Play all audios:
ABSTRACT Just over one decade ago the metabolic error in TSD was identified - deficient activity of lysosomal hexosaminidase A. Further advances made the prenatal Dx of TSD and heterozygote
identification for this recessive trait possible. Since 1970, programs for community education, voluntary carrier screening, and genetic counseling (with prenatal Dx) have been initiated on
5 continents. Through the establishment of an international center for assay standardization, quality control, and program surveillance,* the experiences of 102 centers in 16 countries have
been surveyed. As of June 1980, 312,214 young Jewish adults have been screened. Nearly 13,000 heterozygotes have been identified and, importantly, 268 couples were identified as being
“at-risk” for this condition in their offspring. An heterozygote frequency in the American Jewish population of 0.034 (1 in 29.7) has been determined. Of 814 pregnancies monitored by
amniocentesis, 175 fetuses were identified with TSD. 636 unaffected infants were born as predicted. One child with TSD was misdiagnosed as unaffected in utero. Data concerning new cases of
TSD in the North American Jewish population indicate that the aforementioned efforts have contributed to a 70-85% decrease in the prevalence of this fatal neurodegenerative disorder in this
population. *Sponsored by National TSD and Allied Disorders Association ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Harbor-UCLA Medical Center, Torrance, 90509, California
Michael Kaback, Susan Greenwald & Rick Brossman Authors * Michael Kaback View author publications You can also search for this author inPubMed Google Scholar * Susan Greenwald View
author publications You can also search for this author inPubMed Google Scholar * Rick Brossman View author publications You can also search for this author inPubMed Google Scholar RIGHTS
AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Kaback, M., Greenwald, S. & Brossman, R. 1138 CARRIER DETECTION AND PRENATAL DIAGNOSIS IN TAY-SACHS DISEASE
(TSD): SUMMARY EXPERIENCE OF THE FIRST DECADE. _Pediatr Res_ 15 (Suppl 4), 632 (1981). https://doi.org/10.1203/00006450-198104001-01164 Download citation * Issue Date: 01 April 1981 * DOI:
https://doi.org/10.1203/00006450-198104001-01164 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is
not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative