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Chapter 2 - The Patient Evaluation of the Future: Genetics, New Diagnostics, and Prediction Modeling

Published online by Cambridge University Press:  02 March 2020

By
Maurizio Poli ,
Monica Clemente ,
Carmen Rubio ,
Antonio Capalbo  and
Carlos Simon
Edited by
Alice D. Domar ,
Denny Sakkas  and
Thomas L. Toth
Alice D. Domar
Affiliation:
Boston IVF, Waltham, MA
Denny Sakkas
Affiliation:
Boston IVF, Waltham, MA
Thomas L. Toth
Affiliation:
Boston IVF, Waltham, MA
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Summary

Genetic risk is defined as the probability of a person (or couple) conceiving a pregnancy with genetic mutations or chromosomal abnormalities that would lead to a severe pathological condition. Genetic mutations are concealed in the genome of almost every person. Most of these mutations are harmless in single copy, but if present in homozygosis, they can lead to severe clinical outcomes. Often, couples carrying unidentified genetic mutations become aware of their dangerous mutations only after conception of an affected child.

Type
Chapter
Information
Patient-Centered Assisted Reproduction
How to Integrate Exceptional Care with Cutting-Edge Technology
 , pp. 11 - 22
Publisher: Cambridge University Press
Print publication year: 2020

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