PEDIATRICS Vol. 49 No. 3 March 1972, pp. 342-351
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THE FETAL ASPECTS OF TAY-SACHS DISEASE

Larry Schneck M.D.1, Masazumi Adachi M.D.1, and Bruno W. Volk M.D.1

1 Birth Defects Center of the Isaac Albert Research Institute, and the Kingsbrook Institute of Neurological Diseases of Kingsbrook Jewish Medical Center, Brooklyn, New York

Chemical studies were performed on three fetuse with Tay-Sachs disease. Only two chemical abnormalities were detected. One was the absence of hexosaminidase A activity in all tissues analyzed. The second was an increase in the percent of cerebral Gm2-ganglioside. In addition, abnormal inclusion bodies were seen in fetal neurons. These lipid cytosomes differed from the classical membranous cytoplasmic bodies seen in the postnatal state of Tay-Sachs disease. Screening of the Ashkenazi population and monitoring of high-risk pregnancies by amniocentesis is a means of reducing the incidence of Tay-Sachs disease.

Submitted on April 22, 1971
Accepted on September 28, 1971