Trisomy 21

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  • Nuchal Translucency: >3.5 mm in 1st trimester
  • Maternal Serum: decreased AFP and estriol, increased HCG and Inhibin A
  • Echogenic bowel
  • Short humerus and femur
  • Hydrops fetalis
  • Cystic hygroma
  • Atrioventricular septal defect
  • Duodenal atresia
  • Intracardiac echogenic focus (IEF) - calcification in papillary muscle, can be normal
  • Renal pelviectasis
  • Hypoplastic nasal bone

Nuchal thickening
Short Humerus
Cystic Hygroma
Atrioventricular septal defect
Intracardiac echogenic focus
Hypoplastic nasal bone