Genetics and Preconception

Question 1

Omphaloceles and neural tube defects are associated with increase in what serum value?

Answer 1

MSAFP - maternal serum alpha fetoprotein

Question 2

Chorionic villus sampling is done ___ weeks, and is used to analyze: (1), (2), (3).

Answer 2

10-12 weeks

(1) chromosomal abnormalities
(2) Biochemical
(3) DNA-based tests for mutations associated with CF

Question 3

Cell-free DNA screening has ___ detection rate and ___ false-positive rate

Answer 3

99%

0.2%

Question 4

What is the first trimester combined test

Answer 4

first trimester nuchal translucency + PAPP-A + Beta-hCG

85% detection

Question 5

What is included in the triple screen?

Answer 5

second trimester AFP, beta-hCG, uncongugated estriol

69% detection rate

Question 6

What is included in the quad screen?

Answer 6

Second semester triple screen + inhibin A

81% detection

Question 7

What is included in the sequencial screen?

Answer 7

first trimester nuchal translucency + PAPP-A + second trimester quad screen
(93% detection)

Question 8

What is the most common form of inherited intellectual developmental disability

Answer 8

Fragile X