Amniotic cell 4 methylumbelliferyl α glucosidase activity for prenatal diagnosis of Pompe's disease

Abstract

Using a simple fluorometric assay for α glucosidase activity of cultured amniotic cells, we have monitored two postabortum), from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.