[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].
Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections).
D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002554:Cerebrosides; D005260:Female; D005696:Galactosidases / Q000172:deficiency; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011453:Prostaglandins
D002554:Cerebrosides; D011453:Prostaglandins; D005696:Galactosidases
Pränatale Diagnose der Globoidzell-Leukodystrophie (Morbus Krabbe)