Missed prenatal diagnosis of fragile‐X syndrome

Abstract

An account is given of a pregnancy in an obligatory carrier of the fragile-X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile-X chromosome. However, at 3 months of age he had 14 per cent of fragile-X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent.