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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: 19 June 2021

Down’s syndrome

Down’s syndrome

(p.85) 4 Down’s syndrome
Antenatal and Neonatal Screening

Nicholas Wald

Oxford University Press

This chapter discusses screening and diagnosis for Down's syndrome. Down's syndrome is the most common cause of severe mental retardation. The disorder can be diagnosed antenatally by examining the chromosomes in fetal cells from amniotic fluid or the placenta. The birth prevalence of Down's syndrome is associated with maternal age and various biochemical and ultrasound markers. Screening methods based on maternal age and these markers can be used to identify women with a high enough risk of having an affected pregnancy to be offered a diagnostic amniocentesis or chorionic villus sampling.

Keywords:   down's syndrome, antenatal screening, antenatal diagnosis, chorionic villus sampling, amniocentesis

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