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Expert Q&A

 

By David L. Fay, M.D.
Family Physician
Associate Director, Waukesha Family Practice Residency Program

I just came from my 20-week ultrasound and one twin checked out fine. The other twin has something showing in its heart that the doctor says increases the chances of Down syndrome by 30 percent. Can you tell me what the number would be then? (example: one in 100) I am 36 years old. They said it is nothing to worry about as a major heart problem and will not affect the baby's future.

I'm not sure whether your doctor means an absolute risk increase of 30 percent or a relative risk increase of 30 percent. Since your age-specific risk is one in 287, or 0.35 percent, the former would be 30.35 percent (one in three) and the latter would be 0.45 percent (one in 220). I would suspect it would be the latter. The most frequent cardiac anomaly in Down syndrome is atrial septal defect (ASD), a small hole in the upper chambers of the heart, which are usually of no consequence.

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