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Trisomy 18 - Edwards syndrome
Relevant markers:
Absent gallbladderAbsent radiusAortic valve stenosisBicuspid aortic valve (BAV)Bicuspid pulmonary valveBrachycephalyChoroid plexus cyst (CPC)Clenched hand/sClubhandDandy Walker malformationDislocated hip/sDouble outlet right ventricle (DORV)Early IUGR/SGAEctrodactyly/cleft of handsFacial cleftHorseshoe kidneyHypoplastic left ventricleHypoplastic thumb/sHypotelorismMega cisterna magnaMicrognathia/retrognathiaMild pyelectasis/hydronephrosisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligohydramniosOmphaloceleOverlapping fingersPolyhydramniosPosterior fossa cystProminent heelsPulmonary valve stenosisRadial ray defectsRhizomelia/short femurRocker-bottom feetShort long bonesShort radiusSingle umblical artery (SUA)Small/collapsed/absent stomachStrawberry signSymmetric IUGR/SGATalipesTetralogy of Fallot (TOF)Umbilical cord cystCephaloceleParents markers:Agenesis of corpus callosum (ACC)Ambiguous genitaliaAtrioventricular septal defect (AVSD)BrainCleftContractures/arthrogryposisEsophageal atresiaHeartHoloprosencephalyIntrauterine growth retardation (IUGR/SGA/FGR)Neural tube defectPosterior fossaShort limbsUrinaryVentricular septal defect (VSD)Ventriculomegaly
References: 2002 J Obstet Gynaecol Res Case series Read on PubMed 2011 Ultrasound Obstet Gynecol Case series Read on PubMed 2013 Ultrasound Obstet Gynecol Research (retrospective) Read on PubMed 2015 Sao Paulo Med J Retrospective case series Read on PubMed Login for more details.