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

Only Ashkenazi Jewish individuals

Answer

Individuals with a family history of SMA only

Answer

Women over 35 years of age

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

100%

Answer

75%

Answer

50%

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

Neural tube defects only

Answer

Neural tube defects and Down syndrome only

Answer

Premature labor exclusively

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

Confirming the couple's carrier status via blood draw

Answer

Completing two rounds of IVF before analysis

Answer

Submitting a referral to a reproductive endocrinologist

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

Trisomy 13

Answer

Turner syndrome

Answer

Fragile X syndrome

Question 6

When counseling a couple for whom one partner is a carrier of an X-linked recessive condition, which reproductive outcome is CORRECT?

Accepted Answer

50% of sons will be affected and 50% of daughters will be carriers

Answer

All sons will be affected

Answer

All daughters will be affected

Answer

25% of all children will be affected