Case Archive
Ref. # 97677

A Michigan woman was a known carrier of a congenital defect. She had a balanced translocation of chromosomes 13 and 5. While she herself was normal she was aware of the risk of having a child with an extra 5 and missing 13 chromosome. She became pregnant and sought genetics counseling specifically for chromosomal analysis. An ultrasound and Chorionic villus sampling (CVS) were performed and interpreted as normal. The baby was born with the abnormality and is severely handicapped. The family's attorney inquired whether a FISH study should have been performed. A medQuest OB/GYN specializing in genetics reported there was a negligent failure to request chromosomal material from the mother to compare it with that of the fetus. Due to this failure a FISH study would not have made a difference. The fetus' abnormality should have been discovered in a timely fashion.

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