Systematic analysis of copy-number variations associated with early pregnancy loss.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
Yan WangZhengfeng Xu

Abstract

Embryonic numerical and structural chromosomal abnormalities are the most common cause of early pregnancy loss. However, the role of submicroscopic copy-number variations (CNVs) in early pregnancy loss is unclear, and little is known about the critical regions and candidate genes for miscarriage, because of the large size of structural chromosomal abnormalities. The aim of this study was to identify potential miscarriage-associated submicroscopic CNVs and critical regions of large CNVs as well as candidate genes for miscarriage. Over a 5-year period, 5180 fresh miscarriage specimens were investigated using quantitative fluorescent polymerase chain reaction/CNV sequencing or chromosomal microarray analysis. Statistically significant submicroscopic CNVs were identified by comparing the frequency of recurrent submicroscopic CNVs between cases and a published control cohort. Furthermore, genes within critical regions of miscarriage-associated CNVs were prioritized by integrating the Residual Variation Intolerance Score and the human gene expression dataset for identification of potential miscarriage candidate genes. Results without significant maternal-cell contamination were obtained in 5003 of the 5180 (96.6%) cases. Clinically s...Continue Reading

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Citations

May 27, 2020·Human Genetics·Matthew Hoi Kin ChauZirui Dong
Nov 20, 2020·Archives of Gynecology and Obstetrics·R GomezC Skala
Feb 20, 2021·Current Opinion in Obstetrics & Gynecology·Christina G Tise, Heather M Byers
Feb 24, 2021·Current Opinion in Obstetrics & Gynecology·Matthew Hoi Kin Chau, Kwong Wai Choy
Nov 13, 2020·Prenatal Diagnosis·Peter Benn
Nov 4, 2020·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·F QiaoZ Xu

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