Trisomy 21 - Down Syndrome 

General Features
General information/Sensitivity of markers

Karyotype
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Neck

   *  Thick nuchal fold / Nuchal edema

   *  Increased nuchal translucency

  *  Crown-rump length - normal

  *  Non-immune hydrops,  hydrothorax
  *  Cystic hygroma uncommon.

 

Extremities

  * Shortened femur and  humerus
  * Clinodactyly + hypoplasia of
     middle phalanx of 5th digit
  * Simian crease
  * Sandal foot (45%) /  May be a normal variant

- Craniofacial Anomalies
  * Maxillary hypoplasia
  * Brachycephaly
  * Short nasal bone
  * Macroglossia

Gastrointestinal Anomalies
  * Duodenal atresia
  * Esophageal atresia
  * Anorectal atresia
  * Echogenic bowel
  * Omphalocele

Central Nervous System Anomalies
  * Ventriculomegaly
  * Dandy Walker Variant

Cardiac Anomalies (50%)
  * ASD
  * VSD
  * AV Canal
  * Echogenic intracardiac focus
  * Fetal Heart Rate

  * LV / RV disproportion.

Genitourinary
  * Renal pelvis dilatation (pyelectasis)

Pelvis

IUGR.

Non-lymphoblastic leukemic reaction
  (hepatosplenomegaly)

Genetic Sonogram

Genetic Sonogram Template