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Chapter 16 - Genetic counseling and pre-natal diagnosis in hemophilia

from Section 5 - Hemorrhagic disorders

Published online by Cambridge University Press:  06 December 2010

Sue Pavord
Affiliation:
Leicester Royal Infirmary
Beverley Hunt
Affiliation:
Guy's and St Thomas' NHS Foundation Trust
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Summary

Hemophilia is the most common severe genetic bleeding disorder and presents significant risk to the fetus at delivery. Genetic counseling for hemophilia should encompass the issues of carrier testing and pre-natal diagnosis. Successful genetic counseling should be supportive and requires careful two-way discussion between families and healthcare professionals who are familiar with hemophilia management and with the techniques available for carrier testing and pre-natal diagnosis. For women from families with hemophilia, the probability that a pregnancy will yield a fetus that is a male with hemophilia can be calculated from the family pedigree using simple rules of Mendelian inheritance. Determining the probability of hemophilia carriership by pedigree analysis is essential for the genetic counseling process. Genetic counseling, carrier detection and pre-natal diagnosis should also be considered in families with heritable bleeding disorders other than hemophilia, which may also present bleeding risk to an affected fetus.
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Publisher: Cambridge University Press
Print publication year: 2010

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