Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods

  • Abraham Saifer
  • Guta Perle
  • Carlo Valenti
  • Larry Schneck
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


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).


Amniotic Fluid Heat Denaturation Metachromatic Leukodystrophy Biochemical Screening Carrier Group 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Abraham Saifer
    • 1
  • Guta Perle
    • 1
  • Carlo Valenti
    • 2
  • Larry Schneck
    • 3
  1. 1.Department of BiochemistryIsaac Albert Research Institute of the Kingsbrook Jewish Medical CenterBrooklynUSA
  2. 2.Department of Obstetrics and GynecologyState University of New YorkBrooklynUSA
  3. 3.Downstate Medical Center and Department of NeurologyKingsbrook Jewish Medical CenterBrooklynUSA

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