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Chapter 11 - Parental chromosome testing

Published online by Cambridge University Press:  05 October 2010

Roy G. Farquharson
Affiliation:
University of Liverpool
Mary D. Stephenson
Affiliation:
University of Chicago
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Summary

For many years, it has been good clinical practice to offer chromosome testing to women with recurrent miscarriage. This chapter addresses parental chromosome testing and describes couples carrying a structural chromosome abnormality ascertained through recurrent miscarriage work-up. Conventional parental chromosome testing is offered to couples after they have experienced recurrent miscarriage. If one of the partners carries a structural chromosome abnormality, products of conception can have a normal karyotype, the same karyotype as the carrier parent, or an unbalanced karyotype. The latter can lead to miscarriage, stillbirth or the birth of a child with major congenital impairments. Molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) are improving all the time and could play a role in the future in establishing submicroscopic chromosome abnormalities, resulting in another way of assessing abnormalities which play a role in couples with recurring miscarriage (RM).
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Early Pregnancy , pp. 91 - 102
Publisher: Cambridge University Press
Print publication year: 2010

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