May 13, 1974

Amniocentesis in Tay-Sachs Disease

Author Affiliations

Queens Hospital Center Jamaica, NY

JAMA. 1974;228(7):829. doi:10.1001/jama.1974.03230320017016

To the Editor.—  Tay-Sachs disease is an inborn metabolic disorder, essentially peculiar to Jews, consisting of deficiency or absence of hexosaminidase A. The disease is invariably fatal, usually before 2 or 3 years of age. The carrier or heterozygous state occurs in approximately 1 in 30 Ashkenazi Jews, and is a harmless condition. If two carriers marry, the statistical probability is that one quarter of the offspring will have the full-blown fatal disease, one half will be carriers like the parents, and one quarter will be totally free of the Tay-Sachs gene, according to simple Mendelian genetics.Widespread screening for the carrier state has been undertaken in the United States1 and the United Kingdom.2 Many laboratories are now offering to carry out tests for the prenatal diagnosis of Tay-Sachs disease by the application of amniocentesis. If the fetus is determined to have Tay-Sachs disease, an abortion is then