[Prenatal diagnosis of Gaucher's disease (author's transl)]

Gaucher's disease type I was diagnosed prenatally in one case. Using radiomarked natural lipid substrate the enzyme defect was demonstrated in amniotic cells cultured after amniocentesis in the 16th week of pregnancy. Rest activity of cerebroside beta-glucosidase was around 6% of control activity. After termination of pregnancy in the 19th week the diagnosis was confirmed in the fetus by demonstration of lack of enzyme activity in fetal fibroblasts and liver tissue. Enzyme levels of cerebroside beta-glucosidase in blood leucocytes of the couple who decided on termination of the pathological pregnancy were found compatible with but no proving the heterozygote state of Gaucher's disease. In the future the enzyme defect of affected probands should be determined early and as precisely as possible.