Deck 27: Prenatal Genetic Screening and Diagnosis

Question 1

Combined first-trimester screening (first-trimester maternal serum and fetal nuchal translucency) determines risk for

A) Neural tube defects (NTD)
B) Smith-Lemli-Opitz syndrome (SLOS)
C) Trisomies 18, 21
D) Trisomies 13, 21

Answer 1

C

Question 2

Prenatal patients with a fetal nuchal translucency assessment > 3 mm should be offered genetic counseling and diagnosis, targeted ultrasound, and fetal echocardiogram.

Answer 2

True

Question 3

Which of the following screening tests provides the highest detection rates for Down syndrome?

A) Combined first-trimester screen
B) Noninvasive prenatal testing
C) Quad marker
D) Sequential integrated screen

Answer 3

B

Question 4

Noninvasive prenatal testing analyzes maternal serum cell-free fetal DNA fragments circulating in maternal plasma.

Question 5

All pregnant women, regardless of age, should have the option of genetic screening or diagnostic testing.

Question 6

Chorionic villus sampling may be performed between which weeks of gestation?

A) 8 and 12
B) 9 and 13
C) 10 and 14
D) 11 and 15

Question 7

The procedure-related loss for amniocentesis is:

A) 1 in 100-300
B) 1 in 300-500
C) 2 in 100-300
D) 2 in 300-500

Question 8

Rh-negative nonsensitized women do not need Rh(D) immune globulin (RhoGam) administration following CVS or amniocentesis.

Question 9

Routine prenatal laboratory testing for hemoglobinopathies (hemoglobin electrophoresis and MCV) is an example of what type of genetic testing?

A) Carrier screening for recessive conditions
B) Combined first-trimester prenatal genetic screening
C) Diagnostic testing for inherited disease

Question 10

The key components of counseling a woman who has a positive diagnostic genetic test include the following: provide accurate and balanced information, arrange for a private setting for counseling, use the woman's preferred language, and communicate your expert opinion about what course of action she should take.

Question 11

M.M. is a 37-year-old primagravida who is seeing you for her first prenatal visit at 16 weeks gestation. She is interested in genetic diagnostic testing. Which of the following tests would you offer her?

A) Amniocentesis
B) Chorionic villus sampling
C) Combined integrated screening test
D) Nuchal translucency ultrasound
E) All of the above