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.
D000217:Acyltransferases / Q000172:deficiency*; D001706:Biopsy; D001927:Brain Diseases / Q000151:congenital / Q000175:diagnosis*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology / Q000473:pathology; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007674:Kidney Diseases / Q000151:congenital / Q000175:diagnosis*; D008107:Liver Diseases / Q000151:congenital / Q000175:diagnosis*; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013577:Syndrome
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase