Complications in pregnancy
severe generalized massive edema often seen with hydrops fetalis.
inward curving of the fifth finger associated with Down syndrome.
abnormal outward bending or twisting of the elbow.
gravest form of pregnancy-induced maternal hypertension characterized by seizures, coma, proteinuria, and edema.
a condition in which the ventral wall of the chest fails to close and the heart develops outside of the chest.
a condition where the skull is defective, causing exposure or extrusion of the brain
demise of a twin that is too large to reabsorb.
underdevelopment of the jaw, especially the mandible.
abnormal smallness of one or both eyes.
congenital anomaly characterized by the presence of more than the normal number of digits.
an abnormal condition characterized by the onset of acute hypertension after 24 weeks’ gestation. Classic triad includes maternal edema, proteinuria, and hypertension.
premature rupture of membranes (PROM)
early rupture of the gestational sac with leakage of part or all of the amniotic fluid.
onset of labor before 37 weeks’ gestation.
caused when the mother forms a corresponding antibody to the fetal blood, resulting in destruction of fetal red blood cells.
Increased distance between the first and second toes associated with Down syndrome.
overlapping of the cranial bones associated with fetal demise.
congenital anomaly characterized by the fusion of the fingers or toes.
twin–twin transfusion syndrome (TTS)
the arterial blood of the donor twin pumps into the venous system of the receiving twin.
Chromosomal abnormalities
| ANOMALY | INFORMATION | SONOGRAPHIC FINDINGS | DIFFERENTIAL CONSIDERATIONS |
| Edward syndrome | Trisomy 1880% of cases display a clenched fistDecrease in AFP1:8000 live birthsOverall poor prognosis95% spontaneously abortFemale prevalence | Heart defectsChoroid plexus cystsClenched handsMicrognathiaClubbed or rocker bottom feetRenal anomaliesCleft lip and palateOmphaloceleEnlargement of the cisterna magnaMicrocephalySmall placentaTwo-vessel cordIntrauterine growth restriction (IUGR) | Trisomy 13Triploidy |
| Down syndrome | Trisomy 21Decrease in alpha-fetoprotein (AFP) levels1:800 live birthsCoexisting anomalies dictate overall prognosisApproximately 30% of cases demonstrate duodenal atresia | Subtle anomaliesNuchal fold ≥6 mmVentricular septal defectDuodenal atresiaBrachycephalyHyperechoic cardiac focusMacroglossiaHyperechoic bowelSandal toe deformityClinodactylyLow-set earsShort stature | Beckwith-Wiedemann syndrome |
| Patau syndrome | Trisomy 1390% of cases display cardiac defectsSyndrome of midline defects1:25,000 live birthsOverall poor prognosisMultiple anomalies, many involving the brain | HoloprosencephalyMicrocephalyCystic hygromaAbsent or small eyesFacial cleftsCardiac defectsOmphalocelePolycystic kidneysClubfootPolydactylyIUGRPolyhydramnios | Meckel-Gruber syndrome |
| Triploidy | Three complete sets of chromosomesMost will abort spontaneously1:5000 live births | Early onset IUGRHoloprosencephalyHypertelorismMicrognathiaMicrophthalmiaVentriculomegalyOligohydramnios2 vessel cordCardiac abnormalitiesClubfeetSyndactyly | Trisomy 13Trisomy 18 |
| Turner syndrome | 45 chromosomes, including a single X chromosomeElevated AFP levelsFemale fetus1:5000 live births | Cystic hygromaCardiac defectsRenal anomaliesCubitus valgusShort femursGeneral lymph edema | CephaloceleTrisomy 13Hydrops fetalis |
Fetal syndromes
• Demonstrate normal karyotype.
• Malformation refers to a defect of an organ that results from an intrinsically abnormal development process.
• Deformation refers to an abnormal form, shape, or position of a part caused by mechanical forces antenatally.
• Disruption is a defect of an organ resulting from the breakdown of previously normal tissue.
• Sequence refers to a pattern of multiple anomalies that result from a single anomaly or mechanical factor.
| SYNDROME | INFORMATION | SONOGRAPHIC FINDINGS | DIFFERENTIAL CONSIDERATIONS |
| Amniotic band syndrome | Ruptured amnion sticks and entangles fetal partsAssociated with fetal abnormalities and amputations | Thin hyperechoic linear structure floating within the amniotic cavityFetal abnormalities | SynechiaAmniotic chorionic separationLimb-body wall complexPlacental shelf |
| Beckwith-Wiedemann syndrome | Classic triad of macrosomia, omphalocele, and macroglossiaNormal karyotypeIncreases risk of developing Wilms’ tumor, hemihypertrophy, renal anomalies, and hepatosplenomegaly | HemihypertrophyMacroglossiaOmphalocele | Down syndrome |
| Eagle-Barrett syndrome | Prune belly syndromeHypotonic abdominal wall musclesAssociated with dilated fetal bladder, small thorax, and imperforate anus | HydronephrosisMegaureterOligohydramniosSmall thoraxLarge abdomenCryptorchidismHip dislocationScoliosis | Urinary obstructionUrethral atresia |
| Limb-body wall complex | Rare complex malformation caused by the failure of closure of the ventral body wall | Ventral wall defectCranial anomaliesMarked scoliosisLimb defectsShort umbilical cordAmniotic bands | Amniotic band syndromeTrisomy 13 |
| Two or more of the following | |||
| Meckel-Gruber syndrome | Lethal conditionOccurs equally in males and femalesAutosomal recessive | EncephaloceleInfantile polycystic renalsOligohydramniosBladder not visualizedPolydactyly | Trisomy 13Infantile polycystic disease |
| Pentalogy of Cantrell | Congenital disorder characterized by two out of the following major defects | Pulsating mass outside of the chest cavityOmphaloceleGastroschisis | Beckwith-Wiedemann syndromeAcardiac twin |
Hydrops fetalis
• An abnormal interstitial accumulation of fluid in the body cavities and soft tissues.
• Fluid accumulation may result in anasarca, ascites, pericardial effusion, pleural effusion, placentomegaly, and polyhydramnios.
• Hydrops may result from antibodies in the maternal circulation that destroy the fetal red blood cells (immune) or without evidence of blood group incompatibility (nonimmune).
• Sonography cannot differentiate immune from nonimmune hydrops.
| HYDROPS | CLINICAL FINDINGS | SONOGRAPHIC FINDINGS | DIFFERENTIAL CONSIDERATIONS |
| Immune | Rh sensitivity | Scalp edemaPleural effusionPericardial effusionPolyhydramniosPlacentomegaly | Nonimmune hydropsPleural effusion |
| Nonimmune | Large for dates | AnasarcaEdema or fluid accumulation in at least two fetal sitesAscitesScalp edemaPleural effusionPericardial effusionPolyhydramniosPlacentomegalyFetal tachycardia200-240 bpm | Immune hydropsPleural effusion |
Multifetal gestations
• Seventy percent of pregnancies beginning with twins will deliver a singleton pregnancy.
• Monozygotic twins result from a single fertilized ovum.
• Dizygotic twins result from two separate ova.
• Majority of pregnancies are dizygotic.
• Dizygotic pregnancies are always dichorionic/diamniotic.
• Label each fetus with Twin A closest to the internal os.
• IUGR is the most common cause of discordant growth in a dichorionic multifetal gestation.
• Twin–twin transfusion syndrome is the most common cause of discordant growth in a monochorionic multifetal gestation.
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