Prenatal screening/testing

Question 1

What is the most common inherited disease in the AJ population?

Answer 1

Gaucher disease

Question 2

What is the quad screen pattern for a pregnancy affected with trisomy 18?

Answer 2

hCG, inhibin A, estriol, and AFP all low

Question 3

What is the quad screen pattern for a pregnancy affected with trisomy 21?

Answer 3

low: AFP, uE3
high: hCG, inhibin A

Question 4

What conditions should be considered when uE3 levels are very low?

Answer 4

Smith-Lemli-Opitz

Steroid sulfatase deficiency