Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects

We report on the early prenatal diagnosis of fetal Gaucher disease type 2 b y ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previousl y been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops feta lis and also stress that minimal and precocious echographic signs can be su ggestive of such a lysosomal storage disease. Copyright (C) 2000 John Wiley & Sons, Ltd.