Chapter

Prenatal Diagnostic Procedures

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/9780195375336.003.0025

Series: Oxford Monographs on Medical Genetics

Prenatal Diagnostic Procedures

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THE MEANS to diagnose the fetal karyotype have provided medical cytogenetics with one of its major areas of application. The discovery of an abnormality allows the option of termination of the pregnancy or, later in gestation, a more suitable obstetric management. The main indications for prenatal cytogenetic diagnosis are the following: (1) the pregnant woman being of advanced childbearing age, (2) parental heterozygosity for a chromosome rearrangement, (3) the birth of a previous child with a chromosome defect, (4) abnormal maternal blood biochemistry, and (5) fetal anomaly detected on ultrasonography.

Chapter.  5870 words. 

Subjects: Clinical Genetics

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