB
    DDx: (1) Endometrial polyp / adenocarcinoma (centered in endometrial cavity protruding into endocervical canal)
      (2) Prolapsed submucosal fibroid (more hypointense on T2WI)
Recurrent Cervical Carcinoma
  • = local tumor growth / development of distant metastasis ≥6 months after complete regression
  • @ Pelvic recurrence
    Prevalence: varies with stage, histologic type, adequacy of therapy, host response; 11% in stage IB
    Site: cervix, uterus, vagina / vaginal cuff, parametria, ovaries, bladder, ureters, rectum, anterior abdominal wall, pelvic side wall
    • lower extremity swelling (lymphatic obstruction)
    • pain (nerve compression, ureteral obstruction)
    • hydrometra (obstruction by preserved cervix)
    • rectovaginal fistula
    • hydronephrosis (70% by autopsy)
    • vesicovaginal fistula
    • pelvic side wall mass
    DDx: radiation fibrosis (82% MR accuracy)
  • @ Nodal recurrence
    • Prognosis worsens as nodal involvement progresses!
      • primary: paracervical, parametrial, internal + external iliac, obturator nodes (= medial group of the external iliac nodes)
        Frequency: in 75% of adenocarcinoma, in 61% of squamous cell carcinoma (autopsy)
      • secondary: sacral, common iliac, inguinal, paraaortic nodes
        Frequency: in 62% of adenocarcinoma, in 30% of squamous cell carcinoma (autopsy)
  • @ Solid abdominal organ recurrence
    Location: liver (33%) > adrenal gland (15%) > spleen, pancreas, kidney
  • @ Peritoneal recurrence
    • Peritoneal carcinomatosis (5–27% by autopsy)
    • Tumor deposits in mesentery + omentum
    • Sister Joseph nodule = umbilical metastasis developing from anterior peritoneal surface
  • @ GI tract recurrence
    Location: rectosigmoid junction (17%), colon, small bowel
    • fistula formation
    • focal bowel wall thickening + tethering
    • intestinal obstruction (12% by autopsy)
    Prognosis: immediate cause of death in 7%
  • @ Chest recurrence
    • Lung metastases (33–38% by autopsy)
    • Pleural metastases associated with hydrothorax
    • Pericardial metastasis
    • Lymphangitic carcinomatosis (<5%)
    • Mediastinal / hilar adenopathy + pleural lesions / effusion
  • @ Osseous recurrence
    P.1033

    Prevalence: 15–29% by autopsy
    Location: vertebra > pelvis > rib > extremity
    Mechanism: direct extension from paraaortic nodes (most common) / lymphatic / hematogenous spread
  • @ Skin + subcutaneous tissue recurrence (in up to 10%)
Chorioamnionic Separation
  • normally seen <16 weeks
    • = incomplete fusion of amniotic membrane with chorionic plate
  • abnormal >17 weeks MA
    • = secondary to hemorrhage / amniocentesis (10%)
    • membrane extends over fetal surface + stops at origin of umbilical cord
    • elevated membrane thinner than chorionic membrane
Cx: rupture of amniotic membrane may lead to amniotic band syndrome
DDx: amniotic band syndrome, uterine synechia, fibrin strand after amniocentesis, cystic hygroma (moves with embryo)
Chorioangioma
= benign vascular malformation of proliferating capillaries (= hamartoma)
Incidence: 1:3,500 to 1:20,000 births
Location: usually near the umbilical cord insertion site
  • well-circumscribed intraplacental mass with complex echo pattern protruding from the fetal surface of the placenta
  • polyhydramnios (in 1/3)
  • arterial signal on Doppler ultrasound in angiomatous chorioangioma
Cx: hemorrhage, fetal hydrops, cardiomegaly, congestive heart failure, IUGR, premature labor, fetal demise (with large lesion)
Choriocarcinoma
Prevalence: 5% of gestational trophoblastic diseases
Age: child-bearing age
Histo: biphasic pattern including syncytiotrophoblastic + cytotrophoblastic proliferation without villous structures; extensive necrosis + hemorrhage; early + extensive vascular invasion
Preceded by: mnemonic: MEAN
  Mole (hydatidiform) in 50.0%
  Ectopic pregnancy in 2.5%
  Abortion, spontaneous in 25.0%
  Normal pregnancy in 22.5%
  • continued vaginal bleeding
  • continued elevation of hCG after expulsion of molar / normal pregnancy (25%)
  • mass enlarging the uterus
  • mixed hyperechoic pattern (hemorrhage, necrosis)
  • Metastases:
    • hematogenous (usually): lung, kidney (10–50%), brain
      • radiodense pulmonary masses with hazy borders due to hemorrhage + necrosis
      • hyperechoic hepatic foci
    • lymphatic + direct extension (occasionally): vagina
Prognosis: 85% cure rate (even with metastases); fatal with spread to kidneys + brain
Rx: (1) Chemotherapy: methotrexate, actinomycin D ± cyclophosphamide
  (2) Hysterectomy (if at risk for uterine rupture)
DDx: mnemonic: THE CLIP
    True mole
    Hydropic degeneration of placenta
    Endometrial proliferation
    Coexistent mole and fetus
    Leiomyoma (degenerated)
    Incomplete abortion
    Products of conception (retained)
Clear Cell Neoplasm of Ovary
  • = mesonephroid TUMOR
  • = almost always invasive carcinoma
Incidence: 2–5–10% of all ovarian cancers
Histo: clear cells (cuboidal cells with clear cytoplasm) + hobnail cells (columnar cells with large nuclei projecting into the lumina of glandular elements); identical to clear cell carcinoma of endometrium, cervix, vagina, kidney; ~100% malignant
Not associated with: in utero DES exposure (like lesions of the vagina + cervix)
  • 75% of patients present with stage I disease
  • frequently unilocular cyst + mural nodule(s)
Prognosis: 50% 5-year survival rate (better than for other ovarian cancers)
Conjoined Twins
  • = incomplete division of embryonic cell mass in monozygotic twins occurring at 13–16 days GA but before the 3rd week of gestation
    Prevalence: 1:50,000 to 1:200,000 deliveries (1:14,000 to 1:25,000 in Southeast Asia + Africa); 1:600 twin births; M:F = 1:3
  • OB-US (diagnosed as early as 12 weeks GA):
    • single placenta without separating amniotic membrane (monochorionic, monoamniotic = hallmark of monozygotic twinning)
    • inseparable fetal bodies + skin contours:
      • fetuses commonly face each other
      • both fetal heads persistently at same level
      • no change in relative position of fetuses
      • bibreech (more common) / bicephalic presentation (cephalic-breech presentation is most common presentation for omphalopagus)
      • backward flexion of cervical spine (in anterior fusion)
      • single cardiac motion (if heart shared)
    • polyhydramnios (in almost 50%)
    • single umbilical cord with >3 vessels
    • fewer limbs than expected
  • Associated malformations:
    • omphalocele
    • congenital heart disease (high frequency in all types of conjoined twinning)
Prognosis: 40–60% stillborn; 35% die within 24 hours of life
Craniopagus
= united at any part of the skull except face / foramen magnum (usually vertical / parietal in >60%)
P.1034

shared cranium, meninges, dural venous sinuses (brains commonly remain separate ± connecting bridge of neural tissue)
Superior Conjunction     Dipygus (<1%) single head, thorax, abdomen + two pelves and four legs   Syncephalus (<1%) facial fusion ± thoracic fusion   Craniopagus (2%) joined between homologous portions of cranial vault Middle Conjunction     Thoracopagus (40%) between thoracic walls; conjoined hearts (75%)   Omphalopagus (33%) joined between umbilicus + xiphoid   Xiphopagus joined at xiphoid   Rachipagus joined at any level of spinal column above sacrum   Thoracoomphalopagus   Inferior Conjunction     Diprosopus (<1%) two faces + one head and body   Dicephalus (<1%) two heads + one body   Ischiopagus (6%) joined by inferior sacrum and coccyx   Pygopagus (19%) joined by posterolateral sacrum and coccyx Incomplete Duplication (10%) duplication of only one part of body
The more fused twins are usually joined laterally, whereas the more separate twins are joined anteriorly, posteriorly, cranially, and caudally!
Ischiopagus
  • = united from umbilicus to large conjoined pelvis, face to face / end to end
  • Types: tetrapus (4 legs), tripus (3 legs), bipus (2 legs)
  • usually two sacra ± single symphysis pubis
  • varying degrees of renal fusion + ectopia
  • one / two urinary bladders
  • single external urethral orifice (usually)
  • shared sex organs (frequently born as females)
  • lower GI tract usually shared with anal atresia + colovesical fistulas
  • large pelvic vessel connecting both aortas
Omphalopagus
  • = joined ventrally in umbilical region, often with inclusion of lower thorax
  • liver fusion (80%)
  • shared terminal ileum (join at Meckel diverticulum) + proximal colon (33%)
Parapagus
  • = side-to-side position with ventrolateral fusion sharing umbilicus, abdomen, pelvis
    Types: dithoracic (= separate thoraces), dicephalic (= separate heads)
  • conjoined pelvis with single symphysis pubis
  • one / two sacra
  • multiple other anomalies
Pygopagus
  • = united dorsally sharing sacrococcygeal + perineal region
  • fusion of sacral vertebrae (spinal cords usually separate)
  • single anus ± single rectum
  • single urinary bladder + urethra (15%)
Thoracopagus
  • = united from upper thorax to umbilicus
  • common sternum, diaphragm, upper abdominal wall
  • common pericardial sac (90%) + some degree of cardiac fusion
  • fusion of liver (invariably):
    • shared biliary system (in 25%)
    • ± absent / anomalous hepatic venous drainage
  • common small intestine (in 50%): joins at duodenum + separates at distal ileum
Prognosis: cardiac fusion precludes successful surgical separation in 75%
Cord Prolapse
  • = prolapse of cord into endocervical canal
  • Incidence: 0.5% at delivery
  • Predisposing factors:
    • nonvertex fetal lie, polyhydramnios, cephalopelvic disproportion, multiple gestation, increased length of umbilical cord
  • Cx: cord compression with high perinatal mortality N.B.: MEDICAL EMERGENCY! Alert obstetrician immediately!
  • OB management:
    • Patient immediately placed into Trendelenburg / knee-elbow position in radiology department
    • Cesarean section for term infants
    • Expectant management for preterm infants
  • DDx: Cord presentation (= umbilical cord between fetus and internal os)
Cystadenofibroma
= variant of serous cystadenoma, rarely malignant
Prevalence: nearly 50% of all benign ovarian cystic serous tumors; bilateral in 6%
Age: 15–65 (mean 31) years
  • may produce estrogen excess
  • small multilocular cystic tumor
  • clusters of short rounded papillary processes
Dermoid
  • = DERMOID CYST = MATURE CYSTIC TERATOMA
  • = congenital benign germ cell tumor containing mature tissues from all 3 germ cell layers with predominance of ectodermal component
P.1035

Incidence: 5–11–25% of all ovarian neoplasms; 20% of ovarian tumors in adults; 66–80% of pediatric ovarian tumors; Most common ovarian neoplasm!
Origin: self-fertilization of a single germ cell after the first meiotic division (= random error in meiosis)
Path: unilocular thin-walled cyst lined by an opaque gray-white wrinkled epidermis from which hair shafts protrude; lumen of cyst filled with sebaceous secretions mixed with hair strands
Histo: mature epithelial elements (skin, hair, teeth, desquamated epithelium); cartilage; bone; muscle; bronchus; fat; salivary gland; neuronal tissue; pancreas; retina; may contain struma ovarii, carcinoid tumor
Age: reproductive life (80%); age peak 20–40 years
  • relatively soft pelvic mass (2/3) difficult to palpate
  • pelvic pressure / pain due to torsion or hemorrhage
  • Location: bilateral in 8–15–25%
  • cystic mass with average diameter of 10 cm
  • fat-fluid / hair-fluid level
  • “dermoid plug” = Rokitansky nodule / protuberance = oval / round mural solid tissue mass (sebaceous material) of 10–65 mm projecting into cyst lumen
  • Plain film (diagnostic in 40%):
    • tooth / bone
    • fat density (SPECIFIC)
  • CT:
    • round mass of fat floating in interface between two water-density components (93%)
    • Rokitansky nodule = dermoid plug (81%) of adipose tissue, usually single, may be multiple
    • sebum-rich fat-fluid level in cyst cavity (12%)
    • globular calcifications (tooth) / rim of calcification (56%)
  • US (77–87% sensitive):
    • complex mass containing echogenic components (66%):
      • “tip of the iceberg” sign = echogenic mass with “dirty” acoustic shadowing (= mixture of sebum + hair strands creates multiple tissue interfaces) in a predominantly cystic mass (25–44%) (DDx: stool-filled rectosigmoid)
      • fat-fluid level
    • predominantly solid mass (10–31%)
    • purely cystic tumor (9–15%)
    • echogenic focus with acoustic shadowing (due to calcification)
  • MR:
    • cyst with fluid-fluid level:
      • hyperintense lipid-laden nondependent cyst fluid (above fluid of low signal intensity) on T1WI + of intermediate intensity on T2WI
      • in-phase GRE image:
        • dependent fluid hypointense compared with muscle
        • nondependent fluid slightly hypointense compared with surrounding fat
      • opposed-phase GRE image:
        • dependent fluid still hypointense compared with muscle
        • slightly hypointense compared with surrounding fat
        • thin black outline at interface between water and fat (phase cancellation of water + lipid in same voxel)
    • hyperintense mass (fat + serous fluid both with high signal intensity) on T2WI
    • ± chemical shift artifact of bright/ dark bands (along frequency-encoding gradient)
      Cx: (1) Malignant degeneration in 1–3% (usually within dermoid plug of tumors >10 cm in diameter in postmenopausal women) into squamous cell carcinoma (most common)
        (2) Torsion (4–16%)
        (3) Rupture with chemical peritonitis (rare)
        (4) Hydronephrosis
      Rx: surgery (to avoid torsion / rupture)
      DDx: tuboovarian abscess, acute hemorrhagic cyst, atypical endometrioma, bowel gas
Rupture of Ovarian Cystic Teratoma
Cause: torsion, infarction, trauma, infection, malignant change, prolonged pressure during labor, idiopathic
  • acute abdomen (due to severe chemical peritonitis)
  • spilled sebaceous material / hair ball on T1WI + fat-suppressed T1WI (DDx to fluid)
  • thickened peritoneum / intraperitoneal adhesions on contrast-enhanced fat-suppressed T1WI
    DDx: tubercular peritonitis, carcinomatosis
Diethylstilbestrol (Des) Exposure
= first reported transplacental carcinogen
@ Vagina: adenosis, septa, ridges, clear-cell adenocarcinoma (in 1:1,000 women exposed in utero to DES, by age 35)
@ Cervix: hypoplasia, stenosis, mucosal displacement, pseudopolyps, hooded / “cockscomb” appearance
@ Uterus: hypoplasia, bands, contour irregularity, “T- shaped” uterus
@ Tubes: deformity, irregularity, obstruction
Dysgerminoma
= malignant germ cell tumor of ovary homologous to testicular seminoma
Incidence: 0.5–2% of all malignant ovarian tumors
Peak age: 2nd–3rd decade
  • no elevation of AFP / hCG (in 5% syncytiotrophoblastic giant cells present, which can elevate hCG levels)
Location: usually unilateral; bilateral in 15–17% multilobulated solid mass divided by fibrovascular septa speckled pattern of calcifications (rare)
  • MR:
    • hypo- / isointense septa on T2WI with contrast-enhancement on T1WI
  • US:
    • hyperechoic solid mass, may have areas of hemorrhage + necrosis
    • prominent arterial color Doppler flow within septa
Rx: highly radiosensitive
Eclampsia
= occurrence of coma ± pre-, intra-, or postpartum convulsions not related to a coincidental neurologic disorder in a preeclamptic patient
P.1036

  • Pathophysiology:
    • VASOSPASM THEORY
      • overregulation of cerebral vasoconstrictive response to acute + severe hypertension progresses to vasospasm; prolonged vasospasm causes local ischemia, increased brain capillary permeability, disruption of blood-brain barrier, arteriolar necrosis, leading to cerebral edema + hemorrhage
    • FORCED-DILATATION THEORY
      • with severe arterial hypertension upper limit of cerebral autoregulation is reached + cerebral vasodilatation starts disrupting the blood-brain barrier and resulting in cerebral edema
    Time of onset: 2nd half of pregnancy in primigravida; <20th week GA with trophoblastic disease
    • severe throbbing frontal headache
    • visual disturbance: scotomata, amaurosis, blurred vision
    • retinal / cortical blindness
    • hyperreflexia, hemi- / quadriparesis, confusion, coma
    • seizures: usually tonic-clonic
    • CT (positive in up to 50%):
      • bilateral rather symmetric white matter hypodensities without contrast enhancement
      • ± cerebral edema with compression of lateral ventricles
      • usually transient + completely reversible cerebral-cortical + basal ganglia hypodensities (= reversible ischemic lesions)
      • cerebral infarction in prolonged ischemia
      • intracerebral hemorrhage (major cause of mortality in 10–60%)
    • MR:
      • transiently increased T2-signal intensity in cerebral cortex + subcortical white matter frequently in watershed areas of posterior hemispheres
Ectopia Cordis
= fusion defect of anterior thoracic wall / sternum / septum transversum prior to 9th week of gestation
  • THORACIC TYPE (60%)
    • = heart outside thoracic cavity protruding through defect in sternum
  • ABDOMINAL TYPE (30%)
    • = heart protruding into abdomen through gap in diaphragm
  • THORACOABDOMINAL TYPE (7%)
    • = in pentalogy of Cantrell
  • CERVICAL TYPE (3%)
    • = displacement of heart into cervical region
  • Associated with:
    • Facial deformities
    • Skeletal deformities
    • Ventral wall defects
    • CNS malformations: meningocele, encephalocele
    • Intracardiac anomalies: tetralogy of Fallot, TGA
    • Amniotic band syndrome
Prognosis: stillbirth / death within first hours / death within first days of life in most case
Ectopic Pregnancy
= implantation outside the endometrial cavity
Incidence: 2% of all pregnancies in United States (1992); 9.9:10,000 women annually; 73,700 cases in 1986 in United States
Risk of recurrence: 10–15%
  • Cause: delayed transit of the fertilized zygote (formed on day 14 MA) secondary to
    • abnormal angulation of oviduct
    • adhesions or scarring from inflammation
    • slowed tubal transit from ciliary abnormalities
  • Risk factors:
    • Previous tubal surgery (tubal ligation / tuboplasty)
    • Previous PID (30–50%): esp. Chlamydia
    • In vitro fertilization / gamete intrafallopian tube transfer
    • Endometriosis
    • Previous ectopic pregnancy (prevalence up to 1.1%, 10-fold increase in risk, 25% chance of recurrence)
    • Current use of IUD
    • Advanced maternal age
    • In utero diethylstilbestrol exposure
    • Documented tubal anomaly
      • If the pregnancy cannot be documented as intrauterine, the patient should be considered at risk!
  • Time of manifestation: usually by 7th week of MA
  • CLASSIC CLINICAL TRIAD (<50%):
    • abnormal vaginal bleeding (75–86%)
    • pelvic pain (97%)
    • palpable adnexal mass (23–41%)
  • secondary amenorrhea (61%)
  • cervical motion tenderness
  • positive urinary pregnancy test (50%)
  • progesterone level <25 mg/mL
  • β-hCG does not rise >66% within 48 hours (lower levels + slower rise and decline compared with IUP)
    • Most ectopic pregnancies do not exhibit a β-hCG of >6,500 mIU/mL (1st IRP) prior to symptomatology!
    • A β-hCG level above the discriminatory zone with absence of IUP suggests ectopic pregnancy!
  • Discriminatory zone of β-hCG (at which a normal IUP should be visualized):
    • by transabdominal scan:
      • ≥6,500 mIU/mL (IRP) with 100% sensitivity + 96% specificity
    • by endovaginal scan:
      • ≥2,000–3,000 mIU/mL (IRP)
    Caveats: technical quality of exam, multiple gestations, distortion by uterine cavity (leiomyoma), lab error, assay variation
    Dx: diagnostic laparoscopy (3–4% false negative, 5% false positive)
    • Location:
      (a) tubal (95%): (1) Ampullary ectopic (75–80%)
        (2) Isthmic ectopic (10–15%)
        (3) Fimbrial ectopic (5%)
        (4) Interstitial ectopic (2–4%)
      (b) other (5%): (1) Abdominal ectopic
        (2) Ovarian ectopic (0.5–1%)
        (3) Interligamentary ectopic
        (4) Cervical ectopic (0.15%)
    • Spectrum:
      P.1037

      Type 1: unruptured live ectopic + heartbeat
      Type 2: early embryonic demise without rupture / embryonic structures / heartbeat
      Type 3: ruptured ectopic with blood in pelvis
      Type 4: no sonographic signs of ectopic
      Intrauterine Signs of an Ectopic Pregnancy
      Transvaginal US (6–20% false-negative rate):
      • Detected 1 week sooner than by transvesical US!
      • @ Uterus
        • absence of intrauterine pregnancy (beyond 6 weeks MA / with β-hCG level >1,000 mIU/mL [2nd IRP])
          • No IUP by transvesical US = ectopic pregnancy in 43–46%
          • No IUP by endovaginal US = ectopic pregnancy in 67%
        • thickening of endometrium:
          • hyperechoic endometrial thickening (50%) due to hormonal stimulation from ectopic pregnancy
          • sloughing of endometrium = decidual cast (21%)
          • decidual endometrium lacks low-impedance blood flow
        • decidual cyst = 1–5-mm cyst at junction of endometrium and myometrium (14%)
        • pseudogestational sac (10–20%) = single parietal decidual layer surrounding an anechoic fluid collection in uterine cavity secondary to bleeding
      • @ Adnexa
        • “tubal ring” = extrauterine hypoechoic saclike structure (40–68%) 1–3 cm in diameter + surrounded by a 2–4-mm concentric ring
        • extrauterine mass of any type (84%):
          • solid / complex adnexal mass = clotted blood free in peritoneal cavity / hematosalpinx (36%)
          • extrauterine gestational sac without live embryo / yolk sac (35%)
          • embryonic heartbeat (6–28%) = PATHOGNOMONIC
        • echogenic “tubal mass” (89–100%)
          normal scan / simple cyst in adnexa 5%
          complex adnexal mass 92%
          tubal ring 95%
          live embryo outside uterus 100%
        • varying flow pattern depending on viability
        • corpus luteum within ovary in >50% on side of ectopic pregnancy (DDx: ectopic pregnancy)
      • @ Cul-de-sac
        • free fluid (40–83%): echogenic / particulate fluid
        • (= hemoperitoneum) has 93% positive predictive value for ectopic pregnancy
        • DDx: anechoic fluid in 10–27% of IUP
      • Doppler-US (low diagnostic impact):
        • high-velocity low-impedance flow around extrauterine gestation in 54% (up to 4 kHz shift with 3 MHz transducer, 0.38 ± 0.2 Pourcelot index, RI = 0.18–0.58)
        • absence of peritrophoblastic flow after 36 days (<0.8 kHz shift with 3 MHz transducer or <1.3 kHz shift with 5 MHz transducer)
      • DDx of low-impedance flow:
        • corpus luteum cyst, tuboovarian abscess, fibroid
      • MR:
        • hematosalpinx slightly hyperintense relative to urine on fat-suppressed T1WI
        • bloody ascites
        • heterogeneous adnexal mass of mixed signal intensity on fat-suppressed T1WI + T2WI
        • extravasation of contrast material (= bleeding site) on contrast-enhanced dynamic subtraction MR
      Prognosis: (1) 3.8:10,000 mortality rate (4% of all maternal deaths)
        (2) Infertility (in 40%)
      Dx: (1) Laparoscopy (almost 100% accurate)
        (2) Culdocentesis (high probability for ectopic with aspiration of nonclotting blood with a hematocrit >15)
      Cx: maternal death in 1:1,000; tubal rupture (10–15%)
      Rx: (1) Surgery
        (2) Methotrexate (>90% success rate)
      • Contraindications to methotrexate therapy:
        • β-hCG level of > 5000 IU/L
        • Documented fetal cardiac activity on US
        • Ectopic mass of ≥ 3.5 cm
        • Hemodynamic instability
        • Unreliable patient who may not comply with serial β-hCG testing
      • Complications of methotrexate therapy:
        • Selflimiting posttreatment pain
        • Treatment failure (severe pain, hemodynamic instability, tubal rupture, hemoperitoneum)
        • Increase in size of gestational mass (in up to 56%) up to 8 cm in diameter
        • Slow resolution of ectopic (up to 108 days)
      • DDx:
        • Hemorrhagic corpus luteum / hematoma
        • Adnexal mass: hydrosalpinx, endometrioma, ovarian cyst
        • Fluid-containing small bowel loop
        • Eccentrically placed GS in bicornuate / retroflexed / fibroid uterus
Abdominal Ectopic
  • Frequency: 1:6,000 ectopic pregnancies
  • >25% may be missed sonographically!
  • bloating, abdominal pain (fetal movement / peritoneal irritation due to adhesions)
  • P.1038

  • bleeding, hypotension, shock
  • extrauterine location of fetus + placenta
  • uterus compressed with visible endometrial cavity line
  • absence of uterine wall between gestation + bladder / abdominal wall
  • anhydramnios
Cx: bowel obstruction / perforation; erosion of pregnancy through abdominal wall
Lithopedion
  • = “stone child” = very rare obstetric complication consisting of a dehydrated + calcified demised fetus in an extrauterine pregnancy existing for >3 months without infection
  • Types:
    • Lithokelyphosis = fetal membranes calcified
    • Lithokelyphopedion = fetus + membranes calcified
    • True lithopedion = only fetus calcified
Maternal age at discovery: 23–100 years of age; within 4–20 years of fetal demise
Location: most common in adnexae
  • large densely calcified mass in lower abdomen / upper pelvis
  • CT scan reveals fetal skeleton
DDx: uterine fibroid, calcified ovarian malignancy / cyst, sarcoma
Heterotopic Pregnancy
  • = ectopic + coexistent intrauterine pregnancy
  • Incidence: 1:6,800–30,000 pregnancies (higher number of coexisting ectopic with ovulation induction)
  • An IUP does not preclude a complete pelvic ultrasound evaluation, although depiction of an IUP virtually excludes the diagnosis of an ectopic pregnancy!
Interstitial (Cornual) Ectopic (2–4%)
  • = ectopic pregnancy with eccentric location in relation to endometrium + close to uterine serosa
  • Often rupture late because of greater myometrial distensibility compared with other parts of tube!
  • High likelihood of catastrophic hemorrhage + death due to abundant blood supply by both ovarian + uterine arteries!
Increased risk: previous ipsilateral salpingectomy
  • Baart de la Faille sign = broad-based palpable mass extending outward from uterine angle
  • Ruge-Simon syndrome = fundus displaced to contralateral side with rotation of uterus + elevation of affected cornu
  • eccentric heterogeneous mass in cornual region (66%)
  • eccentrically placed gestational sac (25%)
  • thinning of myometrial mantle to <5 mm (33%)
  • interstitial line sign = thin echogenic line extending directly up to the center of ectopic pregnancy (= endometrial canal / interstitial portion of fallopian tube) in 92%
  • myometrium between sac and uterine cavity
  • large vascular channels + peritrophoblastic blood flow
  • absence of double decidual sign
    Prognosis: massive bleeding from erosion of uterine arteries + veins (pregnancy survives only 12–16 weeks GA); 2-fold mortality compared with other tubal ectopics
    DDx: pregnancy within horn of bicornuate uterus; hydatidiform mole; degenerating uterine fibroid
Embryonic Demise
Incidence: 20–71% loss rate of one twin <10 weeks
Early Embryonic Demise / Failing Pregnancy
  • β-hCG level <2–3 standard deviations below the mean for given MA / GS size / CRL
  • on endovaginal scan:
    • DEFINITE DEMISE
      • absence of cardiac activity with CRL of ≥5 mm / ≥6.5 weeks GA (repeat scan in 3 days for confirmation)
    • PROBABLY FAILING PREGNANCY
      • mean sac diameter of ≥16 mm without embryo
      • mean sac size of ≥8 mm without yolk sac (repeat scan in 3 days for confirmation)
      • >1,000 mIU/mL (1st IRP) without gestational sac
      • >7,200 mIU/mL (1st IRP) without yolk sac
      • >10,800 mIU/mL (1st IRP) without embryo
    • HIGH RISK OF SUBSEQUENT DEMISE
      • severe bradycardia <80 bpm
      • small mean gestational sac size (difference between mean sac size and CRL <5 mm is predictive of miscarriage in 94%)
    • MODERATELY HIGH RISK OF DEMISE
      • bradycardia of 80–90 bpm
      • large subchorionic hematoma lifting much of placenta
      • yolk sac >6 mm / abnormal shape
  • mean gestational sac size too small for good clinical dates
  • gestational sac growth ≥ 0.7 mm/day (normal growth rate of 1.13 mm/day determines appropriate time interval for follow-up scan, ie, when sac is expected to be 27 mm)
  • sac position in lower uterine segment / cervix
  • stringlike / granular debris / fluid-fluid level within gestational sac (= intrasac bleeding)
Late Embryonic Demise
  • on endovaginal scan:
    • wrinkled collapsing amniotic membrane
    • irregular distorted shape of gestational sac (DDx: compression by bladder, myoma, contraction)
    • absence of double decidual sac = thin (<2 mm) weakly hyperechoic / irregular choriodecidual reaction
Endodermal Sinus Tumor of Ovary
  • = YOLK SAC TUMOR
  • = rare but highly malignant tumor
  • Histo: resembles endodermal sinuses of the rat yolk sac
    • papillary pattern (most common): contains glomerular structures with central vessel + peripheral mantling of epithelial cells (= Schiller-Duval bodies)
    • others: reticular, solid, polyvesicular vitelline
      • periodic acid-Schiff reaction
      • α-fetoprotein–positive hyaline globules
P.1039

Incidence: <1% of all ovarian carcinomas
Age: usually adolescence
May be associated with: teratoma, dermoid cyst, choriocarcinoma
  • frequently abdominal enlargement + pain
  • elevated serum AFP (common)
  • predominantly echogenic solid tumor
  • cystic areas (epithelial-lined cysts / cysts of coexisting mature teratoma / hemorrhage / necrosis)
  • bilateral in 1%
Rx: surgery + combination chemotherapy
Prognosis: poor
Endometrial Cancer
Most common invasive gynecologic malignancy; 4th most prevalent female cancer in USA women
Incidence: 34,000 new cases per year with 3,000 deaths
Histo: adenocarcinoma (90–95%), sarcoma (1–3%)
Peak age: 55–62 years; 74% > age 50
Risk factors: nulliparity, late menopause, exposure to unopposed estrogen therapy, polycystic ovaries, obesity, hypertension, diabetes mellitus
  • Histo:
    • endometrioid carcinoma (75% of all cancers)
    • serous, mucinous, clear cell carcinoma (less common): similar to ovarian counterpart
    • squamous (rare): associated with cervical stenosis, pyometra, chronic inflammation
    • mixed mesodermal tumor: contains elements of epithelial + mesenchymal differentiation
Lymph node metastases: 3% with superficial invasion; 40% with deep invasion
  • postmenopausal bleeding without hormonal therapy
Location: predominantly in uterine fundus; 24% in isthmic portion)
  • US:
    • normal-sized / enlarged uterus
    • focal / diffuse endometrial thickening (mean AP bilayer thickness of 18.2 mm)
      FIGO stage Description
      0 In situ
      I a Tumor limited to endometrium
      I b Superficial invasion to <50% of myometrium
      I c Deep invasion to more than half of myometrium
      II a Endocervical glandular involvement only
      II b Cervical stromal invasion
      III a Invasion of serosa / adnexa / peritoneal metastases
      III b Vaginal metastases
      III c Metastases to pelvic / paraaortic lymph nodes
      IV a Invasion of bladder / bowel mucosa
      IV b Distant metastases (lung, brain, bone) including intraabdominal / inguinal lymph nodes
      ⋄ Clinical staging with dilatation & curettage inaccurate in up to 51%!
      • any endometrial thickness >5 mm is suspicious (100% negative predictive value, not very specific):
        • 10% cancer rate with endometrial thickness of 6–15 mm
        • 50% cancer rate with endometrial thickness of >15 mm
    • irregular heterogeneous echogenic texture with hypoechoic areas:
      • irregular poorly defined endometrial-myometrial interface (= invasive endometrial cancer)
      • increased echogenicity in myometrium (= invasive endometrial cancer)
    • intrauterine fluid collection (DDx: cervical stenosis)
  • Transvaginal US:
    • apparent distension of endometrial lumen with extrinsic thinning of the myometrium (polypoid tumor)
    • Doppler pulsatility index of <1.5 or resistive index <0.7 suggest malignancy (DDx: endometritis, benign endometrial polyp)
    • areas of venous flow (DDx: endometrial hyperplasia)
  • MR (82–92% accuracy for staging, 74–87% accuracy for depth of invasion):
    • endometrial cancer has slightly lower signal intensity than endometrium but higher than myometrium on T2WI
    • endometrial thickness abnormal if >3 mm (postmenopausal woman) / >10 mm (under estrogen replacement)
      DDx: blood clot, uterine secretions, adenomatous hyperplasia, submucosal leiomyoma
    • disruption / absence of junctional zone (myometrial invasion)
    • hyperintense areas penetrating into myometrium (deep muscle invasion; 74–87% accuracy)
Endometrioid Carcinoma of Ovary
Incidence: 8–15% of all ovarian cancers; 2nd most common malignant ovarian neoplasm (after serous adenocarcinoma)
Associated with: hyperplasia / carcinoma of the uterine endometrium in 20–33%
Path: malignant mixed mesodermal tumor = carcinoma-sarcoma is grouped with endometrioid cancer
Histo: tubular glandular pattern with a pseudostratified epithelium resembling endometrial adenocarcinoma / metastatic colon carcinoma; ~100% malignant
  • solid / complex (= cystic + solid) tumor
  • bilateral in 15% of stage I cases
Prognosis: better than serous / mucinous carcinomas
Endometriosis
  • = ENDOMETRIOSIS EXTERNA
  • = encysted functional endometrial epithelium + stroma in an ectopic site outside the uterine cavity / myometrium (internal endometriosis within uterus = adenomyosis)
    Prevalence: 5–10% of menstruating women; in 5% of postmenopausal women on estrogen replacement therapy
  • Etiology:
    • Metastatic theory:
      • peritoneal implantation of endometrial cells via retrograde menstruation through fallopian tubes
        • Up to 90% of women have bloody peritoneal fluid during perimenstrual period
        • P.1040

        • Obstructive müllerian duct anomalies are the most common cause in girls <17 years of age
      • vascular + lymphatic spread
      • intraoperative implantation (uterine surgery, amniocentesis, needle biopsy)
    • Metaplastic theory: transformation of peritoneal epithelium into functioning endometrial tissue
    • Induction theory: combination of first two
      Mean age: 25–29 years
  • Path:
    • punctate small foci / stellate patches of <2 cm initiating inflammatory response (as organizing hemorrhage, fibrosis, adhesions)
    • endometrioma (in up to 10%) = endometriotic cyst in ovary containing thick dark degenerated blood products = “chocolate cyst” (due to repeated cyclic hemorrhage), in up to 50% bilateral
      Histo: endometrial glands, stroma, rare smooth muscle fibers; secretory changes during 2nd half of menstrual cycle; stromal decidualization during pregnancy
  • infertility:
    • 20% of infertile women have endometriosis
    • 30–50% of women with endometriosis are infertile
      Cause: involvement of tubes + ovaries (peritubal adhesions causing anatomic distortion, impaired tubal mobility to capture ovum, tubal destruction / occlusion)
  • pelvic pain:
    • 24–33% of women with pelvic pain have endometriosis
    • dysmenorrhea, dyspareunia, back pain, rectal discomfort
    • chronic pelvic pain (peritoneal adhesions, bleeding)
  • localized tenderness along uterosacral ligaments + cul-de-sac + adnexa
  • thickened nodular ligaments + rectovaginal masses
  • fixed pelvic organs during bimanual exam
Location: ovaries (80%) > uterosacral ligaments > pouch of Douglas > uterine serosal surface > fallopian tube > rectosigmoid
  • Morphologic types:
    • Diffuse form (70%)
      • often no detectable abnormality (when lesions small + scattered)
      • frequently multiple cysts bilaterally
      • thickened wall + loss of definition of borders of pelvic organs
      • any combination of signal intensities
    • Discrete pelvic mass
      Histo: obliterated mostly endometrial gland lining; initially thin wall that becomes fibrotic + thickened with irregular external border
      • Multiplicity favors the diagnosis of endometrioma
      • US:
        • unilocular endometrioma = cyst of up to 20 cm in diameter (usually 2–5 cm):
          • acoustic enhancement
          • diffuse homogeneous low-level internal echoes (= hemorrhagic debris) in 95% CLASSIC
          • anechoic cyst (rare)
          • may show fluid-fluid / fluid-debris level (due to layering of debris)
          • echogenic wall foci (= cholesterol deposits) in 35% CLASSIC
          • wall nodularity in 20%
          • may contain echogenic material (= blood clot) appearing as a solid tumor floating dependently within cyst cavity
        • multilocular endometrioma = multiple separate cysts:
          • thin / thick septations between loculi
        • hematosalpinx (in 28%)
        • DDx:
          • Hemorrhagic ovarian cyst (acute symptoms, more complex cyst with clot retraction, thin fibrin stranding, resolution in 4–6 weeks)
          • Dermoid cyst (calcification, fat-fluid level, hyperechoic areas)
          • Cystic neoplasm
          • Tuboovarian abscess
        • CT:
          • varied findings including solid appearance
        • MR (91–96% accurate, 90–92% sensitive, 91–98% specific with fat suppression):
          • MR is MORE SPECIFIC than US or CT!
          • typically homogeneously hyperintense cyst(s) on T1WI similar to fat (intra- and extracellular methemoglobin shortens T1 of fluids)
          • hyperintense on fat-suppressed T2WI (effectively excluding a dermoid cyst)
            DDx: hemorrhagic adnexal cyst (solitary, thin-walled, brighter than endometrioma)
          • “shading sign” = faint / complete loss of signal of entire cyst / in dependent fluid-debris layer on T2WI (high concentration of cross-linked proteins + iron from recurrent hemorrhage results in a decrease in T2-relaxation time)
          • atypically hypointense on all pulse sequences in 27%
          • hypointense thick fibrous wall (DDx: PID)
          • multilocularity + multiplicity
          • adhesion to surrounding organs, eg, bowel tethering and sharp angulations
      • Cx:
        • Adhesions
          • fixed pelvic organs (during bimanual US)
          • obscuration of organ interfaces
          • posterior displacement of uterus (retroverted uterus) and ovaries
          • angulation of bowel loops
          • elevation of posterior vaginal fornix
          • loculated fluid collection
          • hydrosalpinx
        • Malignant transformation (<1%)
          • endometrioid carcinoma > clear cell carcinoma
            Dx: laparoscopy / surgery
            Rx: (1) Expectant
              (2) Hormonal therapy (for pelvic pain / dyspareunia) to create a state of pseudopregnancy /pseudo-menopause / chronic anovulation: danocrine (Danazol®), GRH agonist (Lupron®), oral contraceptive pills
              (3) Surgery (for infertility / intractable pain): implant recurrence in 28% by 18 months + in 40% by 9 years; adhesion recurrence in 40–50%
P.1041

Atypical Sites of Endometrial Implantation
  • @ GI tract (12–37%)
    • catamenial diarrhea, constipation
    • rectal pain / bleeding
    Path: initially serosal endometriotic deposits that erode into bowel wall causing hypertrophy + fibrosis of muscularis propria
    Location: inferior margin of sigmoid colon + anterior wall of rectosigmoid (72%); rectovaginal septum (14%); distal ileum (7%); cecum (4%); appendix (3%); occasionally multiple lesions
    • single extramucosal mass with crenulated / spiculated mucosal pattern (DDx: drop metastasis)
    • polypoid intraluminal mass / annular constricting lesion (rare appearance)
      Cx: adhesion, bowel stricture, GI obstruction
  • @ GU tract (20%)
    • urgency, frequency, hematuria
    • urinary obstruction, flank pain
    Path: initially serosal endometriotic deposits that may infiltrate into bladder / ureteral wall
    • mass projecting into bladder lumen typically at dome of bladder (DDx: bladder cancer)
    • smooth / tapered / angulated short to medium-length ureteral stricture near inferior aspect of sacroiliac joint
  • @ Chest
    • = THORACIC ENDOMETRIOSIS SYNDROME
    • pleuritic chest pain, cyclic hemoptysis
      Cause: microembolization (via lymphatics or vascular channels), peritoneal-pleural migration (through diaphragmatic defects)
      Time of onset: 5 years after pelvic endometriosis
    • presenting symptoms:
      • pneumothorax (73%), hemothorax (14%)
      • hemoptysis (7%), lung nodules (6%)
    • almost exclusively right-sided pleural lesions
    • bilateral lung nodules
    • catamenial pneumothorax
    • pleural effusion
  • @ Cutaneous Tissue
    • palpable mass ± catamenial bleeding
    • focal pain / tenderness associated with menses
    Location: laparotomy scar, cervical biopsy / electrocautery, episiotomy scar, umbilicus
    • well-defined hypoechoic / cystic / solid mass
    • hyperechoic border / tissue stranding (due to inflammatory reaction)
    DDx: abscess, hematoma, hernia, sebaceous cyst, lipoma, hemangioma, malignant tumor
  • @ CNS
    • cyclic headaches, seizures
    • subarachnoid hemorrhage
Ruptured Ovarian Endometrioma
= uncommon acute complication
  • acute abdomen (due to chemical peritonitis)
    • distorted shape of endometrioma
    • thinned irregular wall component = rupture site
    • markedly hyperintense fluid in free intraperitoneal space on fat-suppressed T1WI
      Rx: emergency surgery
Facial Clefting
Incidence: 0.5:1,000 in Blacks; 1:1,000 live births in white population; 1.5:1,000 in Asians; 3.6:1,000 in American Indians; 13% of all congenital anomalies; second most common congenital malformation; most common craniofacial malformation
Normal embryology: 1st branchial arch develops into maxillary + mandibular prominences; by 5th week the stomadeum is surrounded by 5 prominences: frontal-nasal, paired maxillary, paired mandibular prominences; nasal pits are formed by invagination of nasal placodes on each side of frontal-nasal prominence; the 2 maxillary prominences grow medially to fuse with the 2 medial nasal prominences forming the upper lip; the lateral nasal prominences form the nasal alae
Risk of recurrence: 4% with one affected sibling, 17% with one affected sibling + parent
Median Facial Cleft
  • = failure of fusion of the 2 medial nasal prominences
  • Incidence: rare
  • Cause:
    • median cleft face syndrome = frontonasal dysplasia
      • brain anomalies rare
    • Holoprosencephaly
    • Majewski syndrome (short rib, polydactyly, median cleft)
Lateral Facial Cleft
Cleft Lip (25%)
Cause: lack of fusion of maxillary prominence with medial nasal prominence (= intermaxillary segment) around 7th week MA
Associated with: anomalies in 20% (most frequently clubfoot); NO chromosomal anomalies
Site: isolated in 8%, bilateral in 20%
  • linear echo-poor region extending from one side of fetal upper lip into nostril
Prognosis: excellent
Cleft Lip & Palate (50%)
Cause: incomplete fusion of lip + primary palate with secondary palate
Associated with: 72 abnormalities in 56–80%: most frequently polydactyly; chromosomal anomalies in 20–33%
Location: L > R
Site: unilateral in 23%, bilateral in 30%
  • linear defect extending through alveolar ridge + hard palate reaching the floor of the nasal cavity / orbit (often deeper + longer cleft than in isolated cleft lip)
  • P.1042

  • paranasal echogenic mass inferior to nose (= premaxillary protrusion of soft tissue + alveolar process + dental structures) in bilateral cleft lip + palate
    Facial Clefting
Cleft Palate (25%)
= lack of fusion of mesenchymal masses of lateral palatine processes around 8th–9th weeks MA
Associated with: anomalies in 50% (most frequently clubfoot + polydactyly)
  • often missed on prenatal sonograms
  • small fetal stomach + polyhydramnios (due to impaired fetal swallowing)
Fetal Cardiac Dysrhythmias
Normal heart rate: 120–160 bpm
Premature Atrial Contractions
= PAC = most common benign rhythm abnormality
  • transient tachycardia
  • transient bradycardia (due to atrial bigeminy if every other beat is nonconducted)
Cx: supraventricular tachycardia (unusual)
Rx: discontinue smoking, alcohol, caffeine
Follow-up: biweekly auscultation until arrhythmia resolves
Supraventricular Tachyarrhythmia
Incidence: 1:25,000; most frequent tachyarrhythmia in children
Etiology: viral infection, hypoplasia of sinoatrial tract
  • Pathogenesis:
    • Automaticity = irritable ectopic focus discharges at high frequency
    • Reentry = electric pulse reentering the atria inciting new discharges
  • Types:
    • Supraventricular tachyarrhythmia (SVT)
      • paroxysmal supraventricular tachycardia
      • paroxysmal atrial tachycardia
        • atrial rate of 180–300 bpm + ventricular response of 1:1
    • Atrial flutter
      • atrial rate of 300–460 bpm + ventricular rate of 60–200 bpm
    • Atrial fibrillation
      • atrial rate of 400–700 bpm + ventricular rate of 120–200 bpm
  • Hemodynamics:
    • fast ventricular rate results in suboptimal filling of heart chambers + decreased cardiac output, overload of RA, CHF
  • Associated with:
    • cardiac anomalies (5–10%): ASD, congenital mitral valve disease, cardiac tumors, WPW syndrome, cardiomyopathy
    • thyrotoxicosis
  • OB-US:
    • M-mode echocardiography with simultaneous visualization of atrial + ventricular contractions allows inference of atrioventricular activation sequence
Cx: congestive heart failure + nonimmune hydrops
Rx: Intrauterine pharmacologic cardioversion (digoxin, verapamil, propranolol, procainamide, quinidine)
Atrioventricular Block
Incidence: 1:20,000 live births; in 4–9% of all infants with CHD
Etiology: (1) Immaturity of conduction system
  (2) Absent connection to AV node
  (3) Abnormal anatomic position of AV node
  • Associated with:
    • Cardiac structural anomalies (45–50%): corrected transposition, univentricular heart, cardiac tumor, cardiomyopathy
    • Maternal connective tissue disease: lupus erythematosus
  • Types:
    • First-degree heart block = simple conduction delay
      • normal heart rate + rhythm (not reportedly diagnosed in utero)
    • Second-degree heart block
      • Mobitz type I
        • = progressive prolongation of PR interval finally leading to the block of one atrial impulse (Luciani-Wenckebach phenomenon)
        • a few atrial contractions are not followed by a ventricular contraction
      • Mobitz type II
        • = intermittent conduction with a ventricular rate as a submultiple of the atrial rate (eg, 2:1 / 3:1 block)
        • atrial contraction not followed by ventricular contraction in a constant relationship
    • Third-degree heart block = complete heart block
      • = complete dissociation of atria + ventricles
      • slow atrial + ventricular contractions independent from each other
Cx: decreased cardiac output + CHF
Fetal Death in Utero
  • = INTRAUTERINE DEMISE
  • = fetal death during 2nd + 3rd trimesters
  • P.1043

  • Specific signs:
    • absent cardiac / somatic motion
  • Nonspecific signs seen not before 48 hours after death:
    • same / decreased BPD measurement compared with prior exam
    • development of dolichocephaly
    • “Spalding sign” = overlapping fetal skull bones
    • distorted fetus without recognizable structures
    • skin edema (epidermolysis) = fetal maceration
    • increased amount of echoes in amniotic fluid (= fetal tissue fragments)
    • gas in fetal vascular system
“Vanishing Twin”
= disappearance of one twin in utero due to complete resorption / anembryonic pregnancy
Incidence: 13–78% (mean 21%) before 14 weeks GA
Time: <13 weeks MA
  • NO sonographic evidence of twin pregnancy later in pregnancy
“Fetus Papyraceus”
  • = compression + mummification of fetus
    Time: in 2nd trimester
    Path: resorption of fluid resulting in paperlike fetal body + compression into adjacent membranes
  • compressed mummified fetus plastered against uterine wall
  • Risk to surviving twin:
    • Dichorionic gestation (minimal risk)
      • Premature labor
      • Obstruction of labor by macerated fetus
    • Monochorionic gestation
      • DIC in response to release of thromboplastin from degenerating fetus
        • into maternal circulation
        • into twin fetus through shared circulation (= twin embolization syndrome)
Fetal Hydrops
Nonimmune Hydrops
  • = excess of total body water evident as extracellular accumulation of fluid in tissues + serous cavities without antibodies against RBC
  • Incidence: 1:1,500 to 1:4,000 deliveries
  • Cause:
    • Cardiac anomalies (40%):
      • structural heart disease (25%): AV septal defect, hypoplastic left heart, rhabdomyoma
      • tachyarrhythmia (15%)
    • Hematologic causes: thalassemia, hemolysis, fetal blood loss
    • Idiopathic (25–44%)
    • Twin-twin transfusion (20%)
    • Chromosomal abnormalities (6%): Turner syndrome
    • Skeletal dysplasias: achondroplasia, achondrogenesis, osteogenesis imperfecta, thanatophoric dwarfism, asphyxiating thoracic dysplasia
    • Renal disease (4%): congenital nephrotic syndrome
    • Infections: toxoplasmosis, CMV, syphilis, Coxsackie virus, parvovirus
    • Cervical tumors: teratoma
    • Chest masses: cystic adenomatoid malformation, extralobar sequestration, mediastinal tumor, rhabdomyoma of heart, diaphragmatic hernia
    • Abdominal masses: neuroblastoma, hemangioendothelioma of liver
    • Placental tumors: chorioangioma
Prognosis: 46% death in utero; 17% neonatal death
Immune Hydrops
  • = ERYTHROBLASTOSIS FETALIS
  • = lysis of fetal RBCs by maternal IgG antibodies
    Prevalence: 35:10,000 live births at risk
  • Pathophysiology:
    • rh-negative women (= no D antigen) may become isoimmunized (= alloimmunization) if exposed to paternally derived fetal Rh-positive blood inherited from the father (= D allotype present); maternal IgM antibodies develop initially, later IgG antibodies with ability to cross placenta (= transplacental passage)
  • Cause of isoimmunization:
    • fetomaternal hemorrhage during pregnancy / delivery / spontaneous or elective abortion if fetus is D-positive; fetus has a 50% chance of being rh-negative as 56% of RhD-positive fathers are heterozygous for D antigen
  • At risk:
    • Caucasians (15%), Blacks (6%), Orientals (1%); absence of D antigen originates in Basques
  • Determination of extent of disease by:
    • Optical density shift at 450 nm (= delta OD 450) reflects amount of bilirubin in amniotic fluid; reasonably reliable only >25 weeks MA; unreliable in alloimmunization due to Kell antibodies
    • Percutaneous umbilical cord sampling (PUBS) with direct determination of Hct and Hb
  • hemolysis + anemia
  • anasarca (= skin edema)
  • fetal ascites in 2nd trimester (indicates severe anemia with Hct <15%, Hb <4 g/dL; present in only 66%)
  • pleural effusion
  • increased diameter of umbilical vein
  • subcutaneous edema (skin thickness >5 mm)
  • polyhydramnios (75%)
  • placentomegaly >6 cm
  • pericardial effusion
  • hepatosplenomegaly
  • increased blood flow in middle cerebral artery (due to increased cardiac output + decline in blood viscosity)
  • Prophylaxis:
    • Rh immune globulin (RhoGAM® = antibody against D antigen) blocks antigen sites on Rh-positive cells in maternal circulation to prevent initiation of maternal antibody production; Rh immune globulin given at 28 weeks to all rh-negative women
  • OB management:
    • regular monitoring from 18 weeks on when maternal anti-D concentration exceeds 4 IU/mL (severe anemia unlikely if maternal antibodies <15 IU/mL)
P.1044

Prognosis: (if untreated) 45–50% mild anemia, 25–30% moderate anemia (with neonatal problems only), 20–25% develop hydrops (death in utero / neonatally)
Rx: umbilical vein transfusion during PUBS (necessary in only 10% before 34 weeks GA)
Fetal Trauma
Incidence: 7% of pregnant patients sustain accidental injury (greatest frequency during 3rd trimester); 0.3–0.4% are admitted to a hospital
Cause: motor vehicle accident (66%), physical abuse (10%)
  • Type of injury to pregnancy:
    • Uterine rupture (0.6%)
    • Complete (6–66%) / incomplete (30–80%) placental separation
  • US:
    • evaluate fetal motion, breathing, heart rate, placenta
  • The major cause of fetal death is maternal death!
Gartner Duct Cyst
Frequency: 1–2%
Origin: remnant of vaginal portion of mesonephric / wolffian duct with incomplete involution + persistent glandular secretion
Histo: lined by flat cuboidal / columnar epithelium
May be associated with: complex renal + urogenital malformations
  • Herlyn-Werner-Wunderlich syndrome = ipsilateral renal agenesis + ipsilateral blind vagina
  • Ectopic ureter inserting into Gartner duct cyst
  • usually asymptomatic
Location: anterolateral aspect of proximal third of vaginal wall extending into ischiorectal fossa
  • well-defined round lesion with fluid contents
  • large cysts may displace ureter upward / protrude through introitus
Cx: dyspareunia; interference with vaginal delivery
Gastroschisis
= paramedian full-thickness abdominal fusion defect usually on right side of umbilical cord; may involve thorax; bowel is nonrotated and lacks secondary fixation to dorsal abdominal wall
Incidence: 1–2:10,000 live births (same as omphalocele), sporadic
  • Cause:
    • abnormal involution of right umbilical vein resulting in rupture of anterior abdominal wall at area of weakness
    • premature interruption of right omphalo-mesenteric artery (normally persists proximally as superior mesenteric artery) resulting in ischemic damage to abdominal wall
Age of occurrence: 37 days (5 weeks) of embryonic life
Age of detection: difficult <20 weeks GA due to small size of defect (1–3 cm) + lack of bowel dilatation
  • Associated anomalies (5%):
    • intestinal atresia / stenosis (25%; small size of opening leads to compression or torsion of vessels); ectopia cordis (rare)
  • MS-AFP ≥2.5 MoM in 77–100%
  • exteriorized bowel = thick-walled edematous freely floating loops outside fetal abdomen (due to lack of peritoneal covering)
  • dilated intra- / extraperitoneal bowel
  • <2–5 cm paraumbilical defect, usually on right side of cord insertion
  • normal insertion of umbilical cord
  • no fetal ascites
  • polyhydramnios may be present
  • liver / spleen may herniate infrequently
  • malrotation / nonrotation of bowel
  • Cx before birth:
    • Bowel obstruction
    • Peritonitis (exposure of bowel to fetal urine / meconium)
    • Perforation (from peritonitis)
    • Fetal growth restriction (38–77%) secondary to nutritional loss from exposed bowel
  • Cx after birth:
    • malrotation, jejunal / ileal atresia (18%), bowel necrosis, necrotizing enterocolitis, hyperalimentation hepatitis, prolonged intestinal motility dysfunction, chronic short-gut syndrome
Mortality rate: 17%
Survival rate: 87–100% after surgical treatment (during 1st day of life, not influenced by mode of delivery); death from premature delivery / sepsis / bowel ischemia
Germ Cell Tumor of Ovary
= malignant (except for mature teratoma) ovarian tumors of varying histology
Age: 14 years on average
  • pelvic / abdominal pain + mass
  • elevated alpha-fetoprotein (60% in immature teratoma; 100% in endodermal sinus tumor)
  • elevated β-hCG (30% of endodermal sinus tumors)
  • average diameter of 15 cm
  • unilateral, rarely bilateral
  • calcifications (40%)
  • homogeneously solid (3%), predominantly solid (85%), predominantly cystic (12%)
Gestational Trophoblastic Disease
  • = group of disorders as a result of an aberrant fertilization event arising from trophoblastic elements of the developing blastocyst with invasive tendency
  • Components of trophoblast:
    • Cytotrophoblast = stem cell with high mitotic activity
    • Syncytiotrophoblast = synthesis of β-hCG
    • Intermediate trophoblast = responsible for endometrial invasion + implantation
  • increased levels of β-hCG
Incidence: <1% of all gynecologic malignancies
Associated with: molar pregnancy (most), post abortion, ectopic pregnancy, term pregnancy
Spectrum: 1. Benign hydatidiform mole (80–90%)
  2. Invasive mole (5–8–10%)
  3. Choriocarcinoma (1–2–5%)
  4. Placental site trophoblastic tumor (rare)
P.1045

  • Cytogenesis:
    • = fertilization of one egg by two sperm = chromosomes completely / predominantly of paternal origin
    • Diploid karyotype
      • 46, XX = from fertilization of ovum by two 23, X sperm after loss of maternal haploid chromosomes
      • 46, XY = from fertilization of a chromosomally empty ovum by two different sperm:
        • in complete hydatidiform mole (almost 100%), invasive mole (almost 100%), choriocarcinoma (50%)
    • Triploid karyotype (69, XXX; 69 XXY; 69, XYY)
      • = fertilization of a normal ovum (23, X) by 2 different sperm thus containing 2/3 paternal chromosomes
        • occurs in partial hydatidiform mole
          At risk: maternal age >35 years and <20 years, previous molar gestation, previous spontaneous abortions
Granulosa Cell Tumor
= most common hormone-active estrogenic tumor of ovary
Incidence: 1–2–3% of all ovarian neoplasms
Origin: from cells surrounding developing follicles
Age: puberty (5%), reproductive age (45%), postmenopausal (50%)
  • Path:
    • large encapsulated smooth / lobulated multicystic mass with thick irregular septa + solid components; multiple blood-filled cysts (due to hemorrhage / cystic degeneration when tumor gets larger)
    • unilocular cyst (rare) apt to manifest with virilization
  • abdominal pain (acute hemorrhage into tumor / rupture into peritoneal cavity)
  • palpable adnexal mass
Location: unilateral in 90–95%; bilateral in 5%
  • multilocular mass containing cystic spaces with fluid / blood (most frequently) + solid components:
    • thick irregular septations but NO intracystic papillary projections
    • usually large with sizes up to 40 cm in diameter
  • predominantly solid small hypoechoic mass simulating fibroid (less common)
  • calcifications (rare)
  • MR:
    • hyperintense on T1WI (hemorrhage within tumor cysts)
    • “spongelike” appearance of mostly solid intermediate signal intensity with innumerable cystic spaces
  • Estrogenic effects:
    • uterine enlargement
    • endometrial thickening / hemorrhage
    • endometrial hyperplasia / polyps / carcinoma
  • Pattern of dissemination:
    • local extension
    • peritoneum-based metastases similar to epithelial neoplasm (rare)
    • cystic liver metastases
Rx: uni- / bilateral salpingo-oophorectomy ± postoperative chemotherapy
DDx: serous / mucinous ovarian tumor (intracystic papillary projections)
Adult Granulosa Cell Tumor
  • Most common estrogenic ovarian tumor! (occasionally produces androgen)
Incidence: 95% of all GCT; 5–10% of solid ovarian tumors
Age: in peri- and postmenopausal women; peak prevalence at 50–55 years
Histo: macrofollicular (multiple cysts resembling follicles), microfollicular (with Call-Exner bodies), insular, trabecular, cylindromatous, watered silk, diffuse type; frequently accompanied by theca cells + fibroblasts
  • irregular menstruation cycles, menorrhagia
  • postmenopausal bleeding
  • amenorrhea
  • 90% present at stage I (confined to ovary)
Cx: (1) Malignant transformation (5–25%)
  (2) Low-grade endometrial carcinoma (3–25%)
  (3) Recurrence (raised serum aromatase + estradiol levels)
Recurrence: common even decades after resection with slow growth
Juvenile Granulosa Cell Tumor
Incidence: 5% of all GCT; more common than adult GCT in patients <30 years old
Mean age: 13 years; 3% in women >30 years of age
Histo: larger cells with hyperchromatic nuclei + lack of characteristic nuclear groves (compared with adult GCT)
Associated with: Ollier disease, Maffucci syndrome
  • sexual pseudoprecocity (estrogen effect without ovulation)
  • GCT accounts for 10% of cases of precocious puberty
Cx: malignant degeneration (rare)
Prognosis: 80–93% cure rate after surgery
Recurrence: unusual after simple resection for stage Ia / Ib tumors
Hellp Syndrome
= Hemolysis, Elevated Liver enzymes, Low Platelets
Prevalence: 4–12% of patients with severe preeclampsia / eclampsia; higher in White women (24%), with delayed diagnosis of preeclampsia / delayed delivery (57%), in multiparous patients (14%)
Time of onset: before / immediately after birth
Histo: portal areas surrounded by deposited fibrin + hemorrhage + hepatocellular necrosis
  • epigastric / RUQ pain (90%)
  • nausea + vomiting (45%), occasionally jaundice
  • headache (50%)
  • demonstrable edema (55%)
  • tender hepatomegaly
  • fatty infiltration of liver (peak at 35th week)
  • intraparenchymal hemorrhage of liver leading to subcapsular hematoma / rupture into peritoneal cavity
  • hepatic necrosis
  • subcapsular hematoma of kidney
  • ascites + pleural effusions
  • vitreous hemorrhage
P.1046

Cx: (1) Perinatal mortality (8–60%)
  (2) Maternal death (3–24%) from hepatic necrosis, hemorrhagic liver infarction, liver rupture, DIC, abruptio placentae, acute renal failure, sepsis
Hydatidiform Mole
= MOLAR PREGNANCY
Frequency: 1:1,200 to 1:2,000 pregnancies; <5% of abortions
Prognosis: noninvasive in 85%, locally invasive in 13%, metastasizing in 2%
Complete / Classic Mole
= fertilization of ovum by two haploid 23, X sperm after loss of maternal haploid chromosomes (46, XX) or one sperm which duplicates its genes within egg or occasionally fertilization of an “empty egg” (= ovum with no active chromosomal material) by 2 different sperm (46, XY)
Histo: generalized hydropic swelling of all chorionic villi with prominent acellular space centrally; pronounced trophoblastic proliferation of syncytio- and cytotrophoblast
  • severe eclampsia prior to 24 weeks
  • uterus too large for dates (in 50%)
  • 1st trimester bleeding
  • marked elevation of β-hCG with hyperemesis
  • passing of grapelike vesicles per vagina
  • hyperthyroidism (due to thyroid-stimulating properties of β-hCG)
  • anemia (secondary to plasma volume expansion + vaginal bleeding)
  • diploid karyotype, almost always paternal XX chromosomes
  • hyperechoic to moderately echogenic central uterine mass interspersed with punctate hypoechoic areas
  • numerous discrete cystic spaces (= hydropic villi) within a central area of heterogeneous echotexture
  • in 25% atypical appearance:
    • large hyperechoic areas (blood clot) + areas of cystic degeneration resembling incomplete abortion
    • single large central fluid collection with hyperechoic rim mimicking an anembryonic gestation / abortion
  • no fetal parts / no chorionic membrane
  • bilateral theca lutein cysts (18–37–50%), which may take 4 months to regress after evacuation of a molar pregnancy
  • ± ascites
Prognosis: in 80–85% benign, in 15–20% invasive mole / choriocarcinoma
Rx: dilatation + suction curettage (curative in 85%)
DDx: (1) Hydropic degeneration of the placenta (associated with incomplete / missed abortions)
  (2) Degenerated uterine leiomyoma
  (3) Incomplete abortion = retained products with hemorrhage
  (4) Choriocarcinoma
  (5) Loculated abruptio placentae
  (6) Hydropic changes of the placenta
Complete Mole with Coexistent Fetus (1–2%)
= molar degeneration of one conceptus of a dizygotic twin pregnancy with same risk of malignant degeneration as in classic mole
  • vaginal bleeding in 2nd trimester
  • uterus large for dates
  • abnormally elevated serum β-hCG
  • amniocentesis with normal diploid karyotype excludes diagnosis of partial mole
  • normal gestation with placenta + separate typical echogenic material of a hydatidiform mole
  • ovarian theca lutein cysts
Prognosis: fetal survival unlikely due to maternal complications from coexistent mole
Invasive Mole
= chorioadenoma destruens
Histo: excessive trophoblastic proliferation with presence of villous structure + invasion of myometrium
Preexisting condition: complete / partial hydatidiform mole
  • history of previous molar gestation / missed abortion (75%)
  • continued uterine bleeding
  • persistently elevated β-hCG levels (with failure of β-hCG to return to undetectable levels after treatment of a complete hydatidiform mole)
  • hyperechoic tissue with punctate lucencies
  • irregular focal hyperechoic region within myometrium
  • bilateral theca lutein cysts, 4–8 cm in size
  • myometrial invasion occasionally demonstrable
Rx: chemotherapy, hysterectomy (if at risk for uterine perforation)
Partial Mole
= areas of molar change alternating with normal villi + nonviable fetus with significant congenital anomalies
Histo: moderate focal proliferations of syncytiotrophoblast; normal villi interspersed with hydropic villi
  • triploid karyotype (66% 69, XXY; 33% 69, XXX) due to fertilization of single ovum by 2 sperm
  • early onset of preeclampsia
  • nearly always coexistent fetus with severe abnormalities
  • placenta with numerous cystic spaces
  • Prognosis:
    • frequently spontaneous abortion (unrecognized as mole for lack of karyotyping of the abortus)
    • no survival of triploid fetus
    • 3% risk of persistent gestational trophoblastic neoplasia
Hydro- / Hematometrocolpos
= accumulation of sterile fluid (hydro~) / blood (hemato~) / pus (pyo~) within uterus (~metria) + vagina (~colpos);
  • premenarcheally = secretions + mucus
  • postmenarcheally = blood
    Incidence: 1:16,000 female births
  • vague pelvic discomfort
  • pain during defecation / urination
  • asymptomatic
  • smooth symmetric enlargement resulting in pear-shaped uterus ± distended vagina
  • varying amounts of low-level internal echoes centrally within uterus continuous with vaginal canal
  • hematosalpinx ± endometriosis
  • P.1047

  • OB-US:
    • cystic / midlevel echogenic retrovesical mass (mucous secretions secondary to stimulation by maternal estrogens during fetal life)
    • cystic mass ± fluid-debris level (distended vagina)
    • bladder often not identified (compression by distended vagina)
DDx: ovarian cyst, duplication cyst, meconium cyst, mesenteric cyst, rectovesical fistula, anterior meningocele, cystic tumor, trophoblastic disease, degenerating leiomyoma / leiomyosarcoma
Cx: endometritis, myometritis, parametritis (= pelvic lymphangitis), pelvic abscess, septic pelvic thrombophlebitis, urinary tract infection
Acquired Hydro- / Hematometra
  • Cause:
  • neoplastic obstruction of endocervical canal / vagina, postpartum infection, attempted abortion, cervical stenosis after radiotherapy, postsurgical scarring (eg, dilatation & curettage, traumatic delivery), senile contraction
Congenital Hematometra / Hematometrocolpos
Age: puberty
  • Cause:
    • persistent urogenital sinus = single exit chamber for bladder + vagina; separate orifice for anus; caused by virilization of female fetus / intersex anomaly / arrest of normal vaginal development
      Frequently associated with: ambiguous genitalia
      Age: newborn period
    • cloacal malformation = single perineal orifice for bladder + vagina + rectum; caused by early embryologic arrest
      Frequently associated with: duplex genital tract
      Age: newborn period
    • imperforate hymen, transverse vaginal septum, segmental vaginal atresia, imperforate cervix, blind horn of bicornuate uterus, Mayer-Rokitansky-Küster-Hauser syndrome (= agenesis of uterus + vagina with active uterine anlage)
    • Hematometrocolpos / hematocolpos are due to imperforate hymen / transverse vaginal septum
    • Hematometra is due to cervical dysgenesis + vaginal agenesis / Mayer-Rokitansky-Küster-Hauser syndrome / obstructed uterine horn
  • primary amenorrhea = “delayed menarche”
  • cyclical abdominal pain
  • interlabial mass
  • May be associated with:
    • imperforate anus, hydronephrosis, renal agenesis / dysplasia, polycystic kidneys, duplication of vagina + uterus, sacral hypoplasia, esophageal atresia
Immature Teratoma of Ovary
= EMBRYONAL TERATOMA = MALIGNANT TERATOMA
= SOLID TERATOMA
Histo: immature tissue resembling those of the embryo; grade 0–3 reflect amount of immature neuroectodermal tissue
May be associated with: gliomatosis peritonei = multiple peritoneal implants of mature glial tissue
  • elevated AFP levels (50%)
  • no elevation of serum hCG levels
  • predominantly solid tumor with numerous cysts of varying size
  • scattered calcifications (due to invariable association with mature teratoma)
Incompetent Cervix
= gaping cervix usually develops during 2nd trimester /early 3rd trimester
Predisposed: cervical trauma (D & C, cauterization), DES exposure in utero with cervical hypoplasia, estrogen medication
  • physical examination tends to underestimate the true length of the cervix
  • Appearance of cervix may change during course of sonographic examination!
    Cause: uterine contraction / manual pressure on fundus / patient erect (stress test of cervix) / degree of bladder distention
  • dilatation of cervical canal beginning at internal os + extending toward external os:
    • beaking / funneling of cervical canal
    • bulging of membranes through external os (= amniotic fluid within dilated endocervical canal)
    • visualization of fetal parts within dilated endocervical canal
  • shortening of cervix to <25 mm
Prognosis: 14th–18th week best time for Rx prior to significant cervical dilatation
Infertility
= failure to conceive after 1 year of unprotected intercourse
Incidence: affects 10–15% of couples
  • Etiology:
    • female factors (55%):
      • Tubal disease (10–20–40%): congenital anomalies, DES exposure, pelvic inflammatory disease, salpingitis isthmica nodosa, endometriosis, postoperative factors, polyp, neoplasm, ectopic pregnancy
      • Uterine factors (2–5%): bicornuate uterus, septate uterus, DES exposure, intrauterine adhesions, endometrial inflammation / infection, uterine neoplasm, complications after pregnancy, leiomyoma
      • Ovulatory disorder (10–20%)
      • Pelvic factors (20–25%)
      • Cervical factors (5–10%)
          Transabdominal Transvaginal
        1st trimester (<14 wks) 53 ± 17 mm 40 ± 8 mm
        2nd trimester (14–28 wks) 44 ± 14 mm 42 ± 10 mm
        3rd trimester (≥ 28 wks) 40 ± 10 mm 32 ± 12 mm
        ⋄ Distended bladder improves visualization but increases cervical length on transabdominal US!
        ⋄ Difference between nulli- and multiparous women 10%!
    • P.1048

    • male factors (40%)
    • combination of factors (15–25%)
    • unknown cause (5–10%)
  • Tests:
    • history + physical examination
    • laboratory tests (mainly hormonal)
    • basal body temperature measurement
    • postcoital test
    • cervical culture
    • endometrial biopsy
    • sonographic monitoring of ovaries
    • sperm agglutination studies
    • in vitro mucus penetration test
    • laparoscopy + hysteroscopy
    • hysterosalpingography
Intrauterine Contraceptive Device
  • double echogenic line with plastic IUD
  • reverberation echoes with metal IUD
  • Types of IUD:
    • Lippes loop
      • 4–5 echogenic dots on SAG view
      • horizontal line / dot on TRV view
    • Saf-T-coil
      • echogenic solid line on SAG view
      • series of echoes / dot on TRV view
    • Copper 7 / Copper T / Progestasert®
      • dot in fundus + solid line in corpus on SAG view
      • solid line in fundus + dot in corpus on TRV view
    • Dalkon shield (no longer produced)
Cx: pelvic inflammatory disease (2–3-fold risk compared with that of non-IUD users) in 35%; actinomycosis with IUD in place for >6 years
“Lost IUD”
= locator device not palpated
Cause: 1. expulsion of IUD
  2. migration of thread
  3. detachment of thread
  4. uterine perforation of IUD
  • Abdominal plain film is indicated if IUD not identified by US!
IUD & Pregnancy
  • IUD may not be visualized after 1st trimester (as uterus grows IUD is drawn into cavity)
Prognosis: high risk of septic abortion
Rx: early removal of IUD if string remained in vagina
Intrauterine Growth Restriction
  • = FETAL GROWTH RETARDATION
  • = perinate with a weight at / below the 10th percentile for gestational age occurring as a result of a pathologic process inhibiting expression of normal intrinsic growth potential
for twin pregnancy: discordant weight >25%
  • Fetal weight at / below 10th percentile for age will classify 7% of normal fetuses as growth retarded!
Prevalence: 3–7% of all deliveries; in 12–47% of all twin pregnancies; in 25% of fetuses following birth of a growth-retarded sibling / stillborn
  • fundal height as screening test (37–60% true positive, 40–55% false negative; 26–60% false positive)
  • IUGR is primarily an ultrasound diagnosis!
  • Sequence of events in fetal hypoxia:
    • nonreactive CST > absence of fetal breathing > nonreactive NST > diminished fetal movements > absence of fetal movements > absence of fetal tone
  • Etiology:
    • UTEROPLACENTAL INSUFFICIENCY (80%)
      • = injury during period of cell hypertrophy resulting in decreased cell size with features of intrauterine starvation + protective cardiac output redistribution reflex
      • absence of body fat
      • diminished liver and muscle glycogen
      • Maternal causes:
        • asymmetric IUGR / symmetric IUGR (in severe cases)
        • deficient supply of nutrients:
          • cyanotic heart disease, severe anemia (in 10–25% of sickle cell anemia), maternal starvation, life in high altitudes, drugs (anticonvulsants, methotrexate, warfarin), alcohol abuse (dose related), illicit drugs (up to 50% with heroine addiction, 30% with cocaine abuse), uterine anomaly, multiple gestation (in 15–20%)
        • maternal vascular disease resulting in inadequate placental perfusion:
          • nicotine-induced release of catecholamines, preconceptual diabetes, preeclampsia, chronic renal disease collagen vascular disease (SLE)
        • maternal demographics:
          • maternal age (adolescence / advanced), nulliparous mother, small short habitus, racial influence (Asians)
      • Primary placental causes:
        • extensive placental infarctions, chronic partial separation (abruption), partial mole, Breus mole, chorioangioma, placenta previa, low implantation, placental metastases (breast, melanoma), placentitis (luetic, malaria)
          Histo: reduction in placental villous surface area + in number of capillary vessels
          • asymmetric growth failure
    • PRIMARY FETAL CAUSES (20%)
      • = injury during the period of cell hyperplasia (= embryogenesis) producing profound reduction in cell number across all cell lines
      • symmetric IUGR (globally decreased intrinsic growth)
      • normal / increased amniotic fluid volume
      • Chromosomal abnormalities (in 2–6%):
        • triploidy, tetraploidy, trisomy 13 + 18 + 21, aneuploidy (Turner syndrome), partial deletion(4p, 5p [cri du chat], 13q), partial trisomy (4p, 18p, 10q, 18q), unbalanced translocation (chromosomes 4 + 15), balanced translocation (chromosomes 5 + 11)
      • Structural anomalies:
        • congenital heart disease, genitourinary anomalies, CNS anomalies, dwarfism
      • Viral infection:
        • rubella (in 40–60%), CMV, varicella (in 40%)
      P.1049

      • All fetuses with IUGR need to have a detailed and often repeated search for structural anomalies!
Diagnostic Ultrasound Methods in IUGR
  • An accurate fix on fetal age dictates accuracy of diagnosis of IUGR (early US exam, clinical dates, early physical exam, pregnancy test)!
  • Every effort needs to be made to determine the underlying cause for growth failure as it effects management + perinatal morbidity and mortality!
  • Fetal morphometric indices
    • The three key parameters for diagnosing IUGR are
      • low estimated fetal weight (EFW),
      • low amniotic fluid volume (AFV),
      • maternal hypertension (HBP)!
    • intrafetal proportions
      • elevated HC ÷ AC ratio for dysmature IUGR (overall 36% sensitive, 90% specific, 67% PPV, 72% NPV; 93% sensitive in fetus >28 weeks MA with severe dysmature IUGR)
      • Early-onset dysmature IUGR not detectable!
      • May not be used in anomalous fetuses!
    • rate of growth = growth velocity
      • HC, AC, FL measurements allow DDx between erroneous dates + normal small fetus + fetus with intrinsic abnormality
      • plot growth curves
      • Minimum time interval of 2 weeks necessary!
  • Amniotic fluid volume
    • Screening for decreased amniotic fluid is of value in the fetus with dysmature IUGR (60–84% sensitive, 79–100% accurate)!
    • normal amniotic fluid does not exclude IUGR
    • oligohydramnios means dysmature IUGR in a fetus with normal GU tract until proven otherwise (DDx: trisomy 13 + 18)
  • Fetal morphologic assessment + fat distribution
    • diminished thigh circumference
    • absent paraspinal fat pad (posterior neck)
    • reduced / absent malar fat pads
      Effect of Birth Weight on Perinatal Morbidity and Mortality
    • disproportionately small liver size
    • increased small bowel echogenicity (= absent omental fat)
  • Placental assessment
    • increased placental calcium deposition
  • Biophysical profile
    Accuracy: false-negative fetal death rate of 0.645/1000 fetuses within 1 week of the last normal BPP; 33% sensitivity, 17% positive predictive value
  • Invasive fetal testing:
    • fetal blood analysis for karyotyping, hypoxemia, hypercapnia, acidemia, hypoglycemia, hypertriglyceridemia
  • Nonstress test (NST)
  • Contraction stress test (CST)
Diagnostic Doppler Methods in IUGR
  • PLACENTAL PERFUSION
    • Umbilical artery velocimetry (UA)
      • Not useful with unknown dates / for screening!
      • Better predictor of adverse perinatal outcome than MCA or RA pulsatility index
        Pathophysiology: fewer terminal villi due to developmental defect / villous infarction
      • elevated systolic:diastolic ratio (S/D ratio >3.0 beyond 30–34 weeks GA) indicates an increase in vascular resistance within placental circulation
      • absent diastolic flow = 50–90% mortality rate
      • reverse diastolic flow = impending fetal collapse (due to severe fetal hypoxia)
        Note: S/D ratio increases with sampling site closer to fetus + increasing fetal heart rate; S/D ratio decreases with advancing gestational age; S/D ratio may decrease in lateral recumbent position
    • Uterine artery waveform
      Method: sample volume at point of overlap of uterine artery with external iliac artery
      • S/D ratio >2.6 after 26 weeks GA
      • persistence of early diastolic notch
      Pathophysiology: lack of trophoblastic invasion of spiral arteries
      • Rules:
        • Trophoblastic invasion may not occur until 20–22 weeks GA in some patients
        • An abnormal waveform at 24 weeks GA will never become normal
        • A normal waveform will never revert to a high resistive waveform
        • Both / one uterine artery may be abnormal
  • FETAL CIRCULATION
    Pathophysiology: preferential shunting of blood to brain (“brain sparing”) in response to hypoxemia
    • Fetal middle cerebral artery (MCA)
      • Significant correlation between hypoxemia at cordocentesis and MCA pulsatility index
      • If the MCA pulsatility index is normal the fetus is unlikely to have a major adverse outcome
      P.1050

      Method: sample volume in MCA of near field 1 cm distal to its origin
      • reduction in S/D ratio 2.5 to 3.0 (normally about 6.0)
    • Renal artery waveform (RA)
      Method: sample volume in proximal renal artery on coronal image that visualizes the entire renal artery
      • increase of pulsatility index
    • Fetal aortic flow volume (no proven usefulness)
      • decrease in blood flow to <185–246 mL/kg/min
Cx: increased risk for perinatal asphyxia, meconium aspiration, electrolyte imbalance from metabolic acidosis, polycythemia
Neonatal Cx: pulmonary hemorrhage + vasoconstriction, persistent fetal circulation, intracranial hemorrhage, bowel ischemia, necrotizing enterocolitis, acute renal failure
Prognosis: 6–8-fold increase in risk for intrapartum death + neonatal death
⋄20% of all stillborn fetuses are growth retarded!
  • DDx of fetus small for gestational age (SGA):
    • Small normal fetus (80–85%)
    • Small abnormal fetus (5–10%)
    • Dysmature fetus (10–15%)
Pure Symmetric IUGR
  • = decreased–cell-number IUGR = early-insult IUGR
  • = low-profile IUGR
  • = proportionate reduction of all fetal measurements due to
    • intrinsic alteration in growth potential (usually due to chromosomal abnormalities)
    • severe nutritional deprivation overwhelming protective brain-sparing mechanism occurring prior to 26 weeks MA + persisting until delivery
  • proportionate decrease in HC and AC maintaining normal HC ÷ AC ratios
  • estimated fetal weight <10th percentile for age by middle of 2nd trimester
Mixed IUGR
  • = onset of IUGR during period of mixed hyperplasia / hypertrophy with near normal inherent fetal growth potential but decreased size + impaired function of placenta
    Sonographic Finding PPV [%] NPV [%]
    Advanced placental grade 16 94
    Elevated FL ÷ AC ratio 18–20 92–93
    Abnormal UA waveform 17–37  
    Low total intrauterine volume 21–24 92–97
    Small BPD 21–44 92–98
    Slow BPD growth rate 35 97
    Low EFW 45 99
    Oligohydramnios 55 92
    Elevated HC ÷ AC ratio 62 98
  • impaired fetal growth ± asymmetry
  • abnormal Doppler umbilical artery flow velocity (due to increased placental vascular resistance)
  • progressive oligohydramnios
Asymmetric IUGR
  • = decreased–cell-size IUGR
  • = late-onset IUGR = late-flattening IUGR (75%)
  • = disproportionate reduction of fetal measurements due to uteroplacental insufficiency with preferential shunting of blood to fetal brain occurring after 26 weeks GA
  • IUGR usually not detectable before 32–34 weeks GA (time of maximal fetal growth)!
Effective time for screening: 34 weeks MA
Routine surveillance: every 4 weeks beginning at 26 weeks MA
  • AC >2 SD below the mean for age = highly suspicious; AC >3 SD below mean for age
    • = diagnostic (AC single most effective fetal parameter for detection of asymmetric IUGR)
  • high HC ÷ AC and FL ÷ AC ratios (head size + femur length less affected)
  • fetal weight percentile useful for follow-up
  • accelerated placental maturity
  • decreased amniotic fluid volume
  • elevated umbilical artery S/D ratio
  • FL ÷ AC ratio + umbilical artery S/D ratio are the only effective techniques to screen for IUGR on a single exam with late prenatal care in 3rd trimester!
Krukenberg Tumor
  • = ovarian tumors from GI tract cancer (colon:stomach = 2:1) now including pancreatic + biliary primaries; 2% of females with gastric cancer develop Krukenberg tumor
  • Krukenberg tumors antedate the discovery of the primary lesion in up to 20%!
    Age: any age, most common in 5th–6th decade
  • in 80% bilateral hypo- / hyperechoic mass ± cystic degeneration
Limb-Body Wall Complex
Prevalence: 1:10,000 live births
Cause: ? severe form of amniotic band syndrome; ? early vascular disruption; ? embryonic dysplasia due to malformation of ectodermal placodes
  • EXTERNAL DEFECTS
    • Ventral wall anomaly
      • large eccentric defect
      Location: L:R = 3:1 (DDx: gastroschisis)
    • Craniofacial defects:
      • anencephaly, cephalocele, facial cleft
    • Limb reductions
    • Spinal defects: dysraphism, scoliosis
  • INTERNAL DEFECTS (in 95%)
    • Cardiac defects
    • Diaphragmatic absence
    • Bowel atresia
    • Renal abnormalities:
      • agenesis, hydronephrosis, dysplasia
  • persistence of extraembryonic coelom (= separation of amnion + chorion)
    P.1051

    Prognosis: invariably fatal shortly after birth
Macrosomia
  • = FETAL GROWTH ACCELERATION
  • = fetus large for gestational age (LGA) with EFW >90th percentile for age / >4,000 g at term
  • AC >3 SD above the mean for age (most reliable + largest measurement)
  • estimated fetal weight (EFW) including fetal head, abdomen, femur length >90th percentile (± 15% accuracy)
  • low FL ÷ AC ratio
  • low HC ÷ AC ratio
  • enlarged thigh circumference
  • low FL ÷ thigh circumference ratio
  • greater than expected interval growth
  • polyhydramnios
    Risk: shoulder dystocia, prolonged labor, meconium aspiration
Massive Ovarian Edema
  • = tumorlike condition with marked enlargement of one / (occasionally) both ovaries due to accumulation of edema fluid in stroma
    Age: 6–33 (average 21) years
  • Cause:
    • partial / intermittent torsion (obstruction to ovarian lymphatic + venous drainage)
    • ovarian stromal proliferation with enlargement of ovary susceptible to torsion
Histo: edematous ovarian stroma + extensive fibromatosis surrounding primordial follicles, luteinized cells
  • acute / intermittent lower abdominal pain for months
  • masculinization (in chronic phase)
  • solid / multicystic adnexal mass
  • ovarian diameter of 5–40 (mean 11.5) cm
    Rx: oophorectomy / salpingo-oophorectomy / wedge resection with ovarian suspension
Mucinous Ovarian Tumor
Incidence: 20% of all ovarian tumors; 2nd most common benign epithelial neoplasm of ovary (after serous ovarian neoplasm)
Histo: single layer of nonciliated tall columnar epithelium with clear cytoplasm of high mucin content (similar to endocervix + intestinal epithelium)
Age: middle adult life, rare before puberty + after menopause
Cx: rupture may lead to pseudomyxoma peritonei
DDx: serous ovarian tumor (smaller, unilocular)
Mucinous Cystadenoma (80%)
Prevalence: 20% of all benign ovarian neoplasms
Age: 3rd–5th decade of life
  • multilocular cyst with numerous thin septa
  • cysts frequently have high protein content:
    • low-level echoes in cysts
    • high attenuation on CT
    • hyperintense on T1WI
  • usually unilateral, bilateral in 5%
Borderline Malignant Mucinous Cystadenoma (10%)
Mucinous Cystadenocarcinoma (10%)
Histo: mucoid material in cysts, sometimes accompanied by hemorrhagic / cellular debris; difficult to differentiate from benign variety + metastasis from intestinal primary
  • multilocular with numerous smooth thin-walled cysts
  • solid tissue areas: thick septa + other soft-tissue elements within septated cyst
  • usually unilateral; bilateral in 5–10% of stage I cases
  • capsular infiltration with loss of definition + fixation
  • CT:
    • multiseptated tumor of low attenuation
    • high-attenuation proteinaceous material (20–30 HU) in some loculi
  • MR:
    • variable signal intensity in different loculi (proteinaceous / mucinous content, hemorrhage)
Nuchal Cord
= umbilical cord encircling fetal neck: single loop > two loops (2–3%) > 3 or more loops (<1%)
Incidence: 25% of pregnancies; frequently transient
Associated with: increased cord length, small fetus, vertex presentation, polyhydramnios
  • generally not of clinical significance: no difference in 5-minute Apgar score, no increase in infant mortality
  • two adjacent cross sections of cord on longitudinal view of neck (diagnosis facilitated by color Doppler flow)
  • indentation of skin by nuchal cord suggests tight loop
    Risk: signs of fetal distress (fetal bradycardia, variable decelerations, depressed 1-minute Apgar score)
  • OB management:
    • Assess fetal well-being (biophysical profile biweekly, NST, fetal growth)
    • Vaginal delivery permissible if without evidence of fetal compromise
    • Intervention only for signs of fetal distress
Omphalocele
  • = midline defect of anterior abdominal wall due to failure to form the umbilical ring during 3rd to 4th week of gestation with herniation of intraabdominal contents into base of umbilical cord
    Prevalence: 1:4,000 to 1:5,500 pregnancies
  • Cause:
    • migration failure of lateral mesodermal body folds:
      • omphalocele contains liver
    • persistence of primitive body stalk beyond 12th week MA:
      • omphalocele contains primarily bowel
        Age: earliest detection at 12 weeks menstrual age
    • High incidence of ASSOCIATED ANOMALIES (45–88%):
      • Chromosomal (10–30–58%): trisomy 13, 18, 21, Turner syndrome (13% with liver in omphalocele, 77% with bowel in omphalocele), triploidy
      • Genitourinary (40%): bladder exstrophy
        • OEIS complex = Omphalocele + bladder Exstrophy + Imperforate anus + Spinal anomalies
      • Cardiac (16–30–47%): VSD, ASD, tetralogy of Fallot, ectopia cordis in pentalogy of Cantrell, DORV
      • P.1052

      • Neural tube defects (4–39%): holoprosencephaly, encephalocele, cerebellar hypoplasia
      • IUGR (20%)
      • Beckwith-Wiedemann syndrome (5–10%)
      • GI tract:
        • intestinal atresia (vascular compromise); malrotation; abnormal fixation of liver, esophageal atresia, facial cleft, diaphragmatic hernia
      • Limb-body wall deficiency; cystic hygroma
    • MS-AFP ≥2.5 in 40–70%
    • midline central defect at base of umbilical cord insertion:
      • defect over entire ventral abdominal wall (mean size 2.5–5 cm)
      • widened cord where it joins the skin of the abdomen
    • cord inserting at apex of defect
    • herniation of abdominal viscera at base of umbilical cord:
      • liver (27%) ± stomach ± bowel
    • covering amnioperitoneal membrane (inner layer = peritoneum; outer layer = amnion); may rupture in up 15% of cases
    • hypoechoic loose mesenchymal tissue (= Wharton jelly) between layers of membrane
    • ascites within herniated sac (common)
    • polyhydramnios (occasionally oligohydramnios)
      mnemonic: OMPHALOCele
      • Other anomalies (common)
      • Membrane surrounding viscera
      • Perfectly midline
      • Heart anomalies
      • Ascites
      • Liver commonly herniated
      • O for “zero” bowel complications
      • Chromosomal abnormalities (common)
        Cx: (1) Infection, inanition
          (2) Immaturity (23%)
          (3) Rupture of hernia sac
          (4) Intestinal obstruction
        Mortality rate: 10% mortality if isolated abnormality; 80% with one / more concurrent malformations; nearly 100% with chromosomal + cardiovascular abnormalities
        DDx: (1) Gastroschisis (usually right-sided defect)
          (2) Limb-body wall complex (usually left-sided defect)
Pseudo-omphalocele
  • Deformation of fetal abdomen by transducer pressure coupled with an oblique scan orientation may give the appearance of an omphalocele
    • obtuse angle between pseudomass and fetal abdominal wall
  • Physiologic herniation of midgut into umbilical cord between 8th and 12th week of gestation
    • herniated sac never contains liver
    • herniated sac usually <7 mm
    • disappears by 12th week GA
Omphalomesenteric Duct Cyst
Etiology: persistence + dilatation of a segment of the omphalomesenteric / vitelline duct joining the embryonic midgut and the primary yolk sac, which is formed during the 3rd week and closed by the 16th week of gestation
Histo: cyst lined by columnar mucin-secreting gastrointestinal epithelium
  • M:F = 3:5
Location: usually in close proximity to fetus
  • umbilical cord cyst up to 6 cm in diameter
  • beneath amniotic surface of cord (= eccentric)
Cx: (1) Compression of umbilical vessels by expanding cyst
  (2) Erosion of umbilical vein from acid-producing gastric mucosal lining
DDx: allantoic cyst, umbilical cord hematoma
Ovarian Cancer
  • 8th leading cause of cancer in women (4% of all cancers among women); 2nd most common gynecologic malignancy; 5th leading cause of cancer deaths in women after lung, breast, colon, pancreas (leading cause of cancer deaths of all female cancers); accounts for 50% of cancer deaths of female genital tract
  • 1:70 women will develop ovarian cancer (lifetime risk)
  • 1:100 women will die of ovarian cancer
    Etiology: ovarian surface epithelium proliferates temporarily to repair defect after rupture of ovum, which may result in an “inclusion body” / “cystoma”; an error in DNA replication within inclusion body may occur resulting in inactivation / loss of a tumor-suppressor gene
    Incidence: affects 1:2,000 women; 50 cases per year per 100,000 women (33 cases per year per 100,000 women > age 50); 26,700 new cases + 14,500 deaths in 1996
    Age: increasing with age; peaking at 55–59 years (80% of cases in women >50 years)
  • Histo:
    • The proportion of malignant tumors increases with age:
      <20 years of age 4%
      >50 years of age 40%
    • MALIGNANT EPITHELIAL TUMORS (85%)
      • = arising from surface epithelium / mesothelium
        Age peak: 6th–7th decade; rare before puberty
        • serous tumor resembling ciliated columnar cells of the fallopian tubes (60–80%)
        • mucinous tumor similar to endocervical canal epithelium (15%)
        • endometrioid tumor similar to endometrial adenocarcinoma (8–15%)
        • clear cell carcinoma = mesonephroid tumor (5%)
        • undifferentiated tumor (4%) = cellular dedifferentiation does not allow categorization
        • Brenner tumor (2.5%)
    • MALIGNANT GERM CELL TUMORS (7%)
      Frequency: 2/3 of ovarian malignancies in females <20 years of age
      Age: 4–27 years
      • mature teratoma (10%) = the only benign variety
      • dysgerminoma (1.9%)
      • immature teratoma (1.3%)
      • endodermal sinus tumor (1%)
      • malignant mixed germ cell tumor (0.7%)
      • choriocarcinoma (0.1%)
      • P.1053

      • embryonal carcinoma (0.1%)
    • METASTASES (5–10%)
    • SEX CORD STROMAL TUMORS (7%)
      Size versus risk of malignancy: <5 cm in 3%
        5–10 cm in 10%
        >10 cm in 65%
  • Epidemiology:
    • sporadic: “ovulation hypothesis” = risk of ovarian cancer is a direct function of the number of ovulatory cycles during a woman’s life span
    • hereditary (1–5%) = defined as ovarian cancer occurring in at least two 1st-degree relatives
      • 50% lifetime probability to develop ovarian cancer
        • breast cancer-ovarian cancer syndrome
        • ovarian cancer only syndrome
        • Lynch type II cancer family syndrome
          • = inheritance of nonpolyposis colorectal cancer, endometrial cancer and (rarer) ovarian cancer
  • Increased risk:
    • nulliparity, early menarche, late menopause, Caucasian race, higher socioeconomic group, positive family history for ovarian cancer (risk factor of 3 with one close relative, risk factor of 30 with two close relatives affected with ovarian cancer), history of breast cancer (risk factor of 2) / early colorectal cancer (risk factor of 3.5
  • Decreased risk = protective effect:
    • multiparity, use of oral contraceptives, breast-feeding
  • Staging laparotomy:
    • = abdominal hysterectomy + bilateral salpingo-oophorectomy + omentectomy + random peritoneal biopsy + lymph node biopsy
  • Spread:
    • direct extension through subperitoneal space (sigmoid mesocolon on left, cecum + distal ileum on right), uterus, fallopian tubes, broad ligament
    • intraperitoneal implantation = exfoliation of tumor cells from ovarian capsule into peritoneal space (often microscopic)
      • with frequent seeding to:
        • posterior cul-de-sac in pouch of Douglas
        • infundibulopelvic ligaments
        • omentum
        • superior aspect of sigmoid
        • right paracolic gutter
        • termination of small bowel mesentery
        • undersurface of right hemidiaphragm
          Type Benign Borderline Malignant
          [all types combined] [75%] [4%] [21%]
          Serous 60% 15% 25%
          Mucinous 80% 10% 10%
          Endometrioid ~0% ~0% ~100%
          Clear cell ~0% ~0% ~100%
          Undifferentiated 0% 0% 100%
        • with less frequent seeding to:
          • Morison pouch
          • liver surface
          • porta hepatis
          • intrahepatic fissure
      • lymphatic spread
        • craniad parallel to gonadal veins in infundibulo-pelvic ligament terminating at level of renal vessels
        • laterally through broad ligament terminating at pelvic side wall: external iliac, obturator, hypogastric chains
        • lymph node short-axis diameter of >1 cm (in 88% positive for ovarian cancer)
        • hydronephrosis (2nd most common form of tumor-related morbidity after bowel obstruction)
        • thoracic adenopathy (paracardiac lymph nodes >5 mm in 28% of stage II/III disease + in 29% mediastinal lymphadenopathy at autopsy)
      • hematogenous dissemination (% at autopsy):
        • liver (45–48%), lung (34–39%), adrenal gland (15–21%), pancreas (11–21%), spleen (15–20%), bone (11%), kidney (7–10%), skin (5%), brain (3–6%)
        • malignant pleural effusion (pleural metastases in 28–60%, lung parenchymal metastases in 7%, pericardial metastases in 5%)
    • often “silent” without obvious signs / symptoms
    • occasional pelvic-abdominal pain
    • constipation, urinary frequency
    • early satiety
    • ascites
    • paraneoplastic hypercalcemia
    • elevated CA-125 levels (= cancer-associated marker = high-molecular-weight glycoprotein with normal level of <35 units/mL):
      • >35 U/mL in 29–50% of stage I disease
      • >65 U/mL in 21% of stage I disease
        Stage (FIGO system) based on staging laparotomy
        I Limited to ovary
           I a limited to one ovary
           I b limited to both ovaries
           I c + positive peritoneal lavage / ascites
        II Limited to pelvis
           II a involvement of uterus / fallopian tubes
           II b extension to other pelvic tissues
           II c + positive peritoneal lavage / ascites
        III Limited to abdomen = intraabdominal extension outside pelvis / retroperitoneal or inguinal nodes / extension to small bowel / omentum
           III a microscopic abdominal peritoneal seeding
           III b ≥2 cm implants of abdominal peritoneum
           III c >2 cm implants of abdominal peritoneum
        IV Hematogenous disease (liver parenchyma) / spread beyond abdomen
        50–70–75% of patients have stage III / IV disease at time of diagnosis!
        P.1054

        • CA-125 levels elevated in 80% of ovarian cancers (60% of mucinous + 20% of nonmucinous tumors) and in 40% of patients with advanced intraabdominal nonovarian malignancy!
        • CA-125 levels elevated in 30% of benign processes (in 1% of healthy individuals, fibroid, first-trimester pregnancy, menstruation, endometriosis, PID, benign ovarian tumors, liver cirrhosis, pancreatitis)!
    • Limitations of imaging:
      • Microscopic peritoneal disease not detectable!
    • Benefit of imaging:
      • Second-look surgery can be avoided if there is evidence for residual / recurrent tumor!
    • US:
      • Screening finds adnexal cysts in 1–15% of postmenopausal women; only 3% of ovarian cysts <5 cm are malignant!
      • @ Morphologic tumor criteria (85–97% sensitive, 56–95% specific, 99% NPV):
        • thick irregular walls and thick septations (DDx: endometrioma, abscess, peritoneal cyst, cystadenofibroma, mucinous cystadenoma)
        • papillary projections ≥3 mm (in 67%, 38%, 9% of borderline, malignant, benign neoplasm)
        • solid / moderately echogenic loculi
        • postmenopausal ovarian volume >9 cm3
      • @ Doppler tumor criteria (50–100% sensitive, 46–100% specific, 49% PPV; more sensitive + specific in postmenopausal women):
        • presence of color flow (in 93% of malignant + 35% of benign tumors) usually within thick wall, septa, papillary projections, solid inhomogeneous areas
        • low-resistance Doppler waveform (due to lack of muscular layer of arterial wall + presence of arteriovenous shunts in neoplasms):
          • RI <0.40, PI <1.0 (37–47% PPV)
          • false positive: physiologic alteration of ovarian blood flow during menstrual cycle, benign tumor, acute inflammatory disease, endometriosis
      • @ Metastatic disease
        • omental / peritoneal masses (“omental cake”)
        • pseudomyxoma peritonei (with tumor rupture)
        • liver metastases
        • ascites
    • CT (70–90% preoperative staging accuracy):
      • @ Primary tumor:
        • lesion diameter >4 cm
        • enhancing papillary projections
        • septa and walls >3 mm thick
        • partially solid, partially cystic mass
        • lobulated solid mass
        • tumor vessels on contrast-enhanced images
      • @ Local extension:
        • localized distortion of uterine contour
        • irregular interface between tumor and myometrium
        • loss of tissue plane between tumor and wall of sigmoid colon / bladder
        • encasement of sigmoid colon
        • tumor distance from pelvic side wall <3 mm
        • iliac vessels surrounded / displaced by tumor
      • @ Secondary findings:
        • ascites:
          • often lesser sac ascites with displacement of fundus and posterior wall of stomach anteriorly (DDx to benign ascites) + gastrosplenic ligament laterally
          • loculated ascites due to adhesions
        • >10-mm nodular / plaquelike peritoneal implants:
          • indentation of hepatic / splenic surface
          • ± calcifications
        • lymphadenopathy, may be calcified
        • omental implants:
          • small nodules / strands of hyperdense soft tissue increasing the attenuation of omental fat / marked omental thickening (“omental cake”)
          • fat plane obscured between anterior abdominal wall + intestinal wall
        • mesenteric deposits:
          • round / irregular ill-defined masses / stellate lesions of small bowel mesentery
          • tethering of small bowel loops
        • invasion of bowel:
          • bowel obstruction (most common form of ovarian-cancer associated morbidity)
          • nodular / plaquelike lesions along / projecting from peritoneal surfaces
          • bowel wall thickening
        • pseudomyxoma peritonei
    • MR (combines best features of US and CT)
    • BE:
      • serosal spiculation / tethering
      • annular constriction / complete obstruction
    • Rx:
      stage I: total abdominal hysterectomy (TAH) + bilateral salpingo-oophorectomy (BSO) ± melphalan / intraperitoneal P-32
      stage >I: TAH-BSO + surgical cytoreduction (debulking) + 6 cycles of chemotherapy (cyclophosphamide + cisplatin)
    • Prognosis (without change in past 60 years):
      • 46% overall 5-year survival rate, 5–8% for stage IV, 14–30% for stage III, 50% for stage II, 80–90% for stage I
        DDx: tuboovarian abscess, dermoid cyst, endometrioma
Ovarian Cyst
Functional / Retention Cyst
  • Cause:
    • failure of involution of follicle / corpus luteum with changes in the menstrual cycle
    • excessive hormonal stimulation of follicles preventing normal follicular regression (eg, theca-lutein cysts)
      Prognosis: spontaneous regression is common but unpredictable; typically resolve within 2 menstrual cycles (less likely if cyst >5 cm)
      Cx: torsion
      Rx: (1) Hormonal manipulation
        (2) Surgery (absolutely indicated if cyst enlarges)
        (3) Percutaneous aspiration (if chance of malignancy is nil as in infants)
      DDx: cystic teratoma, simple benign epithelial neoplasm, endometrioma in resolution, paraovarian cyst, quiescent hydrosalpinx
P.1055

Follicular Cyst (from preovulatory follicle)
  • Cause:
    • unruptured Graafian follicle from failure to ovulate
    • Graafian follicle with failure to regress / involute
    • ruptured Graafian follicle that sealed immediately (after continued stimulation)
  • may elaborate estrogen, extremely common
  • sign of anovulatory cycle
Predisposed: patients during puberty + menopause; S/P salpingectomy
  • thin-walled, unilocular cyst
  • size usually >2.5 cm / occasionally up to 10 cm
  • usually multiple / may be single
  • low-level internal echoes / fluid-debris level / septations / predominantly hyperechoic
    • = hemorrhagic cyst (DDx: teratoma, abscess, torsion, malignancy, ectopic pregnancy)
Prognosis: usually disappears after 1–2 menstrual cycles
Corpus Luteum Cyst (from postovulatory follicle)
  • = hemorrhage into mature corpus luteum
  • Types:
    • Corpus luteum of menstruation
      • = formed after rupture of follicle + increasing in size until 22nd day of menstrual cycle
      • usually >12–17 mm in size
      • elaborates progesterone causing delayed menstruation / persistent bleeding
        Prognosis: resolves within 1–2 menstrual cycles
    • Corpus luteum of pregnancy
      • = caused by hCG stimulation during pregnancy
      • may be temporarily painful
      • usual size 30–40 mm, may grow up to 15 cm in diameter
        • Excessively large cysts with thin wall suggest poor function (= low progesterone levels)
      • reaches maximum size after 8–10 weeks
      • occurs on same side as ectopics in 85%
    Prognosis: resolves by 12–16 weeks, occasionally persists past 1st trimester
    • high diastolic flow component
    • thin-walled usually unilateral cyst
    • echogenic (organized clot) / sonolucent (resorbed blood)
    • low-level internal echoes frequent (= hemorrhage)
    • Cx:
      • Enlarging hemorrhagic corpus luteum with
        • severe pelvic adhesions preventing ovulation of luteinized follicles
        • NSAIDs which may cause luteinized unruptured follicle syndrome
        • excessive anticoagulation
        • endometriosis
      • Rupture with intraperitoneal life-threatening hemorrhage at ovulation
        DDx: endometrioma, ovarian tumor, organized clot in any enclosed space
Corpus Albicans Cyst
= from corpus luteum following regression of luteal tissue; no hormone production
Theca Lutein Cyst
= multiple bilateral corpus luteum cysts
  • in hyperstimulated ovary from ovary-stimulating drugs, twins, trophoblastic disease
  • elaborates estrogen
Surface Epithelial Inclusion Cyst
  • common in postmenopausal women
    Age: any; in newborns (influence of maternal estrogen)
    Incidence: 3–5–17% in postmenopausal women
  • usually asymptomatic
  • acute unilateral pelvic pain (from hemorrhage / pressure)
  • up to 8–10 cm in diameter
Imaging Classification of Ovarian Cyst
  • SIMPLE CYST
    • unilocular smooth-walled cyst + thin sharply defined wall of <3 mm
    • contents anechoic = NO internal septations / mural nodules
    • posterior acoustic enhancement
    • Doppler flow in cyst wall (detected in 19–61%) with pulsatility index >1.0 / RI >0.4 (unreliable!)
    • isointense to urine on T1WI + T2WI
      DDx: serous cystadenoma
  • HEMORRHAGIC CYST
    • = functional cysts that developed internal hemorrhage
    • US:
      • echogenic mass (= solid clot)
      • whirled pattern of mixed echogenicity
      • “ground-glass” pattern = diffuse low-level echoes
      • “fishnet weave” pattern = fine interdigitating septations / lacelike reticular echoes
      • NO color Doppler signals inside cyst
    • MR:
      • intermediate / high intensity on T1WI
      • intermediate / high intensity with distinct central area of hypointensity on T2WI
        Cx: rupture into intraperitoneal space
  • COMPLEX CYST
    • = does not satisfy criteria for hemorrhagic cysts / endometrioma
    • internal septations / mural nodules / internal echoes
    • mixed signal intensity, hyperintense on T2WI
Management of Ovarian Cyst
  • NEONATAL
    • change in position between exams suggests pedunculation with potential for torsion
    • fluid debris level / low-level echoes / retracting clot suggest torsion
  • PREMENOPAUSAL
    • Unilocular cyst ≥2.5 cm ± hemorrhage
      Rx: no follow-up unless on birth control pills
    • Unilocular thin-walled cyst 2.5–6 cm without hemorrhage
      P.1056

      Rx: clinical / sonographic follow-up in 1–2 months ± addition of hormones
    • Unilocular cyst 2.5–6 cm with hemorrhage
      Rx: sonographic follow-up in 1 month ± addition of hormones
    • Unilocular cyst >6 cm
      Rx: surgery
      N.B.: All follow-up scans should take place in the immediate postmenstrual period, when follicular cysts should not be present!
  • POSTMENOPAUSAL
    • Screening of 1,300 symptomatic women:
      • — in 2.5% abnormalities on US
      • — in 1.9% benign ovarian tumors
      • — in 0.15% ovarian cancers
    • Unilocular nonseptated thin-walled cyst <3 cm
      Incidence: 15–17%
      • high resistive index (RI) of >0.7 (resistive index <0.40 is suspect for malignancy!)
        Prognosis: 56% decrease in size / disappear; 28% remain unchanged for up to 2 years
        DDx: serous ovarian cyst, peritubal cyst, hydrosalpinx
        Rx: serial follow-up
    • Septated cyst / cyst >3 cm / cyst with low RI
      • 18% of complex cysts are malignant!
        Rx: CA-125 determination + surgical exploration
Ovarian Fibroma
Incidence: 3–4% of all ovarian tumors; bilateral in <10%
  ⋄ Most common of the sex cord-stromal tumors!
Age: primarily >40 years
Path: solid firm white mass
Histo: pure mesenchymal tumor consisting of intersecting whorled bundles of spindle-shaped fibroblasts + collagen; varying degrees of edema often separate cells
Association: fibromas occur in 17% of patients with the basal cell nevus syndrome (Gorlin) syndrome (commonly bilateral calcified tumors + mean age of 30 years)
  • usually asymptomatic (pure fibromas are not estrogenic, admixture of theca cells causes estrogenic effect)
  • Meigs syndrome (in only 1%):
    • ascites (in 10–40% of tumors >10 cm)
    • pleural effusion (rare)
    • ascites + pleural effusion resolve after removal of tumor
      Location: bilateral in 4–8%
  • ± cystic degeneration and edema in larger lesions
  • US:
    • solid hypoechoic mass with marked sound attenuation
    • occasionally hyperechoic / with increased through-transmission
  • MR:
    • well-circumscribed low-signal-intensity mass on T1WI + T2WI less than or equal to myometrium due to abundant collagen content (FAIRLY DIAGNOSTIC)
    • scattered high-signal-intensity areas (edema / cystic degeneration)
  • CT:
    • well-defined solid homogeneous / slightly heterogeneous slightly hypoattenuating mass
    • poor delayed contrast enhancement
      DDx: pedunculated uterine leiomyoma, Brenner tumor, adenofibroma, malignant ovarian neoplasm
Ovarian Hyperstimulation Syndrome
Incidence: severe OHSS in 1.5–6% under Pergonal® therapy
  • Etiology:
    • Induced by hCG therapy with human menopausal gonadotropin (Pergonal®), occasionally with clomiphene (Clomid®)
    • Hydatidiform mole
    • Chorioepithelioma
    • Multiple pregnancies
Path: enlarged ovaries with multiple follicular + theca lutein cysts, edematous stroma (fluid shift secondary to increased capillary permeability)
  • abdominal pain (100%) + distension (100%)
  • nausea (100%), vomiting (36%)
  • acute abdomen (17%)
  • dyspnea (16%)
  • thrombophlebitis (11%)
  • marked hemoconcentration
  • fainting (11%)
  • blurred vision (5%)
  • anasarca (5%)
  • hydrothorax
  • enhanced fertility
  • ovary >5 cm in longest dimension containing large geometrically packed follicles
  • ovarian cyst >10 cm (100%): usually disappear after 20–40 days; may persist for 12–16 weeks during pregnancy
  • ascites (33%)
  • pleural effusion (5%)
  • hydroureter (11%)
    Cx: (related to volume depletion)
      (1) Hypovolemia + hemoconcentration
      (2) Oliguria, electrolyte imbalance, azotemia
      (3) Death from intraabdominal hemorrhage / thromboembolic event
Ovarian Vein Thrombosis
  • Etiology:
    • Bacterial seeding from puerperal endometritis with secondary thrombosis (pregnancy + puerperium are hypercoagulable states) = puerperal ovarian vein thrombophlebitis
    • Pelvic inflammatory disease
    • Gynecologic surgery
    • Malignant tumors
    • Chemotherapy
Incidence: 1:600–1:2,000 deliveries
  • presents on 2nd / 3rd postpartum day
  • lower abdominal / flank pain (>90%)
  • palpable ropelike tender abdominal mass (50%)
  • fever if diagnosis delayed
Location: right ovarian vein (80%), bilateral (14%), left ovarian vein (6%)
P.1057

  • CT:
    • tubular structure in location of ovarian vein with low-density center + peripheral enhancement
Cx: IVC thrombosis; pulmonary embolism (25%); septicemia; metastatic abscess formation
Mortality: 5%
Rx: IV antibiotics + heparin; ligation of involved vessel at most proximal point of thrombosis after failure to improve after 3–5 days
DDx: appendicitis, broad-ligament phlegmon / hematoma, torsion of ovarian cyst, urolithiasis, pyelonephritis, degenerated pedunculated leiomyoma, pelvic cellulitis, pelvic / abdominal abscess
Paraovarian Cyst
= vestigial remnant of wolffian duct in mesosalpinx
Frequency: 10% of all pelvic masses
  • Embryology:
    • wolffian body (= mesonephros) consists of
      • mesonephric duct (= wolffian duct) in female degenerates into vestigial structures of epithelial-lined cysts (= canals / duct of Gartner)
        Location: at lateral edge of uterus and vagina extending from broad ligament to vestibule of vagina
      • mesonephric tubules in female degenerate into vestigial structures of
        • Epoöphoron (at lateral part of fallopian tube)
        • Paroöphoron: (at medial part of fallopian tube)
          Location: between the tube and hilum of the ovary within the two peritoneal layers of broad ligament
  • Gartner duct cyst:
    • inclusion cyst lateral to vagina + uterine wall
  • Paroöphoron:
    • medial location between tube + hilum of ovary
  • Epoöphoron:
    • lateral location between tube + hilum of ovary
  • Hydatids of Morgagni (= appendices vesiculosae): most lateral + outer end of Gartner duct
    • ≥1 vesicle(s) attached to fringes of tube + filled with clear serous fluid
  • thin-walled unilocular cyst, up to 18 cm in diameter
  • may arise out of pelvis (if pedunculated + mobile)
  • ± low-level internal echoes (from hemorrhage)
    DDx: functional cyst, cystic teratoma, benign epithelial neoplasm
Paraovarian Cystadenoma
May be associated with: von Hippel-Lindau disease
Location: typically unilateral
  • simple cyst
  • one / more small nodules along a smooth inner wall (86%)
  • ± septations
    Cx: malignant degeneration in 2–3%
    DDx: (1) Hydrosalpinx (tubular shape, folds / short echogenic lines protruding into lumen)
      (2) Peritoneal inclusion cyst (surrounding much of the ovary, history of surgery / PID)
      (3) Cystic neoplasm of fallopian tube (more solid components)
      (4) Paraovarian cyst with blood clot (resolution of clot on follow-up sonogram)
      (5) Exophytic complex ovarian mass
Pelvic Inflammatory Disease
  • = PID
  • = acute clinical syndrome associated with ascending spread of microorganisms (“canalicular spread”) from vagina / cervix to uterus, fallopian tubes, and adjacent pelvic structures, not related to surgery / pregnancy
    Incidence: 10% of women in reproductive age (17% in Blacks); 1 million American women/year
    Risk factors: early age at sexual debut, multiple sexual partners, history of sexual transmitted disease, douching
    Predisposed: formerly married > married > never married; intrauterine contraceptive device (1.5–4-fold increase in risk)
    Etiology: (a) bilateral: venereal disease, IUD, S/P abortion
      (b) unilateral = nongynecologic: rupture of appendix, diverticulum, S/P pelvic surgery
  • Organism:
    • Chlamydia trachomatis + Neisseria gonorrhoeae (>50% with high prevalence of coinfection) damage protective barrier of endocervical canal with spread to tubes (30–50%) producing fibrosis + adhesions
    • Aerobes: Streptococcus, Escherichia coli, Haemophilus influenzae
    • Anaerobes: Bacteroides, Peptostreptococcus, Peptococcus
    • Mycobacterium tuberculosis (hematogenous)
    • Actinomycosis in IUD users
      • = chronic suppurative infection characterized by multiple abscesses, abundant granulation tissue, fibrosis
    • Herpesvirus hominis type 2, Mycoplasma
May be associated with: Fitz-Hugh-Curtis syndrome (= gonorrheal perihepatitis)
  • usually bilateral lower abdominal pain (due to peritoneal irritation)
  • abnormal vaginal discharge / uterine bleeding
  • dysuria, dyspareunia, nausea, vomiting
  • lower abdominal + adnexal + cervical motion tenderness
  • fever, leukocytosis, elevated ESR
  • elevated blood level of C-reactive protein
  • MR:
    • ill-defined hyperintense area on fat-suppressed T2WI + intense enhancement on contrast-enhanced fat-suppressed MR (= extent of inflammation)
      Dx: clinically, laparoscopically
        ⋄ Imaging employed only to differentiate between medical + surgical condition!
      Cx: (1) Infertility due to tubal occlusion (25%): 8% after single episode, 20% after 2 episodes, 40% after ≥3 episodes of PID
        (2) Ectopic pregnancy (6 × as frequent)
        (3) Chronic pelvic pain (from pelvic adhesions)
      Prognosis: infertility, ectopic pregnancy, chronic pelvic pain
      DDx: acute appendicitis, endometriosis, hematoma of corpus luteum, ectopic pregnancy, paraovarian cyst
P.1058

Endometritis
  • endometrial prominence
  • small amount of fluid within uterine lumen
  • gas reflection within uterine cavity (most specific)
  • pain over uterus
Postpartum Endometritis
Incidence: 2–3% of vaginal deliveries; up to 85% of cesarean sections
Associated with: prolonged labor, premature rupture of membranes, retained clots, retained products of conception
  • fever (most common cause of postpartum fever)
  • normal ultrasound
  • thickened heterogeneous endometrium
  • intracavitary fluid
  • intrauterine air
Salpingitis
  • NOT depicted by imaging techniques
  • often beginning during / immediately after menstruation (due to less effective barrier of mucus at cervix)
  • MR:
    • thickened wall of dilated fallopian tube + tubal contents of low signal intensity on T2WI
    • debris / hemorrhage in fluid component most conspicuously hypointense to urine on heavily T2WI
Salpingitis Isthmica Nodosa
Etiology: unknown; commonly associated with pelvic inflammatory disease, infertility, ectopic pregnancy
Location: uni- / bilateral
  • nodular thickening of isthmic portion of tube
  • irregularity + multiple diverticula / obstruction of isthmic portion of fallopian tube on HSG
Hydro- / hemato- / pyosalpinx
  • = continued secretion of tubal epithelium into lumen of a fallopian tube obstructed at two sites
    Cause: infection, endometriosis, adhesions, microtubal surgery, ectopic pregnancy
    Location: ampullary / infundibular portion of tube
  • undulating / folded tubular structure in extraovarian location filled with sterile fluid / debris / pus
  • short linear echoes protruding into lumen (= tall ramified mucosal plicae)
  • longitudinal folds in ampullary portion
  • US (sensitivity of 34%):
    • thickened fluid-filled tubes
  • HSG:
    • absence of peritoneal spill
    • dilated ampullary portion of tube (visualization of mucosal folds confirm intratubal contrast accumulation) (DDx: contrast collection adjacent to tubes due to peritubal adhesions)
  • MR:
    • high-signal intensity of fluid on T1WI due to hematosalpinx
    • well-enhancing wall, thicker than in hydrosalpinx
  • Cx: tubal torsion
Chlamydia 33% Human papillomavirus (warts) 6.0%
Trichomoniasis 25% Genital herpes simplex 4.0%
Nonspecific urethritis 10% Hepatitis B virus 1.2%
Gonorrhea 9% Syphilis 1.0%
Mucopurulent cervicitis 8% HIV 0.3%
DDx: dilated uterine / ovarian vein, TOA, neoplasm, endometrioma, developing follicle
Tuboovarian abscess (TOA)
Cause: sexually transmitted disease, IUD (20%), diverticulitis, appendicitis, pelvic surgery, gynecologic malignancy
Organism: anaerobic bacteria become dominant
Location: usually in posterior cul-de-sac extending bilaterally
  • multilocular complex mass often with debris, septations, irregular thick wall
  • may contain fluid-fluid levels or gas
  • intense contrast enhancement of abscess wall
    DDx: endometrioma, ovarian tumor, infected cyst, abscess from other sources (eg, Crohn disease, appendicitis)
Pena-Shokeir Phenotype
= autosomal recessive syndrome (45% sporadic, 55% familial) characterized by fetal akinesia
Cause: decreased / absent fetal motion secondary to abnormalities of fetal muscle / nerves / connective tissue (“fetal akinesia deformation sequence”)
Time of first detection: 16–18 weeks MA
@ Spine: scoliosis, kyphosis, lordosis
@ Thorax: pulmonary hypoplasia, cardiac anomalies
@ Kidney: renal dysplasia
@ Limbs: limited movement, knee + hip ankylosis (arthrogryposis), abnormal shape + position, demineralization, camptodactyly, clubfeet
  • craniofacial anomalies
  • polyhydramnios
  • IUGR
  • short umbilical cord
    Prognosis: still birth
    DDx: multiple pterygium syndrome, Neu-Laxova syndrome, restrictive dermopathy, Larsen syndrome, trisomies 13 + 18
Pentalogy of Cantrell
= sporadic very rare abnormality
Cause: failure of lateral body folds to fuse in the thoracic region with variable extension inferiorly
  • Omphalocele + defect of lower sternum
  • Ectopia cordis
  • Deficiency of anterior diaphragm (herniation of intraabdominal organs into thoracic cavity is rare)
  • Deficiency of diaphragmatic pericardium
  • Cardiovascular malformation: atrioventricular septal defect (50%), VSD (18%), tetralogy of Fallot (11%)
Associated with: trisomies
  • exteriorization of heart
    Prognosis: death within a few days after birth
P.1059

Peritoneal Inclusion Cyst
  • = PERITONEAL PSEUDOCYST = ENTRAPPED OVARIAN CYST
    Cause: from previous abdominal surgery (time delay of 6 months to 20 years) / trauma / pelvic inflammatory disease / endometriosis
    Pathogenesis: extensive pelvic adhesions result in impaired peritoneal clearing of fluid normally produced by an active ovary
    Path: cyst adherent to surface of ovary
    Histo: cyst lined by hyperplastic mesothelial cells + fibroglandular tissue with chronic inflammation
  • single / multiloculated cyst contiguous with ovary
    Cx: infertility
    Rx: surgery (30–50% risk of recurrence)
    DDx: paraovarian cyst (ovoid cyst outside ovary), hydrosalpinx (visible folds, located outside ovary), ovarian neoplasm, lymphangioma
Perlman Syndrome
= rare fetal overgrowth disorder characterized by visceromegaly, renal lesions, distinctive facial features, high neonatal mortality
Cause: ? autosomal recessive with reported abnormalities of chromosome 11
  • generalized muscle hypotonia
  • pancreatic islet cell hyperplasia
  • hypertrophy of islets of Langerhans
  • cystic hygroma
  • fetal macrosomia
  • macrocephaly
  • agenesis of corpus callosum
  • choroid plexus cyst
  • nephromegaly + hydronephrosis
  • hepatomegaly
  • cryptorchidism
  • polyhydramnios
    Prognosis: death within first few days of life
Placental Abruption
  • = PLACENTAL HEMORRHAGE
  • = premature separation of placenta from the myometrium secondary to maternal hemorrhage into decidua basalis between 20th week and birth
    Incidence: 0.5–1.3% of gestations
    Risk factors: mnemonic: VASCULAR
      Vascular disease + hypertension
      Abruption (previous history)
      Smoking
      Cocaine
      Unknown (idiopathic)
      Leiomyoma
      Anomaly (fetal malformation)
      Reckless driving (trauma)
    Associated with: intraplacental infarction / hematoma
  • vaginal bleeding (80%): bright red (acute), brownish red (chronic)
  • abdominal pain (50%)
  • consumptive coagulopathy = DIC (30%)
  • uterine rigidity (15%)
  • Echogenicity of hemorrhage:
    • hyperechoic / isoechoic hematoma (initially difficult to distinguish from placenta):
      • abnormally thick + heterogeneous placenta (if blood isoechoic)
    • hypoechoic / complex collection between uterine wall + placenta in 50% within 1 week (hematoma / placental infarction)
    • anechoic collection within 2 weeks
  • A normal ultrasound does not rule out abruption if
    • separation occurs WITHOUT hematoma
    • hematoma isoechoic to placenta
  • Prognosis:
    • Only large hematomas (occupying >30–40% of the maternal surface) result in fetal hypoxia
    • Abruptions with contained hematoma have worse prognosis
    • Responsible for up to 15–25% of all perinatal deaths
    • Normal term deliveries in 27% of hematomas detected >20 weeks GA
    • Normal delivery in 80% of intrauterine hematomas detected <20 weeks GA
Cx: (1) Perinatal mortality (20–60%), up to 15–25% of all perinatal deaths
  (2) Fetal distress / demise (15–27%)
  (3) Premature labor + premature delivery (23–52%) (3-fold increase)
  (4) Threatened abortion during first 20 weeks
  (5) Infant small-for-gestational age (6–7%)
DDx: (1) Normal draining basal veins
  (2) Normal uterine tissue
  (3) Retroplacental myoma
  (4) Focal contraction
  (5) Chorioangioma
  (6) Coexistent mole
Retroplacental Hemorrhage (16%)
  • = ABRUPTIO PLACENTAE
  • = accumulation of blood beneath placenta
    Pathophysiology: high-pressure bleed due to rupture of spiral arteries; hemorrhage may dissect into placenta / myometrium; associated with hypertension + vascular disease
    Incidence: 4.5%; 16% of all placental abruptions
  • external bleeding
  • thickened heterogeneous appearing placenta (hematoma of similar echogenicity as placenta)
  • rounded placental margins + intraplacental sonolucencies
Cx: (1) Precipitous delivery
  (2) Coagulopathy
  (3) Fetal demise (accounts for 15–25% of all perinatal deaths); risk for fetal demise with hematomas >60 mL: 6% before 20 weeks GA; 29% after 20 weeks GA
Subchorionic Hemorrhage (79%)
  • = MARGINAL PLACENTAL HEMORRHAGE
  • = submembranous PLACENTAL HEMORRHAGE
  • P.1060

  • = separation of chorionic membrane from decidua with accumulation of blood in subchorionic space (placental membranes are more easily stripped from myometrium than from placenta)
    Pathophysiology: low-pressure bleed due to tears of marginal veins; associated with cigarette smoking
    Incidence: 79% of all placental abruptions; in 91% before 20 weeks MA
  • may lead to vaginal hemorrhage after dissection through decidua (18% of all causes of 1st-trimester bleeding)
  • placental margin detached from adjacent myometrium (60%):
    • separation / rounding of placental margin
    • elevation of chorioamnionic membrane
      • (DDx: incomplete chorioamnionic fusion during 2nd trimester, blighted twin)
  • hematoma contiguous with placental margin (100%)
  • predominant hemorrhage often separate from placenta, even on opposite side of placenta
    Prognosis: worsens with (1) increased maternal age, (2) earlier gestational age, (3) size of hematoma; 9% overall miscarriage rate; risk of fetal demise doubles once hematoma reaches 2/3 of circumference of chorion
Preplacental Hemorrhage
  • = BREUS MOLE = SUBCHORIAL HEMORRHAGE
  • = variant of placental abruption with progressive slow intracotyledonary bleeding
    Incidence: in 4% of all placental abruptions
    Etiology: massive pooling + stasis due to extensive venous obstruction
    Time of onset: 18 weeks MA
  • total loss of normal placental architecture
  • gelatinous character of placenta elicited by fetal movement / abdominal jostling
  • severe symmetric IUGR
    Risk for fetal demise: 67% overall; 100% for hematomas >60 mL
Placenta Accreta
  • = underdeveloped decidualization with chorionic villi growing into myometrium
    Incidence: 1:2,500–7,000 deliveries; in 5% of placenta previa patients
  • Risk of placenta accreta vs. cesarean section:
    • in 10% of placenta previa; in 24% of placenta previa + 1 cesarean section; in 48% of placenta previa + 2 cesarean sections; in 67% of placenta previa + 4 cesarean sections
      Predisposed: areas of uterine scarring with deficient decidua: previous dilatation + curettage, endometritis, submucosal leiomyoma, Asherman syndrome, manual removal of placenta, adenomyosis, increasing parity
      Associated with: placenta previa (20%)
  • Types:
    • PLACENTA ACCRETA (76%)
      • = chorionic villi in direct contact with myometrium
    • PLACENTA increta (18%)
      • = villi invade myometrium
    • PLACENTA percreta (6%)
      • = villi penetrate through uterine serosa
  • US (78–86% sensitive, 92–94% specific):
    • thinning to <1 mm / absence of hypoechoic myometrial zone between placenta + echodense uterine serosa / posterior bladder wall (retroplacental hypoechoic zone of decidua + myometrium + dilated periuterine venous channels measures 9.5 mm thick >18 weeks GA)
    • thinning / irregularity / focal disruption of linear hyperechoic boundary echo (= uterine serosa-bladder wall interface)
    • focal masslike elevations / extensions of echogenic placental tissue beyond uterine serosa
    • >6 irregular intraplacental lacunae (= vascular spaces)
  • MR:
    • heterogeneous hyperintense placenta on T2WI
    • interruption of junctional zone
    • focal thinning of myometrium
Cx: (1) Retention of placental tissue
  (2) Life-threatening hemorrhage in 3rd stage of labor necessitating emergent hysterectomy
  (3) Persistent postpartum bleeding
  (4) Maternal death
Rx: (1) Hysterectomy
  (2) Conservative measures: curettage, oversewing of placental bed, ligation of uterine arteries
Placenta extrachorialis
= chorionic plate smaller than basal plate; ie, the transition of membranous to villous chorion occurs at a distance from the placental edge that is smaller than the basal plate radius
Circummarginate Placenta
Incidence: up to 20% of placentas
  • No clinical significance
  • placental margin not deformed
Circumvallate Placenta
  • = attachment of fetal membranes form a folded thickened ring with underlying fibrin + often hemorrhage
    Incidence: 1–2% of pregnancies
    Cx: premature labor, threatened abortion, increased perinatal mortality, marginal hemorrhage
Placenta Membranacea
= presence of well-vascularized placental villi in the peripheral membranes
Cause: ? endometritis, endometrial hyperplasia, extensive vascularization of decidua capsularis, previous endometrial damage by curettage
  • repeated vaginal bleeding extending into 2nd trimester + abortion at 20–30 weeks
  • postpartum hemorrhage
  • thickened outline over whole gestational sac (0.2–3.0 cm)
  • may show additional distinct disk of placenta
Placenta Previa
= abnormally low implantation of ovum with the placenta covering all / part of internal cervical os
P.1061

Incidence: 0.5% of all deliveries; 3–5% of all pregnancies are complicated by 3rd trimester bleeding; of these 7–11% are due to placenta previa; in 0.26% with unscarred uterus
  • Risk for placenta previa vs. cesarean section:
    • 0.65% after 1 section, 1.8% after 2 sections, 3% after 3 sections, 10% after 4 sections
      Cause: defective decidual vascularization in areas of endometrial scarring causing compensatory placental thinning; placenta occupies a greater surface of the uterus with increased probability for encroachment upon internal os
  • Predisposed:
    • Previous uterine incision (cesarean section, myomectomy)
    • Older women
    • Multiparous women
  • painless vaginal bleeding in 93% (usually 3rd trimester / as early as 20 weeks)
  • Types on clinical examination:
    • Central / total previa (1/3) = complete covering of internal os
    • Partial previa = internal os partially covered by placenta
    • Low-lying placenta = low placental edge without extension over internal os; palpable by examining finger
  • US - False Positives (5–7%):
    • Placental “migration” / rotation
      • = differential growth rates between lower uterine segment + placenta
      • 63–93% will have normal implantation at term!
      • conversion to normal position: anterior wall > posterior wall of uterus
      • NO conversion if placenta attaches to both posterior + anterior walls
    • Overfilled urinary bladder
      • bladder-induced compression leads to apposition of the lower anterior + posterior uterine walls (cervical length >3.5–4 cm) simulating a placenta previa
    • Focal myometrial contraction (myometrial thickness
      • >1.5 cm) in the region of the lower uterine segment
        mnemonic: ABCD and F
        • Abruption (may mimic placenta previa)
        • Bladder (must be empty)
        • Contraction (may have to wait 15–20 minutes)
        • Dates (be wary in 1st half of pregnancy)
        • Fibroid
  • US - False Negatives (2%):
    • Obscuring fetal head
      • remedied by Trendelenburg position / gentle upward traction on fetal head
    • Lateral position of placenta previa
      • remedied by obtaining oblique scans
    • Blood in region of internal os
      • mistaken for amniotic fluid
Cx: (secondary to premature detachment of placenta from lower uterine segment)
  (1) Maternal hemorrhage (blood from intervillous space)
  (2) Premature delivery
  (3) IUGR
  (4) Perinatal death (5%)
Rx: precludes vaginal delivery + pelvic examination
Placental site trophoblastic disease
= very rare neoplasm (? type of choriocarcinoma)
Path: microscopic tumor / diffuse nodular replacement of myometrium
Histo: proliferation of predominantly intermediate trophoblasts but no syncytio- or cytotrophoblasts
  • abnormal bleeding / amenorrhea
  • low β-hCG levels (due to lack of syncytiotrophoblastic proliferation)
  • cystic / solid lesions ± central component
  • myometrium usually invaded
Prognosis: benign / highly malignant course
Rx: hysterectomy
Postmaturity Syndrome
= inability of aging placenta to support demands of fetus
Incidence: in 15% of all postterm gravidas
  • meconium-stained amniotic fluid
  • grade 3 placenta (in 85%), grade 2 (in 15%), grade 1 (in 0%)
  • decreased subcutaneous fat + wrinkling of skin
  • long fingernails
  • decreased vernix
Cx: meconium aspiration, perinatal asphyxia, thermal instability
Postterm Fetus
= fetus undelivered by 42nd week MA
Incidence: 7–12% of all pregnancies
Risk of perinatal mortality: 2-fold at 43 weeks MA, 4–6-fold at 44 weeks MA
Preeclampsia
= TOXEMIA OF PREGNANCY
Incidence: 5% of pregnancies, typically during 3rd trimester
  • Clinical triad:
    • pregnancy-induced / -aggravated hypertension
    • proteinuria
    • peripheral edema + weight gain
Histo: blunted invasion of vasa media of spiral arterioles + focal vasculitis + atheromatous degeneration + fibrin deposits in intima of maternal placental arterioles
  • heavy calcium deposition (in areas of placental degeneration)
  • IUGR (6% with late-onset preeclampsia, 18% with early-onset preeclampsia)
  • Cx:
    • @ CNS
    • @ Liver: hematoma, infarction
    • @ Kidney
Eclampsia
  • convulsions + coma
Premature Rupture of Membranes
  • = spontaneous rupture of chorioamnionic membranes before the onset of labor
  • Types:
    • Preterm premature rupture of membranes (PPROM) <37 weeks GA
    • Term premature rupture of membranes (TPROM) >37 weeks GA
      P.1062

      Incidence: overall 2.1–17.1%; PPROM 0.9–4.4%; in 29% of all preterm deliveries; in 18% of all term deliveries
      Risk of recurrence: 21% of women with PPROM
      Cause: ? infection of membranes
  • Cx:
    • TPROM:
      • >24 hours may result in intrapartum fever
      • >72 hours may result in chorioamnionitis + still-birth
    • PPROM: respiratory distress syndrome (9–43%), neonatal sepsis (2–19%)
Primary Ovarian Choriocarcinoma
= nongestational CHORIOCARCINOMA
Incidence: extremely rare; 50 cases in world literature
Age: <20 years
  • elevated serum hCG
  • predominantly solid tumor with areas of hemorrhage + necrosis
    DDx: metastasis to ovary from gestational choriocarcinoma (reproductive age)
Seckel syndrome
  • = BIRD-HEADED DWARFISM
  • = rare autosomal recessive disorder (44 cases)
  • proportionate postnatal short stature
  • characteristic stance: slight flexion of hips and knees
  • mental retardation
  • simian crease
  • cryptorchidism
  • @ Skull
    • severe microcephaly
    • receding forehead, large beaked nose, micrognathia
  • @ Skeleton
    • dislocation of radial head + hypoplasia of proximal end of radius
    • absence of phalangeal epiphysis
    • clinodactyly of 5th digit
    • gap between 1st and 2nd toe
    • hip dislocation
    • hypoplasia of proximal fibula
    • absence of patella
    • 11 pairs of ribs
  • OB-US:
    • severe IUGR
    • oligohydramnios
    • decreased bone length (femur, tibia, fibula)
    • decreased AC, HC
Serous Ovarian Tumor
  • Most common neoplasm in benign + malignant category
    Incidence: 30% of all ovarian tumors; 60–80% of all malignant ovarian neoplasms
    Path: areas of solid tissue components + hemorrhage and necrosis (more common in malignant tumors)
    Histo: lined by tall columnar epithelial cells (like fallopian tubes), filled with serous fluid, psammoma bodies (= microscopic calcifications in up to 30% of malignant tumors);
    Age: 20–50 years (malignant variety later)
Serous Cystadenoma (60%)
  • Second most common benign tumor of the ovary (after dermoid cyst); 20% of all benign ovarian neoplasms
  • usually unilocular (occasionally multilocular) thin-walled cyst up to 20 cm in diameter
  • only small amount of solid tissue: occasional septum / mural nodule (papillary projections in 9%)
  • bilateral in 7–20–30%
Borderline Malignant Serous Cystadenoma (15%)
  • papillary projections within cyst (in 67%)
Serous Cystadenocarcinoma (25%)
  • = 60–80% of all ovarian carcinomas
  • multilocular cyst with large amount of solid tissue: papillomatous excrescences within cyst (= papillary serous carcinoma) in 38%
  • may have calcifications
  • bilateral in 50–70%
  • loss of capsular definition + tumor fixation
  • ascites secondary to peritoneal surface implantation
  • lymph node enlargement (periaortic, mediastinal, supraclavicular)
  • CT:
    • psammomatous calcifications (12%)
Sertoli–Stromal Cell Tumor of Ovary
= androblastoma = ARRHENOBLASTOMA
Origin: from hilar cells of ovary
Incidence: <0.5%
Age: any age; most common in 2nd–3rd decade
Histo: components of Sertoli cells, Leydig cells, fibroblasts
  • androgenic
  • hypoechoic mass simulating fibroid
  • may have cystic / hemorrhagic degeneration
Sertoli-Leydig Cell Tumor
  • Most common virilizing tumor of ovary!
Incidence: 0.5% of all ovarian neoplasms
Age peak: 25–45 years (range 15–66 years); 75% occur in patients <30 years of age
Path: solid ± cystic areas; hemorrhage is rare
Histo: 6 subtypes; tissues are so varied that it is frequently confused with other tumors
  • virilization (30%): amenorrhea, male secondary sexual characteristics
  • estrogenic (20%); no hormonal manifestations (50%)
  • small mass often difficult to visualize by US / CT
  • solid mass with cystic components (hemorrhage ± necrosis)
  • well-defined hypoechoic mass ± intratumoral cysts
  • calcifications are unusual
  • contrast enhancement
  • unilateral (95%), up to 27 cm in diameter
Cx: malignant transformation in 10–18%
Prognosis: good when detected as stage I (in 92%); tend to recur soon after initial diagnosis
DDx: granulosa cell tumor (spongelike multicystic with areas of hemorrhage)
P.1063

Single Umbilical Artery
  • = Two-vessel cord
  • Etiology:
    • Primary agenesis of one umbilical artery (usually first appears in 5th menstrual week)
    • Secondary atrophy / atresia of one umbilical artery
    • Persistence of original single allantoic artery of the body stalk
      Incidence: 0.2–1% of singleton births; 5% in dizygotic twins; 2.5% in abortuses; increased incidence in trisomy D / E, diabetic mothers, White patients, spontaneous abortions
  • Associated with:
    • Congenital anomalies (21%):
      • CHD (most frequent): VSD, conotruncal anomalies
      • Abdomen: ventral wall defect, diaphragmatic hernia
      • CNS: hydrocephalus, holoprosencephaly, spina bifida
      • GU: hydronephrosis, dysplastic kidney
      • Esophageal atresia, cystic hygroma, cleft lip
      • Polydactyly, syndactyly
    • IUGR
    • Premature delivery
    • Perinatal mortality (20%): stillbirth (66%)
    • Marginal (18%) / velamentous (9%) insertion of umbilical cord
    • Chromosomal anomalies (67%): trisomy 18 > trisomy 13 > Turner syndrome > triploidy
  • Site: left artery slightly more often absent than right
  • axial view of cord shows 2 vessels
  • single umbilical artery nearly as large as umbilical vein (umbilical vein-to-umbilical artery ratio < 2)
  • incurvation of distal aorta toward common iliac artery on the side of patent umbilical artery
  • ipsilateral hypoplastic common iliac artery
  • absence of abdominal portion of umbilical artery on ipsilateral side of missing umbilical artery
  • color flow imaging permits earlier (15–16 weeks) + more confident diagnosis
  • Prognosis:
    • 4-fold increase in perinatal mortality (14%) with concurrent major abnormality
    • Isolated single umbilical artery does not affect clinical outcome
  • DDx:
    • Normal variant = two arteries at fetal end may fuse near placental end into single umbilical artery (umbilical arteries normally unite with allantoic artery near placental insertion)
    • Arterial convergence of 2 into 1 umbilical a.
Stein-Leventhal Syndrome
= POLYCYSTIC OVARY SYNDROME
Incidence: 2.5% of all women
Etiology: deficient aromatase activity (catalyst for conversion of androgen into estrogen) results in androgen excess; exaggerated pulsatile release of LH stimulates continued ovarian androgen secretion at the expense of estradiol; reduction of local estrogen impairs FSH activity; this results in accumulation of small- + medium-sized atretic follicles without final maturation into graafian follicles
Path: pearly white ovaries with multiple cysts below the capsule, which are lined by a hyperplastic theca interna layer showing pronounced luteinization; granulosa cells are absent / degenerating; corpora lutea are absent
Age: late 2nd decade
Associated with: Cushing syndrome, basophilic pituitary adenoma, postpill amenorrhea, virilizing ovarian / adrenal tumor
  • reduced infertility / sterility
  • mild facial / severe generalized hirsutism
  • obesity
  • secondary amenorrhea (most common cause)
  • menstrual irregularities / oligomenorrhea
  • cystic acne
  • cephalic hair loss
  • periodic abdominal discomfort
  • elevated LH levels without LH surge + normal / decreased FSH = increased LH/FSH ratio
  • elevated androstenedione / testosterone levels
  • elevated estrone / estradiol
  • bilaterally enlarged ovaries >15 cm3 (70%)
  • normal ovarian size (in 30%), polycystic ovaries have a volume of 6–30 cm3
  • excessive number of developing follicles:
    • multiple (more than 5) small cysts of 5–8 mm in subcapsular location (40%)
    • hypoechoic ovaries (25%)
    • isoechoic ovaries (5%)
Cx: endometrial cancer <40 years of age (due to unopposed chronic estrogen stimulation)
DDx: ovaries in congenital adrenal hyperplasia, normal ovaries
Rx: (1) Ovulation induction with clomiphene (Clomid®) / menotropins (Pergonal®)
  (2) Wedge resection (transient effect only)
Steroid Cell Tumors
  • = LIPID / LIPOID CELL TUMORS
  • = characterized by cells resembling typical steroid-secreting cells (lutein cells, Leydig cells, adrenocortical cells)
Incidence: 0.1–0.2% of all ovarian tumors
Age: wide range of ages; usually 5th–6th decade
Types: stromal luteoma, Leydig / hilus cell tumor, steroid tumor not otherwise specified
Path: usually <3 cm yellow nodule with rich vascularity; rarely cystic
Histo: abundant clear cytoplasm + varying amounts of lipid resembling adrenocortical cells
  • virilizing (majority): amenorrhea, hirsutism
  • Cushing syndrome (rare)
  • unilateral solid tumor
  • cystic change / necrosis (rare)
  • MR:
    • high-signal intensity on T1WI (lipid content)
    • intense contrast enhancement (high tumor vascularity)
Prognosis: clinically malignant (33%)
Stuck Twin
  • = one twin with IUGR residing within an oligo- / anhydramniotic sac of a diamniotic twin pregnancy
  • P.1064

  • amnion invisible secondary to close contact with fetal parts
  • fetus fixed relative to the uterine wall without change during shift in maternal position
  • diminished / absent active fetal motion
  • absence of intermingling of fetal parts between twins
Prognosis: fetal death in utero
Succenturiate Lobe of Placenta
  • = ACCESSORY LOBE
  • = separate mass of chorionic villi connected to main placenta by vessels within membrane
Cause: placental villi atrophy in area of inadequate blood supply + proliferate in two opposite directions (trophotropism) with fetal vessels remaining at the site of villous atrophy
Incidence: 0.14–3%
Cx: (1) Retained in utero with postpartum hemorrhage
  (2) Placenta previa with intrapartum hemorrhage
  (3) Vasa previa = succenturiate vessels traversing internal os, which may rupture resulting in fetal blood loss
Teratoma of Neck
  • = germ cell tumor of neck (oropharynx, tongue)
  • polyhydramnios in 30% (from esophageal obstruction)
  • complex mass in cervical region
Cx: airway obstruction
DDx: cystic hygroma, goiter, branchial cleft cyst, cervical meningocele, neuroblastoma of neck, hemangioma of neck
Teratoma of Ovary
= immature derivatives of all 3 germ cell layers
Incidence: rare
Age: childhood / adolescence
  • cystic / complex mass (most frequently)
  • usually large solid mass with internal echoes
Theca Cell Tumor of Ovary
  • = THECOMA = FIBROSED THECOMA = FIBROTHECOMA
  • = spectrum of tumors with varying amounts of theca cells (lipid-rich with estrogenic activity) + fibroblasts
Histo: theca cells contain intracellular lipids
Incidence: 4–6% of all ovarian neoplasms; 50% of all gonadal-stromal tumors
Age: mean age of 59 years; >30 years (30%); postmenopausal (70%)
May be associated with: endometrial hyperplasia / ca.
  • estrogenic with uterine bleeding
  • hypoechoic mass with sound attenuation
  • unilateral
  • MR:
    • low signal intensity on T2WI for fibrotic component
    • high signal intensity on T2WI for components with little / no fibrosis
Luteinized Thecoma
= rare subtype of fibrothecomas associated with virilization rather than estrogenic activity
Theca Lutein Cyst
= multiple bilateral corpus luteum cysts as a form of ovarian hyperstimulation
  • associated with abnormally high levels of β-hCG secondary to
    • multiple gestations
    • gestational trophoblastic disease (in 40%)
    • fetal hydrops
    • pharmacologic stimulation with β-hCG
    • normal pregnancy (uncommon)
  • multiloculated cysts, often bilateral
  • ovaries several cm in size
  • involution within a few months after source of gonadotropin removed
Torsion of Ovary
  • = result of rotation of ovary ± tube on its axis producing arterial, venous, and lymphatic stasis
  • Cause:
    • Enlarged ovary (large cyst / tumor, paraovarian cyst)
      • Benign cystic teratoma is most common neoplasm
    • Hypermobility of adnexa (more frequent in younger children + during pregnancy), excessively long mesosalpinx, tubal spasm
  • Associated with: ipsilateral ovarian lesion (in 50–81%)
  • Age: usually affects prepubertal girls, may occur prenatally, increased risk during pregnancy
  • Path: hemorrhagic necrosis
  • Pathophysiology: circulatory stasis is initially venous; becomes arterial as torsion + edema progress; complete obstruction of arterial blood supply leads to gangrenous + hemorrhagic necrosis
  • •gradual / sudden onset of severe lower abdominal pain
  • • nausea, vomiting, fever
  • • palpable mass in 50%
  • Location: R:L = 3:2 (? protective effect of sigmoid mesentery)
  • deviation of uterus toward side of torsion (36%)
  • engorgement of blood vessels on side of torsion
  • small amount of clear (64%) / hemorrhagic (8%) ascites
  • US:
    • markedly enlarged hypo- / hyperechoic midline mass
    • multiple peripheral cysts (= transudation of fluid into follicles) measuring 8–12 mm in diameter (64–74%)
    • good sound transmission (vascular engorgement + stromal edema)
    • free fluid in cul-de-sac (32%)
    • absence of arterial Doppler waveforms (not always reliable due to dual blood supply by ovarian + uterine artery
    • “whirlpool sign” = twisted ovarian pedicle
    • ± complex mass (if secondary to cyst / tumor)
  • CT:
    • amorphous / tubular masslike structure (84%) between adnexal mass + uterus due to tube thickening >10 mm
      N.B.: the diameter of the normal tube measures up to 4 mm at isthmic, 8 mm at ampullary, 10 mm at infundibular portion
    • whorled structure abutting ovarian mass (= twisted vascular pedicle)
    • P.1065

    • cystic ovarian mass with smooth wall thickening (76%):
      • >10 mm thickness suggests hemorrhagic infarction
    • obliteration of fat planes around torsed ovary
    • attenuation >50 HU means hemorrhagic infarction on NECT
    • lack of enhancement of solid component
  • MR:
    • thickened cyst wall / mural nodule
    • high signal intensity on fat-suppressed T1WI (= hemorrhage / vascular congestion)
    • no enhancement of solid component on contrast-enhanced dynamic subtraction MR
    • tube thickening (SAG image improves detection)
  • Prognosis:
    • Spontaneous detorsion is common (history of prior similar episodes = intermittent torsion)
    • Infection of torsed ovary with local peritonitis ± bowel obstruction
  • Rx: immediate surgery (most ovaries not salvageable)
Triploidy
  • = 69 chromosomes
  • Incidence: 1% of conceptions; 0.04% of 20-week fetuses
  • NO obvious pattern!
  • early severe asymmetric IUGR (MOST PROMINENT FEATURE); cephalocorporal disproportion
  • oligohydramnios
  • large hydropic placenta with scattered vesicular spaces (partial hydatidiform mole)
  • congenital heart disease: ASD, VSD
  • brain anomalies: hydrocephalus, holoprosencephaly, neural tube defect
  • cleft lip / palate
  • syndactyly of fingers
  • omphalocele
  • renal abnormalities
  • Prognosis: most ending in spontaneous abortion
Trisomy 13
  • = Patau SYNDROME
  • Incidence: 1:5,000 live births
  • @ OB: severe IUGR, hydramnios
  • @ CNS: alobar holoprosencephaly, posterior encephalocele, neural tube defect
  • @ Face: midline labial cleft, proboscis, hypotelorism, cyclopia, anophthalmia
  • @ Skeleton: postaxial polydactyly, rocker-bottom foot
  • @ Heart: (CHD in 90%) VSD, echogenic chordae tendineae, hypoplastic ventricle, tetralogy of Fallot, transposition
  • @ Kidney: polycystic kidney, horseshoe kidney
  • @ GI: omphalocele (occasionally)
  • Prognosis: few infants live more than a few days / hours; death by 3 months of age
  • DDx: Meckel-Gruber syndrome
Trisomy 18
  • = EDWARDS SYNDROME
  • Incidence: 1:3,000 live births
  • •triple-marker screening test:
  • •decreased maternal alpha-fetoprotein
  • • decreased hCG (DDx: increased in Down syndrome)
  • • decreased estriol
  • no anomalies (14%) on initial 2nd-trimester sonogram only due to incomplete / early gestational age
    @OB: severe symmetric IUGR (28% <24 weeks MA), single umbilical artery (30%), polyhydramnios (occasionally)
    @Face: micrognathia, hypotelorism, facial cleft (10–40%)
    @Head: strawberry-shaped head (50%), cystic hygroma
    @CNS: holoprosencephaly, choroid plexus cyst (30–51–75%), cerebellum ≥10th percentile with prominent cisterna magna (45%), myelomeningocele
    @Hand: clenched hand with overlapping of index finger (33%, HIGHLY CHARACTERISTIC), abnormal wrist position (27%)
    @Arm: shortened radial ray, clubbed forearm
    @Foot: clubbed foot, rocker-bottom foot
    @Heart: (CHD in 90%) VSD (82%), ASD (8%), complete AV canal, DORV
    @GI: diaphragmatic hernia, omphalocele (30–40%), TE fistula
    @Kidney: polycystic kidney, horseshoe kidney, UPJ obstruction
  • Prognosis: usually delivered by emergency cesarean section due to IUGR + fetal distress, if not detected prenatally; death by 1 year of age
Twin Embolization Syndrome
  • = rare complication of monochorionic pregnancy following the death of one twin whose blood pressure falls to zero
  • Pathophysiology:
    • Acute reversal of transfusion to co-twin at time of intrauterine demise of one twin with ischemic changes in survivor
    • Embolization of thromboplastin-enriched blood / detritus from the dead to the living twin through vascular anastomoses in placenta
  • Embolized organs: CNS (72%), GI tract (19%), kidneys (15%), lungs
  • ventriculomegaly, cortical atrophy, porencephalic cyst, cystic encephalomalacia within 2 weeks of death of co-twin
Twin-Twin Transfusion Syndrome
  • = fetofetal TRANSFUSION SYNDROME= monovular TWIN TRANSFUSION = INTRAUTERINE PARABIOTIC SYNDROME
  • = complication of monozygotic twinning with one placenta or one fused placenta of mono- / dizygotic twins
    Incidence: 5–18% of twin pregnancies; 5–15% of monozygotic multiple pregnancies; 15–30% of monochorionic twin gestations
    Cause: unbalanced intrauterine shunting of blood through shared placental vessels
    Time of onset: 2nd trimester with discordant amniotic fluid volumes
    Path: large communication between arterial circulation of one twin and venous circulation of the other twin through arteriovenous shunt (= common villous district) deep within placenta
  • P.1066

  • discrepant amniotic fluid volume (75%)
  • discordant BPD by >5 mm (57%)
  • discordant estimated fetal weight >25% (67–100%)
  • DONOR TWIN
    • = twin that transfuses the recipient twin + remains itself underperfused
    • • anemia + hypovolemia
    • • high output cardiac failure + hydrops (rare)
    • oligohydramnios (75–80%) / “stuck twin” = severe oligohydramnios (60%) from oliguria
    • intrauterine growth restriction (common) diagnosed by discordant EFW of >25%
    • morphologically normal
  • RECIPIENT TWIN
    • • polycythemia (higher hemoglobin)
    • • plethora = hypervolemia (volume overload)
    • polyhydramnios (70–75%) from increased fetal urination
    • fetal hydrops (10–25%): pericardial + pleural effusions, ascites, skin thickening
    • organomegaly
    • fetus papyraceus = macerated dead fetus
    • velamentous cord insertion (64%)
  • Prognosis: 80–100% perinatal mortality if presenting <28 weeks MA and left untreated
  • Cx: amniorrhexis, preterm labor
  • Rx: elective termination, volume-reduction amniocentesis of polyhydramniotic sac (decreasing mortality rates to 34%), selective feticide, laser ablation of vascular anastomoses
  • DDx: IUGR of one dizygotic twin (two separate placentas, two different sexes)
Uterine Anomalies
  • = anomalies of fusion of paramesonephric duct (= müllerian duct) completed by 18th week of fetal life
  • Incidence: 0.1–3%
  • Uterine anomalies are found in 9% of women with infertility / repeated spontaneous abortions!
  • 25% of women with uterine abnormalities have fertility problems!
  • Associated with: urinary tract anomalies in 20–50%; possibly increased familial occurrence of limb reduction
  • Embryology:
    • müllerian ducts develop at 5–6 weeks GA from coelomic epithelium and form uterovaginal canal by lateral fusion at 7–9 weeks GA
    • by 8 weeks the uterovaginal canal reaches the urogenital sinus at the müllerian tubercle while a vaginal plate develops distally resulting in vertical fusion (upper 2/3 to 4/5 of vagina are of müllerian duct origin, lower 1/3 or 1/5 of vagina originate from urogenital sinus)
  • Classification:
    [classes in parenthesis refer to the classification of the American Fertility Society]
    • ARRESTED MœLLERIAN DUCT DEVELOPMENT
      • bilateral: Uterine agenesis / hypoplasia (class I)
        • Incidence: 1:5,000
          Often associated with: vaginal agenesis / hypoplasia
          Age of detection: menarche
        • small uterus with small endometrial canal
        • poor zonal differentiation + abnormal T2-hypointense myometrium
      • unilateral: Unicornuate uterus = Uterus unicornis unicollis (class II)
        • with contralateral rudimentary horn
        • without rudimentary horn
        • Incidence: 3–6–13% of uterine anomalies
        • May be associated with: ipsilateral renal agenesis
        • • infertility in 5–20%
        • • ? pregnancy wastage
        • reduced uterine volume
        • asymmetric ellipsoidal uterine configuration
        • rudimentary horn may contain endometrium + may communicate with main uterine cavity
        • solitary fusiform “banana-shaped” uterine cavity with lateral deviation within pelvis terminating in a single fallopian tube on HSG
        • Cx: cryptomenorrhea within endometrium-containing rudimentary horn that does not communicate with endometrial cavity
      • Mayer-Rokitansky-Küster-Hauser syndrome
        • vaginal agenesis / hypoplasia of proximal + middle segments
        • intact normal ovaries + fallopian tubes
        • variable anomalies of uterus (agenesis / hypoplasia, uni- or bicornuate), urinary tract (renal agenesis, pelvic kidney in 40–50%), skeletal system (12%)
        • Frequency: 1:4,000–1:5,000
        • Cause: lack of müllerian development
        • • normal external genitalia
        • • shallow distal vaginal pouch (derived from urogenital sinus)
        • • amenorrhea
        • • cyclic pelvic pain (secondary to functioning endometrium within rudimentary uterine tissue) in 6–10%
        • 2nd most common cause of primary infertility
        • Rx: neovaginoplasty
    • TOTAL / PARTIAL FAILURE OF MÜLLERIAN DUCT FUSION = duplication defects = disorders of lateral fusion (75% of uterine anomalies)
      • Uterus didelphys (class III)
        • = complete duplication with 2 vaginas + 2 cervices + 2 uterine horns
        • May be associated with: renal agenesis
        • • usually asymptomatic; frequently first diagnosed during routine obstetric sonography
        • two widely spaced uterine corpora, each with a single fallopian tube
        • separate divergent uterine horns
        • large fundal cleft
        • cervical duplication
        • transverse vaginal septum between upper one-third and lower two-third of vagina (occasionally with ipsilateral renal agenesis)
        • opacification of single deviated horn on HSG
          P.1067

          Cx: unilateral hydro- / hematocolpos (if transverse vaginal septum present) with reflux endometriosis
          Rx: surgery is rarely performed
      • Bicornuate uterus = uterus bicornis (class IV)
        • = lack of fusion of corpus
          • bicornis bicollis = complete with division down to internal os
          • bicornis unicollis = partial
        • external uterine fundal contour (MRI):
          • concave surface depression >2 cm deep
          • large fundal cleft
        • separation of uterine horns
        • intercornual angle of >75–105° (demonstrated on luteal-phase US in conjunction with HSG)
        • intercornual distance (= distance between maximum lateral extent of hyperintense endometrium on transaxial image) >4 cm
        • divider between cornua comprised of myometrium / fibrous tissue / both
        • fusiform shape of each uterine horn with lateral convex margins
        • discrepancy in size of the 2 uterine horns
        • elongation + widening of cervical canal + isthmus
        Laparoscopy: typical external fundal indentation
        Cx: repeated spontaneous abortions (frequently in 2nd–3rd trimester), premature rupture of membranes, premature labor, SGA infant, persistent malpresentations (transverse lie)
        Rx: transabdominal surgery to fuse uterine horns (abdominal / open metroplasty)
  • NONRESORPTION OF SAGITTAL UTERINE SEPTUM
    • Septate uterus (class V)
      • Most common anomaly (almost 50%) associated with reproductive failure in 67%
      • Path: septum may be composed of fibrous tissue (low-signal intensity), myometrium (intermediate-signal intensity), or both
      • convex / flat / minimally indented (≥1 cm) external fundal contour
      • distal portion of septum hypoechoic to myometrium (= fibrous tissue)
      • intercornual angle of ≥75° (MRI more accurate than HSG with its projectional problems)
      • duplication of uterine horns on HSG (DDx to bicornuate uterus unreliable)
      • endometrial canals completely separated by tissue isoechoic to myometrium extending into endocervical canal
      • Types:
        • Uterus septus
          • = complete septum extending to internal os
        • Uterus subseptus
          • = partial septum involving endometrial canal
          • Cx: 90% abortion rate (poor septal vascularity)
          • Rx: hysteroscopic metroplasty (= excision of septum)
      • Uterus arcuatus (class VI)
        Uterine Anomalies
        • Most common anomaly unassociated with reproductive failure
        • NO division of uterine horns
        • normal fundal contour
        • smooth indentation of fundal endometrial canal
        • increased transverse diameter of uterine cavity
        • single uterine canal with saddle-shaped fundus on HSG
    • INADEQUATE HORMONAL STIMULATION DURING FETAL DEVELOPMENT
      = DES (= diethylstilbestrol)-related abnormalities (class VII)
      • synthetic hormone used in 1950s + 1960s to prevent miscarriage
      • may cause abnormal uterine morphology (with decreased fertility)
      • increased risk of vaginal malignancy
      • Uterine hypoplasia
        • associated with DES exposure in utero
        • mean uterine volume = 50 cm3
      • T-shaped uterus
        • encountered in 15% of women exposed to DES in utero
        • low uterine volume
        • uterine fundus thinner than cervix
        • greater width than depth of corpus + fundus over cervix
        • T-shaped lumen on hysterosalpingogram
P.1068

Uterine Leiomyoma
  • = FIBROID = MYOMA
  • = benign overgrowth of smooth muscle + connective tissue
  • Most common gynecologic neoplasm! Commonest cause for uterine enlargement after pregnancy!
    Incidence: in 20–25% of White women; in 50% of Black women; Black:White women = 3:1–9:1; 0.3–2.6% during pregnancy; account for 30% of all hysterectomies in USA
    Path: whorl-like trabeculated mesenchymal tumor surrounded by pseudocapsule; may outgrow its blood supply resulting in:
    • hyaline degeneration (>60%) = homogeneous eosinophilic bands / plaques of proteinaceous material in extracellular space
    • myxoid degeneration = gelatinous intratumoral foci of hyaluronic acid-rich mucopolysaccharides
    • cystic degeneration (4%) = extreme sequelae of edema
    • red / hemorrhagic / carneous degeneration
      = massive hemorrhagic infarction due to venous thrombosis / rupture of intratumoral arteries; often during pregnancy / during use of oral contraceptives
    • calcification (4%) = dense amorphous calcifications within hyalinized tissue
  • Specific types:
    • Lipoleiomyoma (0.8%) = substantial amount of fat due to fatty metamorphosis
    • Myxoid leiomyoma = rare soft translucent mass due to abundant myxoid material between smooth muscle cells, may be clinically malignant
    • Intravenous leiomyomatosis = wormlike masses growing within pelvic veins
    • Benign metastasizing leiomyoma
    • Diffuse leiomyomatosis = development of innumerable small leiomyomas
      • symmetric enlargement of uterus
    • Peritoneal disseminated leiomyomatosis
      • • frequently associated with pregnancy
      • multiple nodules on peritoneal surface
    • Histo: monoclonal proliferation of smooth muscle cells (NOT myometrial hyperplasia) separated by variable amounts of fibrous connective tissue
    • Hormonal dependency:
      • Higher estrogen:progesteron receptor ratio than in normal myometrium!
        • Growth during pregnancy in 15–32% by a mean volume of 12 ± 6% within the 1st trimester (NOT during remainder of pregnancy)
          • The larger the myoma, the greater the likelihood of growth!
        • Growth under estrogen therapy
        • Shrinkage in puerperium + after menopause
    • Age: usually >30 years; rare in girls <18 years + in postmenopausal women
    • • asymptomatic in 70–75%
    • • palpable abdominopelvic mass
    • • pelvic pressure:
      • urinary frequency (due to compression of bladder)
      • constipation (due to impingement on rectosigmoid)
    • pain (30%) due to acute hemorrhagic infarction + necrosis, torsion of pedunculated subserosal fibroid, prolapse of pedunculated submucosal fibroid
    • dysmenorrhea (= colicky pelvic pain with menstruation)
    • abnormal uterine bleeding:
      • menorrhagia / hypermenorrhea (= heavy + prolonged menstrual flow)
      • metrorrhagia (= uterine bleeding outside time of menstruation)
    • •infertility (infrequent)
    • Location: mostly in fundus + corpus; cervix (3–8%); fallopian tube; broad ligament; ovary
    • Classification by location in uterus:
      • Intramural fibroid (within confines of uterine outline) in 95%
        • asymptomatic (mostly)
        • occasionally menorrhagia (due to interference with normal uterine contractility)
        • occasionally infertility (due to compression of interstitial portion of fallopian tube / distortion of endometrial cavity)
      • Subserosal / exophytic fibroid
        • usually asymptomatic
        • pain from infarction due to torsion
        • intraligamentous fibroid (lateral growth between folds of broad ligament)
          • • simulates ovarian mass
          • • occasionally infertility (due to compression of isthmic / ampullary portion of fallopian tube)
          • Cx: hydroureteronephrosis (due to compression of ureter)
        • parasitic fibroid = subserosal fibroid, which has become detached secondary to circulatory occlusion of vessels in pedicle; revitalized through omental / mesenteric blood supply
      • Submucosal fibroid (4–5–18%) = projecting into endometrial canal
        • Most frequently symptomatic type of fibroid:
          • • dysmenorrhea, menorrhagia, infertility
          • • increased prevalence of early abortion
          • Cx: hemorrhage, ulceration
        • (a) fibroid polyp (2.5%) = partial / complete extrusion of pedunculated submucosal fibroid into cervical canal / vagina
    • uterine enlargement
    • lobulated / nodular distortion of uterine outline (subserosal leiomyoma) + indentation of urinary bladder
    • distortion / obliteration of the contour of the uterine cavity (submucosal leiomyoma)
    • intramural soft-tissue mass (most frequent), usually multiple, solitary in 2%
    • speckled / ringlike / popcorn calcification
    • US (60% sensitivity, 99% specificity, 87% accuracy):
      • hypoechoic solid concentric mass (<33%) (= muscle component prevails)
      • echogenic attenuating mass (= dense fibrosis prevails)
      • sharp discrete refractory shadows (from borders between fibrous tissue and smooth muscle, margins of leiomyoma with normal myometrium, edges of whorls, bundles of smooth muscle)
      • P.1069

      • anechoic features (secondary to internal degeneration: atrophic, hyaline, cystic, myxomatous, lipomatous, calcareous, carneous, necrobiotic, hemorrhagic, proteolytic degeneration)
      • acoustic shadowing (= calcifications)
      • Presence of a prominent artery by color Doppler suggests potential for growth during pregnancy
    • CT:
      • hypo- / iso- (usually) / hyperdense mass
      • deformed uterine contour
      • calcifications (common)
    • MR (86–92% sensitive, 100% specific, 97% accurate; most accurate + desirable for planning myomectomy):
      N.B.: subserosal, intramural and submucosal classification enabled by uterine zonal anatomy
      • @ Nondegenerated leiomyoma
        • well-circumscribed mass
          • of homogeneously low signal intensity on T2WI compared with myometrium (for leiomyoma with variable amounts of collagen)
          • isointense to surrounding uterus on T1WI
        • slightly higher signal intensity + contrast enhancement on T2WI (for cellular leiomyoma with little / no collagen)
      • @ Degenerated leiomyoma
        • Histo: hyaline fibrosis (60%), edema (50%), hemorrhage (10%), cystic degeneration (4%), microcalcifications (4%)
        • low signal intensity on T2WI (for hyaline / calcific degeneration)
        • high signal intensity on T2WI (for cystic degeneration) without enhancement of cystic areas
        • very high signal intensity on T2WI (for myxoid degeneration) with minimal enhancement
      • variable signal intensity on T1WI + low signal intensity on T2WI (for hyaline / coagulative necrosis)
      • peripheral / diffuse high signal intensity on T1WI (due to proteinaceous content of blood) + variable signal intensity on T2WI (for red degeneration)
    • hyperintense rim on T2WI in 33% (= pseudocapsule of dilated lymphatics / veins / edema)
    • enhancement pattern (usually later than myometrium): 65% hypointense, 23% isointense, 12% hyperintense to myometrium
  • Hysterosalpingography (9% sensitive, 97% specific, 76% accurate)
  • Cx:
    • Infertility in 35%
      • narrowing of isthmic portion of tube
      • impingement on endometrium interfering with implantation; infertility rates highest for submucosal leiomyomas
    • Complications during pregnancy
      • Significantly increased for myomas >6 cm in size / multiple in number / myomas >200 cm3 and when fibroid is retroplacental
      • increased frequency of spontaneous abortions
      • increased frequency of ectopic pregnancies
      • increased frequency of IUGR
      • preterm labor in 7% + premature rupture of membranes
      • placental abruption
      • uterine dyskinesia, uterine inertia during labor
      • dystocia, obstruction of birth canal during vaginal delivery (if near internal os)
      • abnormal presentation
      • postpartum hemorrhage
      • retained products of conception
    • Hydroureteronephrosis
    • Leg edema (due to compression of pelvic vessels)
    • Malignant transformation (in 0.2%)
  • Rx: (1) Hysterectomy for pain, menorrhagia, visceral compression (after childbearing completed)
  • (2) Myomectomy for 2nd trimester fetal loss / anemia due to hypermenorrhea / pelvic pain
  • Submucosal leiomyomas may be treated with hysteroscopic myomectomy
  • (3) Uterine artery embolization for symptomatic fibroids
  • DDx of necrotic leiomyoma:
    • Ovarian mass (ovarian cyst, hemorrhagic cyst, endometrioma, cystic dermoid, cystadenoma, malignancy)
    • Ectopic interstitial pregnancy
    • Intrauterine gestational sac
    • Intrauterine fluid collection
    • Hydatidiform mole
    • Myometrial contraction (lasts for 15–30 minutes)
    • Cervical tumor
    • Hematoma of broad ligament
  • DDx of pedunculated subserosal leiomyoma:
    • Ovary: use transvaginal US / MR to identify follicles!
  • DDx of leiomyoma by MR:
    • Adenomyosis
    • Solid adnexal mass (Brenner tumor, fibroma)
    • Focal myometrial contraction (transient)
    • Uterine leiomyosarcoma
Uterine Lipoleimyoma
  • = uncommon benign uterine neoplasm
  • Cause: fatty metamorphosis of smooth muscle cells
  • Histo: smooth muscle + fat + connective tissue
  • Associated with: leiomyomas
  • Location: corpus; predominantly intramurally, endophytic or exophytic
  • US:
    • well-defined hyperechoic mass surrounded by a hypoechoic ring of myometrium
  • CT:
    • predominantly fatty mass + areas of nonfat soft-tissue density tissue arising from uterus
  • MR:
    • hyperintense fat on T1WI + T2WI with chemical shift artifact
Benign Metastasizing Leiomyoma
  • = smooth muscle tumors in lung, lymph nodes, abdomen
  • Incidence: <60 cases
  • Classification:
    • Benign metastasizing leiomyoma
      Origin: uterus in mature women; progression with estrogen + regression with progesterone
      • benign uterine leiomyoma removed many years earlier
        P.1070

        Rx: hysterectomy, bilateral oophorectomy, long-term hormone therapy; good prognosis
    • Metastatic leiomyoma
      Origin: extrauterine primary in men + children (? slow-growing sarcoma)
      Rx: surgical resection with mixed success
    • Multiple fibroleiomyomatous hamartoma
      Origin: lung; totally benign behavior
      Spread: lymph nodes outside the pelvis, peritoneal surface, venous channels, lung, heart
  • asymptomatic in most cases
  • fever, mild nonproductive cough
Histo: well-differentiated benign-appearing smooth muscle cells
  • multiple pulmonary nodules
  • miliary pattern
  • pedunculated pulmonary leiomyoma with cyst formation
  • giant cyst
Uterine Leiomyosarcoma
Incidence: 0.67:100,000; 25% of all uterine sarcomas
Cause: (a) de novo growth independent of leiomyoma!
  (b) sarcomatous transformation of preexisting leiomyoma (in <1% of leiomyomas)
Histo: infiltrative margins, nuclear atypia, increased mitotic figures
  • rapidly enlarging uterus (<3%)
  • mass with irregular margin
  • rapid change in size + appearance
  • extensive degeneration
  • loss of well-defined outer capsule
    Dx: often first established by pathologist
Uterine Rupture in Pregnancy
  • = disruption of all layers surrounding the fetus (membranes, decidua, myometrium, serosa)
  • Prevalence: 3–5% for classic cesarean sections; 1–2% for lower segment operations
  • Classification:
    • Spontaneous rupture during labor
    • Traumatic rupture during delivery
    • Rupture due to myometrial scars / disease
  • Predisposed: previous uterine surgery, previously excessively long / difficult labor
  • Location:
    • corpus with rupture before onset of labor
    • lower uterine segment during labor, L > R
  • Cx: hypofibrinogenemia (triggered by excessive blood loss, trauma, amniotic fluid embolism)
  • Mortality: 2–20% maternal mortality; 10–25% fetal mortality
  • DDx: Uterine dehiscence = rupture of only myometrium
Uterine Trauma During Pregnancy
Incidence: 6–7%
Cause: motor vehicle accident (70%), physical abuse (10%)
  • Placental abruption: complete (6–66%) / incomplete (30–80%)
  • Uterine rupture (0.6%)
  • Fetal injury (eg, cerebral injury)
  • Fetal death
  • The major cause for fetal death is maternal death
US: evaluate fetal motion, breathing, heart rate, placenta
Vaginal Agenesis
  • 2nd most common cause of primary amenorrhea
Incidence: 1:4,000–5,000 women
  • cyclic abdominal pain
  • May be associated with:
    • Uterine + partial tubal agenesis (90%)
    • Unilateral renal agenesis / ectopia (34%)
    • Skeletal malformations (12%)
    • McKusick-Kaufman syndrome (hydrometrocolpos + polydactyly + heart defects)
    • Ellis-van Creveld syndrome
Vasa Previa
= rare type of velamentous cord insertion in which umbilical vessels cross the internal os
  • vessels connecting separate succenturiate lobe to main portion of placenta
  • cord vessels of velamentous (membranous) cord insertion from low-lying placenta
  • aberrant chorionic vessels in association with marginal cord insertion from low lying placenta
Cx: (1) Bleeding from torn fetal vessels
  (2) Cord compression by presenting part during labor
  (3) Cord prolapse
Risk: 50–100% fetal mortality
Velamentous Cord Insertion
  • = umbilical cord insertion into membranes before entering placenta = attachment of cord to chorion laeve
  • Incidence: 0.09–1.8%
  • Associated with:
    • multiple gestation, uterine anomaly, IUD
    • congenital anomalies (in 5.9–8.5%):
      • asymmetric head shape, spina bifida, esophageal atresia, obstructive uropathy, VSD, cleft palate
Cx: (1) IUGR
  (2) Preterm labor
Risk: (1) Cord compression
  (2) Rupture of cord with traction during delivery