Deck 3: Prenatal Genetics

Question 1

Which statement is correct concerning prenatal screening?

A) Chromosome analysis is the gold standard for prenatal screening
B) Prenatal screening includes Chorionic Villus Sampling
C) Prenatal screening includes Ultrasound
D) Prenatal screening is diagnostic
E) Residual risk is calculated during prenatal screening

Answer 1

C
Explanation: Prenatal screening includes ultrasound and is not a diagnostic testing method

Question 2

Which of the following does not screen/test for ONTDs?

A) Chorionic Villus Sampling
B) Integrated Screen
C) Maternal Serum Screening
D) Sequential Screen
E) Quad Screen

Answer 2

A
Explanation: Chorionic Villus Sampling does not test for ONTDs therefor maternal serum alpha-fetoprotein is recommended for patients who have CVS.

Question 3

How is first trimester ultrasound used as a genetic screen?

A) Analyzes various analytes
B) Checking amniotic fluid volume
C) Checking placental position
D) Detecting large chromosome deletions or duplications
E) Measuring nuchal translucency

Answer 3

E
Explanation: As a genetic screen, first trimester ultrasound measures the nuchal translucency.

Question 4

Which of the following aneuplidies is not analyzed via FISH

A) Klinefelter syndrome
B) Trisomy 13
C) Trisomy 18
D) Trisomy 21
E) Trisomy 23

Question 5

ACOG guidelines recommend that all women, regardless of ethnicity, be offered carrier screening for?

A) Cystic Fibrosis
B) Familial hyperinsulinism
C) Hereditary breast cancer
D) Huntington's disease
E) Maple syrup urine disease

Question 6

Which is not an analyte involved in Maternal Serum Screening?

A) AFP
B) cfDNA
C) hCG
D) inhibin
E) uE3