DIAGNOSIS AND PRENATAL DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES

A series of laboratory diagnostic tests for lysoso-mal storage diseases (LSD), including screening test,specific enzyme assays, and :LS04 incorporation testwere set up. This paper reports 7 pregnancies atrisk for various lysosomal storage diseases prenatallydiagnosed by amniocentesis in the second trimester.In pregnancies at risk for Tay-Sachs disease, mucoli-pidosis III and Niemann-Pick disease, the prenataldiagnosis was made by enzyme assay of culturedamniotic fluid cells. The 3 pregnancies at risk formucopolysaccharidosis were diagnosed by the .r'SO/.incorporation test. According to our experience,enzyme assay of cultured amniotic fluid cells is reliable and accurate in the prenatal diagnosis of LSD.