Paper Topic:

TAY SACHS DISEASE

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Ovid : Tay-Sachs Disease--Carrier Screening , Prenatal Diagnosis , and the Molecular Era : An International Perspective , 1970 to 1993

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Tay-Sachs Disease--Carrier Screening , Prenatal Diagnosis , and the Molecular Era : An International Perspective , 1970 to 1993 ISSN : 0098-7484Accession : Email JumpstartFind Citing Articles x226a Table of ContentsAbout this Journal x226b Author (s :Kaback , Michael Lim-Steele , Joyce Dabholkar , Deepti Brown , David Levy , Nancy Zeiger , Karen The International TSD Data Collection Network

Issue :Volume 270 (19 17 Nov 1993 pp 2307-2315 p

Publication Type :[Original Contributions]

Publisher :Copyright 1993 by the American Medical Association . All Rights Reserved . Applicable FARS /DFARS Restrictions Apply to Government Use . American Medical Association , 515 N . State St , Chicago , IL 60610

Institution (s :From the Department of Pediatrics and Reproductive Medicine , University of California , San Diego , and the Children 's Hospital and Health Center , San Diego , Calif A complete list of the International TSD Data Collection Network appears at the end of this article Reprint requests to the Department of Pediatrics and Reproductive Medicine , University of California , San Diego , Children 's Hospital and Health Center , 8110 Birmingham Way , San Diego , CA 92123 (Dr Kaback

Table of Contents x226a Original Contributions : Active Morbidity Surveillance After Hurricane Andrew--Florida , 1992 x226b DNA Diagnosis of Neurofibromatosis 2 : Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree .Search Results x226a Inborn Errors of Metabolism : A New Purview of Internal Medicine x226b Germ-Line Gene Modification and Disease Prevention : Some Medical and Ethical Perspectives LinksAbstract Complete Reference Outline Abstract METHODS Heterozygote Testing , Prenatal Diagnosis , and Disease Incidence Quality Controland Laboratory Surveillance RESULTS Carrier Screening Prenatal Diagnosis of TSD Impact on Disease Incidence Quality Control COMMENT The Model and Its Applicationto Other Diss Screening and the Delineation of Variant GM2 Storage Diss The Molecular Decade and TSD Testing Mutation Analysis Among Jews and Non-Jews Population Frequencies and Implications Why Is TSD in the Jewish Population ? CONCLUSIONS REFERENCES

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Table 1 Table 2 Figure 1 Table 3 Table 4 Table 5 Table 6 Table 7 Abstract

OBJECTIVES : To provide an update of the international experience with carrier screening and prenatal diagnosis for Tay-Sachs disease (TSD , to assess the impact of these efforts , and to review the recent developments in DNA technology with application to TSD carrier detection and screening

DESIGN : Through the International TSD Testing , Quality Control , and Data Collection Center , all testing centers in the world were surveyed annually to assess overall experience with carrier testing and prenatal diagnosis . Quality control and laboratory surveillance of testing centers were performed through an annual assessment , using samples provided by the center

SETTING : Tay-Sachs disease testing centers around the world

PARTICIPANTS : Nearly 1 million young adults from both Jewish and non-Jewish populations

INTERVENTION : Gene product screening (enzyme testing ) and DNA-based mutation analysis (in some populations

MAIN OUTCOME MEASURE : Impact of screening program on disease incidence

RESULTS : Data from all centers in the international TSD network on experience with TSD carrier testing and prenatal diagnosis since 1974 indicated that...

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