Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.
Chorion biopsy specimens were used for prenatal assay of arylsulphatase A activity in a pregnant woman whose two children had died from metachromatic leukodystrophy (MLD). As in two subsequent pregnancies chorion arylsulphatase A was in the control range, it was concluded that both fetuses were healthy. Absence of MLD in the fetus from the first pregnancy was confirmed after assay of arylsulphatase A activity in fetal organs. The second pregnancy resulted in delivery of a healthy child.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology*; D001706:Biopsy; D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000378:metabolism*; D002823:Chorion / Q000201:enzymology*; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000378:metabolism*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase