Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease)

Summary A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside -galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.