Prenatal Genetic Diagnosis

Abstract

Glycogen-Storage DiseasesIn patients with Type II glycogenosis (Pompe's disease) alpha-1, 4-glucosidase activity is deficient in the liver,⁵⁰ leukocytes and cultured fibroblasts.^107,108 This enzyme has also been demonstrated in cultivated and noncultivated amniotic-fluid cells.¹⁰⁹ Nadler and Messina¹⁰⁹ and Cox et al.¹¹⁰ have reported the prenatal diagnosis of this disease in three cases. They demonstrated a deficiency of alpha-1, 4-glucosidase activity in cultured amniotic-fluid cells from known maternal heterozygotes. Alpha-1, 4-glucosidase is present in normal amniotic fluid, which can therefore be assayed directly for diagnostic purposes. Cox et al.¹¹⁰ pointed out that in this disorder, bloody contamination of amniotic fluid could . . .