Obstetrics & Gynecology>>>>>Preconception Counseling, Genetics, and Prenatal Diagnosis
Question 8#

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

Correct Answer is E

Comment:

The patient should be referred for genetic counseling and offered a diagnostic test such as CVS or amniocentesis. Genetic counseling alone is not adequate, and referral to a high-risk specialist is not indicated at this time. The patient should not be told that the baby has Down syndrome, as the first trimester screen has a 5% false positive rate, and requires follow-up diagnostic testing. The patient should not be offered termination at this point, but it would be reasonable to offer termination if diagnostic testing confirmed Down syndrome.