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Chapter 12 - Candidate Genes in Pregnancy Loss

Published online by Cambridge University Press:  16 April 2025

By
Evica Rajcan-Separovic
Edited by
Roy G. Farquharson ,
Mary D. Stephenson  and
Mariëtte Goddijn
Roy G. Farquharson
Affiliation:
Liverpool Women’s Hospital
Mary D. Stephenson
Affiliation:
University of Illinois, Chicago
Mariëtte Goddijn
Affiliation:
Amsterdam University Medical Centers
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Summary

This chapter will discuss the current state of miscarriage gene identification efforts using Chromosome Microarrays (CMA) and Next Generation Sequencing (NGS). CMA is an established clinical test for identifying genetic etiology of miscarriage with tens of thousands of cases reported. This allows finding hot-spots in the genome for copy number changes carrying candidate miscarriage genes as well as focusing on deeper analysis of individual genes within small CNVs. NGS studies for miscarriage candidate gene discovery and diagnosis are still relatively infrequent and include NGS of whole family, miscarriage only, couple only or women with recurrent pregnancy loss. Large scale integration of sequencing and CNV data in a pregnancy loss specific database, accompanied by obstetric and pathology findings is needed to facilitate identification of candidate genes and understanding of their role in adverse pregnancy outcome.

Keywords

chromosome microarrayexome sequencingmiscarriage
Type
Chapter
Information
Early Pregnancy , pp. 110 - 121
Publisher: Cambridge University Press
Print publication year: 2025

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