Chapter

<i>Tay–Sachs disease</i>

Feige Kaplan and Charles R. Scriver

in Antenatal and Neonatal Screening

Second edition

Published in print November 2000 | ISBN: 9780192628268
Published online September 2009 | e-ISBN: 9780191723605 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780192628268.003.0006
Tay–Sachs disease

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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

Chapter.  9862 words.  Illustrated.

Subjects: Public Health and Epidemiology

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