Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling‐and a caveat

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Abstract
At 7·5 weeks gestation, two small chorionic villous biopsies were obtained from a woman at risk for Zellweger's cerebro‐hepato‐renal syndrome, and were separately established in culture. After 3 weeks, dihydroxyacetone phosphate acyltransferase (DHAP‐AT) activity was measured in both cultures. The enzyme was markedly deficient in one cell strain and this was subsequently shown to have a male karyotype. However, the second culture had normal enzyme activity and a female karyotype. The pregnancy was terminated at 11·5 weeks gestation, and follow‐up studies on fetal tissues confirmed a male fetus with markedly deficient DHAP‐AT activity.