Prenatal diagnosis of Zellweger's syndrome by chorionic villus sampling--and a caveat.

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.