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

Abstract

Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies 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.

PIP: Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease was studied. 2 pregnancies in families at risk for Pompe's disease were monitored using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells. In 1 pregnancy the fetus was judged to be affected and was confirmed after termination. In the other the fetus was judged not to be affected and was confirmed at 12 months of age. These results suggest that this assay for alpha-glucosidase activity on amniotic cells collected at amniocentesis and cultured for about 3 weeks allows accurate prenatal diagnosis of Pompe's disease.