[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].
Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.
D000032:Abortion, Therapeutic; D000649:Amniocentesis; D000650:Amnion / Q000166:cytology; D000653:Amniotic Fluid / Q000201:enzymology; D001921:Brain / Q000201:enzymology / Q000473:pathology; D002478:Cells, Cultured; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007525:Isoelectric Focusing; D007668:Kidney / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000032:analysis
D013429:Sulfatases
Pränatale Diagnose der metachromatischen leukodystrophie