Monday, February 6, 2012

Down syndrome (trisomy 21)

  1. Pregnancy quad screen:
    • Decreased: A-fetoprotein, Estriol (AE clearance)
    • Increase: B-hCG, Inhibin A (BI - double)
  2. Etiology:
    • Meiotic nondisjunction > Robertsonian translocation > Down mosaicism
  3. Associated defects:
    • Downedal (duodenal) atresia
    • Most frequent atrial septal defect: Septum-primum type

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