Prenatal diagnosis of Wolman's disease.
Amniocentesis was performed in the 15th week of a pregnancy at risk for Wolman's disease. The cultured amniotic fluid cells were found to have a severe deficiency of acid esterase activity consistent with homozygosity of the fetus. The pregnancy was terminated in the 19th week and the prenatal diagnosis confirmed by enzymic and chemical evaluation of the fetal tissues.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D002478:Cells, Cultured; D004950:Esterases / Q000172:deficiency*; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D011247:Pregnancy
D004950:Esterases