Studies on Cerebral Lipidosis Prenatal Diagnosis of Tay-Sachs Disease

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Summary In the attempt to diagnose TSD, amniotic fluid was obtained by amniocentesis in a mother whose first child was TSD. Amniotic fluid and uncultured amniotic cells showed absence of hexosaminidase A. The fetus was diagnosed as TSD and the pregnancy was terminated through artificial abortion. Hexosaminidase A in the fetal brain and liver was deficient and an increase of ganglioside Gm2 was observed in the brain of the affected fetus.

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