Cell-free DNA screening at 11 weeks reports high risk for trisomy 21. Ultrasound shows no anomaly. The patient says she would consider pregnancy

Question

Cell-free DNA screening at 11 weeks reports high risk for trisomy 21. Ultrasound shows no anomaly. The patient says she would consider pregnancy termination if the diagnosis is confirmed. What is the best next step?

Accepted Answer

Offer genetic counseling and diagnostic chorionic villus sampling now

Answer

Perform the anatomy ultrasound and offer amniocentesis only if an anomaly appears

Answer

Obtain second-trimester serum screening before making a diagnostic decision

Answer

Repeat cell-free DNA screening with a new specimen before making a diagnostic decision

Answer

Perform nuchal-translucency ultrasonography before offering invasive diagnostic testing

Prenatal aneuploidy screening — USMLE Step 3 MCQ

Cell-free DNA screening at 11 weeks reports high risk for trisomy 21. Ultrasound shows no anomaly. The patient says she would consider pregnancy termination if the diagnosis is confirmed. What is the best next step?