Preconception Flashcards
1
Q
What diseases are associated with being Ashkenazi jewish?
A
Fanconi anemia, Tay-Sachs disease, Cystic Fibrosis, and Niemann-Pick disease
2
Q
Women with uncontrolled diabetes are at highest risk of developing…
A
structural abnormalities
3
Q
What is the most sensitive test for trisomy 21?
A
Sequential screen: (first trimester NT and PAPP-A + second trimester quad screen)
– 93% Detection Rate
4
Q
The most common cause of inherited mental retardation is…
A
fragile X syndrome
