Prenatal screening/testing Flashcards
1
Q
What is the most common inherited disease in the AJ population?
A
Gaucher disease
2
Q
What is the quad screen pattern for a pregnancy affected with trisomy 18?
A
hCG, inhibin A, estriol, and AFP all low
3
Q
What is the quad screen pattern for a pregnancy affected with trisomy 21?
A
low: AFP, uE3
high: hCG, inhibin A
4
Q
What conditions should be considered when uE3 levels are very low?
A
Smith-Lemli-Opitz
Steroid sulfatase deficiency
