Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post-abortion fetal tissues. In one case a residual acid a-glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi biopsy.