CGC Prenatal Genetics & Reproductive Options 2

Question 1

Carrier screening for spinal muscular atrophy (SMA) is recommended for:

Accepted Answer

All individuals of reproductive age regardless of ethnicity

Answer

Current ACOG guidelines recommend expanded carrier screening, including SMA, for all individuals of reproductive age due to pan-ethnic prevalence.

Question 2

When both members of a couple are carriers for an autosomal recessive condition, the recurrence risk with each pregnancy is:

Accepted Answer

25%

Answer

When both parents are carriers for an autosomal recessive condition, each pregnancy has a 25% chance of being affected.

Question 3

A nuchal translucency (NT) measurement of ≥3.5 mm at 11–14 weeks is associated with increased risk for:

Accepted Answer

Chromosomal abnormalities and structural defects including cardiac anomalies

Answer

An increased NT is associated with a broad spectrum of chromosomal aneuploidies, structural anomalies, and genetic syndromes.

Question 4

Preimplantation genetic testing for monogenic conditions (PGT-M) requires which INITIAL step?

Accepted Answer

Identifying the specific familial pathogenic variant through proband testing

Answer

PGT-M requires knowledge of the exact familial variant so the laboratory can design a specific probe or analysis strategy for the embryo.

Question 5

A pregnant patient is found to have a fetal ultrasound showing an isolated echogenic bowel. This finding is associated with increased risk for which genetic condition?

Accepted Answer

Cystic fibrosis

Answer

Echogenic bowel is a soft marker associated with cystic fibrosis, as swallowed meconium in an affected fetus can appear echogenic on ultrasound.

CGC - Certified Genetic Counselor Practice Test

CGC - Certified Genetic Counselor Practice Test

CGC Prenatal Genetics & Reproductive Options 2