Chapter

<i>Down’s syndrome</i>

Nicholas Wald

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/9780192628268.003.0004
Down’s syndrome

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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

Chapter.  12256 words.  Illustrated.

Subjects: Public Health and Epidemiology

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