PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM(2)-gangliosidosis was carried out. The biochemical study of the cu ltured amniocytes and the affected fetal brain is reported. The result s obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulatio n of GM(2)-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM(2)-gangliosidosis (0 variant) was compared.