Chapter

chromosome abnormalities detected at prenatal diagnosis

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI: http://dx.doi.org/10.1093/med/9780195375336.003.0027

Series: Oxford Monographs on Medical Genetics

chromosome abnormalities detected at prenatal diagnosis

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THE MAIN FOCUS of chromosomal prenatal diagnosis has been upon trisomy 21, usually in the context of older childbearing age or of an increased-risk screening test. Trisomy 21 does remain, for most women and couples, the prime concern—the condition that most people are aware of—but with the modern ability to detect subtle imbalances on direct testing at chorionic villus sampling and at amniocentesis, the great majority of chromosomal imbalances are, in principle, diagnosable. And the increasing sophistication of screening methodologies (Chapter 24) has meant that a substantial fraction of chromosomally abnormal pregnancies are, these days, diagnosed prenatally.

Chapter.  32531 words.  Illustrated.

Subjects: Clinical Genetics

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