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Chapter 27 - Genetic Disorders

Published online by Cambridge University Press:  26 January 2024

By
David J. Combs  and
Vesela P. Kovacheva
Edited by
David R. Gambling ,
M. Joanne Douglas  and
Grace Lim
David R. Gambling
Affiliation:
University of California, San Diego
M. Joanne Douglas
Affiliation:
University of British Columbia, Vancouver
Grace Lim
Affiliation:
University of Pittsburgh
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Summary

Genetic disorders commonly present or show severe manifestations early in life and in reproductive-age women. The impacts of such disorders in pregnancy are complex, often involving both mother and fetus. This chapter provides an overview of key concepts in genetics, focusing on the patterns of inheritance of monogenic disorders. The features and management of several common disorders are discussed, including alpha-1 antitrypsin deficiency, autosomal dominant polycystic kidney disease, Charcot Marie Tooth disease, Ehlers Danlos syndrome, Loeys-Dietz syndrome, glucose-6-phosphate dehydrogenase deficiency, Down syndrome, Turner syndrome, and mitochondrial disorders with a focus on management considerations, relevant for the practice of the obstetric anesthesiologist.

Keywords

geneticdominantrecessivepregnancyanesthesiaobstetric
Type
Chapter
Information
Obstetric Anesthesia and Uncommon Disorders , pp. 443 - 455
Publisher: Cambridge University Press
Print publication year: 2024

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