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Antenatal and Neonatal Screening$
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Nicholas Wald and Ian Leck

Print publication date: 2000

Print ISBN-13: 9780192628268

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780192628268.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 16 June 2021

Tay–Sachs disease

Tay–Sachs disease

Chapter:
(p.139) 6 Tay–Sachs disease
Source:
Antenatal and Neonatal Screening
Author(s):

Feige Kaplan

Charles R. Scriver

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780192628268.003.0006

This chapter describes screening for Tay–Sachs disease (TSD) in pregnancy. TSD is an example of a fatal metabolic genetic disease which is rare but for which it is realistic to screen because cases occur primarily within a well-defined subpopulation on which biochemical testing can be focused. The primary screening test for TSD is to ask an individual whether he or she is Jewish or has a Jewish parent. The second screening test involves the measurement of heat-labile Hex A activity, from which carrier status can be inferred.

Keywords:   antenatal screening, antental diagnosis, tay–Sachs disease, metabolic genetic disease, jewish, hex A

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