Trisomy 21 - Down syndrome

Trisomy 21 - Down syndrome Relevant markers:

Aberrant right subclavian artery (ARSA)Abnormal maxilla–nasion–mandible (MNM) angle (<5th percentile)Anal atresiaAtrial septal defect (ASD)Balanced atrioventricular septal defect (AVSD)Borderline ventriculomegaly (10-12 mm)BrachycephalyCataractChorioamniotic separationChoroid plexus cyst (CPC)Clinodactyly 5th fingerCoarctation of aortaDouble bubbleEbstein's anomalyEchogenic bowelFlat faceFlat occiputGoitreHydropsHypoplastic noseHypospadias/tulip signLow nasal bridgeLow set ear/sMacroglossiaMega cisterna magnaMicrognathia/retrognathiaMicropenisMild microcephalyMissing rib/sNasal bone hypoplasia / aplasiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePortosystemic shuntPositive fetal proﬁle (FP) linePosterior fossa cystPrefrontal space ratio (PFSR) < 5th percentilePrenasal thickness > 95th percentilePrenasal thickness-to-nasal bone length (PT-NBL) ratio > 95th percentileRhizomelia/short femurRhizomelia/short humerusSandal gapSmall/collapsed/absent stomachTetralogy of Fallot (TOF)Tracheo-esophageal fistula (TEF)Wide iliac wings

Parents markers:

Agenesis of corpus callosum (ACC)Atrioventricular septal defect (AVSD)EarsEchogenic fociHipsKidneysPyelectasis/hydronephrosisShort limbsVentricular septal defect (VSD)VentriculomegalyEchogenic lung/s

References:

2003	Am J Med Genet A	Case report (2 cases)	Read on PubMed
2005	Prenat Diagn	Case series of 5 cases (echogenic lungs)	Read on PubMed
2013	Ultrasound Obstet Gynecol	research (retrospective)	Read on PubMed
2014	Ultrasound Obstet Gynecol	Research article	Read on PubMed
2015	BMJ Case Rep	Case report	Read on PubMed
2015	Eur J Obstet Gynecol Reprod Biol	Research article (PT/NBL)	Read on PubMed
2015	Ultrasound Obstet Gynecol	Research article (facial features)	Read on PubMed
2015	Ultrasound Obstet Gynecol	Research article (facial features)	Read on PubMed