Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods
Tay-Sachs disease, an invariably fatal cerebral storage (GM2-ganglioside) disorder inherited as an autosomal recessive trait, is presently the only such genetic disease which possesses all three criteria necessary to prevent the birth of homozygotes. These criteria are:- (a) The characterization of a well-defined, high risk group in the general population which carries the defective gene, e.g., Ashkenazi Jews in the United States (1). (b) A simple, quantitative biochemical test, preferably based upon the analysis of the deficient enzyme, which will permit the detection of the heterozygotes in the normal population and the isolation of the high-risk carrier-couples, e.g., the assay of hexosaminidase A in serum (2) or white blood cells (3,4) with fluorimetric procedures. (c) The prenatal diagnosis of the disease by enzymatic analysis of the amniotic fluid or cells obtained from the fetuses of carrier-couples sufficiently early to give the parents the choice of safely terminating the pregnancy(5).
KeywordsAmniotic Fluid Heat Denaturation Metachromatic Leukodystrophy Biochemical Screening Carrier Group
Unable to display preview. Download preview PDF.
- 1.Aronson, S.M., Epidemiology. In Tay-Sachs Disease, Volk, B.W., Ed. New York, Grune and Stratton, 1964, pp 118 - 153.Google Scholar
- 3.Padeh,B., and Navon,R., Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Israel J. Med. Sci. 7, 259 (1971).Google Scholar
- 5.Schneck, L., Valenti,C., Amsterdam, D., Friedland, J., Adachi,M., and Volk,B.W., Prenatal diagnosis of Tay-Sachs disease. Lancet 1, 582 (1970).Google Scholar
- 12.Friedland, J., Perle,G., Saifer,A., Schneck, L., and VO1k,B.W., Screening for Tay-Sachs disease in utero using amniotic fluid. Proc. Soc. Exp. Biol. and Med. 136, 1297 (1971).Google Scholar
- 14.Stirling,J.L., A new form of N-acetyl-(3-glucosaminidase present in pregnancy serum. Biochem. J. 120, llp (1971).Google Scholar