% with trisomy 21
95%
% with Unbalanced translocation between 21 and another Acocentric Chr
3-4%
% with Mosaic Tri 21
1-2%
1st trimester screening
82-87% accurate. Measure Nuchal Folds + hGC + PAPP
2nd trimester screening
80% Accurate, Measire hCG + AFP + Unconjugated estriol + Inhibin Level (Quad Screen)
Both screens together
95% detection, can be confirmed via anmiocentesis and CVS
Cardiac Issues
Appx. 50%
Gastrointestinal Issues
Appx 10-15%. Constipation and GERD very common.
Hirshprungs, Esophageal and duodenal atresia
Hematologic Issues
12-20X increased risk of Leukemia
Alzheimers
Higher risk.. Also for depression and Autism (1/10)