Amniotic fluid cell culture for prenatal diagnosis of some metabolic diseases

Primary cultures of amniotic fluid cells were obtained. Optimal conditions of culture were determined and the mean incubation period was 17.9 days. Normal values for the activity of eight glycosidases, deficiency of which causes the development of inborn errors of metabolism, were obtained. On the basis of the results it is concluded that glycolipidoses (Tay-Sachs', Fabry's, and Gaucher's diseases, etc.) can be diagnosed prenatally. Data on the prenatal diagnosis of Tay-Sachs' disease are presented.Department of Medical Genetics, All-Union Research Institute of Obstetrics and Gynecology, Ministry of Health of the USSR, Moscow. Laboratory of Biochemistry and Pathochemistry of Carbohydrate Metabolism, Institute of Biological and Medical Chemistry, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR L. S. Persianinov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 89, No. 3, pp. 344–346, March, 1980.