Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies (original) (raw)

Hum Genet, 1987

Abstract

Galactosyl ceramide beta-galactosidase activity was determined in chorionic villi (CV) samples obtained between the 9th and 11th weeks of gestation from 5 women with pregnancies at risk for Krabbe's disease (globoid-cell leukodystrophy, KD). These enzyme activities were compared with those in controls, as well as with those in cultured amniotic fluid cells (AFC) from one of the five at-risk pregnancies and from 29 KD-risk pregnancies studied previously. The results of these CV enzyme analyses were such that one case of fetal KD was clearly diagnosable, one fetal genotype heterozygous for KD was presumed, and three normal fetal genotypes were suggested. The use of both uncultured and cultered CV can be recommended for prenatal KD testing, but AFC may continue to play an important role, too. Of the 58 prenatal KD tests we have evaluated since 1974, a positive diagnosis of Krabbe's disease was made (and confirmed after termination of pregnancy when feasible) in 23 which is significantly more than 25% of 58.

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