Down's Synd % Flashcards
1
Q
% with trisomy 21
A
95%
2
Q
% with Unbalanced translocation between 21 and another Acocentric Chr
A
3-4%
3
Q
% with Mosaic Tri 21
A
1-2%
4
Q
1st trimester screening
A
82-87% accurate. Measure Nuchal Folds + hGC + PAPP
5
Q
2nd trimester screening
A
80% Accurate, Measire hCG + AFP + Unconjugated estriol + Inhibin Level (Quad Screen)
6
Q
Both screens together
A
95% detection, can be confirmed via anmiocentesis and CVS
7
Q
Cardiac Issues
A
Appx. 50%
8
Q
Gastrointestinal Issues
A
Appx 10-15%. Constipation and GERD very common.
Hirshprungs, Esophageal and duodenal atresia
9
Q
Hematologic Issues
A
12-20X increased risk of Leukemia
10
Q
Alzheimers
A
Higher risk.. Also for depression and Autism (1/10)
