Abstract
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.
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