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Category: Obstetrics & Gynecology--->Preconception Counseling, Genetics, and Prenatal Diagnosis
Page: 2

Question 6#Print Question

A 30-year-old G1P0 at 8 weeks’ gestation presents for her first prenatal visit. She has no significant past medical or surgical history. A 29-year-old friend of hers just had a baby with Down syndrome and she is concerned about her risk of having a baby with the same problem. The patient reports no family history of genetic disorders or birth defects. 

You offer her a first trimester ultrasound looking for ultrasound markers associated with Down syndrome.

Which of the following ultrasound markers is most closely associated with Down syndrome?

a. Choriod plexus cyst
b. Ventriculomegaly
c. Increased nuchal translucency (NT)
d. Intracardiac echogenic focus
e. Echogenic bowel


Question 7#Print Question

A 30-year-old G1P0 at 8 weeks’ gestation presents for her first prenatal visit. She has no significant past medical or surgical history. A 29-year-old friend of hers just had a baby with Down syndrome and she is concerned about
her risk of having a baby with the same problem. The patient reports no family history of genetic disorders or birth defects.

In order to increase the detection rate for Down syndrome in the first trimester, you may also offer her which of the following tests in addition to the NT measurement?

a. α fetoprotein (AFP) serum screening
b. First trimester screen, which includes biochemical testing with serum markers PAPP-A and free or total β-hCG, along with maternal age
c. Amniocentesis
d. Inhibin level serum screening
e. Fetal echocardiogram


Question 8#Print Question

A 30-year-old G1P0 at 8 weeks’ gestation presents for her first prenatal visit. She has no significant past medical or surgical history. A 29-year-old friend of hers just had a baby with Down syndrome and she is concerned about her risk of having a baby with the same problem. The patient reports no family history of genetic disorders or birth defects.

The patient has an abnormal first trimester screen with increased risk of Down syndrome reported. What is the most appropriate next step?

a. Offer termination of the pregnancy
b. Tell the patient that the baby will have Down syndrome
c. Refer the patient to a high-risk specialist
d. Refer the patient to genetic counseling
e. Refer the patient to genetic counseling, and offer her diagnostic testing by CVS or a second-trimester genetic amniocentesis


Question 9#Print Question

A 20-year-old woman presents to your office for routine well-woman examination. She has a history of acne, for which she takes minocycline and isotretinoin on a daily basis. She has a history of epilepsy that is wellcontrolled on valproic acid. She also takes a combined oral contraceptive birth control pill containing norethindrone acetate and ethinyl estradiol. She is a nonsmoker but drinks alcohol on a daily basis. She is concerned about the effectiveness of her birth control pill, given all the medications that she takes. She is particularly worried about the effects of her medications on a developing fetus in the event of an unintended pregnancy.

Which of the following substances that she ingests has the lowest potential to cause birth defects?

a. Alcohol
b. Isotretinoin (accutane)
c. Tetracyclines
d. Progesterone
e. Valproic acid (Depakote)


Question 10#Print Question

A 24-year-old woman is in a car accident and is taken to an emergency room, where she receives x-ray examinations of her neck, chest, and lower spine. It is later discovered that she is 10 weeks pregnant.

Which of the following is the most appropriate statement to make to the patient?

a. The fetus has received 50 rads of x-ray exposure and will likely abort
b. Either chorionic villus sampling (CVS) or amniocentesis is advisable to check for fetal chromosomal abnormalities
c. At 10 weeks, the fetus is particularly susceptible to derangements of the central nervous system (CNS)
d. The fetus has received less than the assumed threshold for radiation damage
e. The risk that this fetus will develop leukemia as a child is raised




Category: Obstetrics & Gynecology--->Preconception Counseling, Genetics, and Prenatal Diagnosis
Page: 2 of 11