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Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses
Yan-Ran Sheng1, Shun-Yu Hou2, Wen-Ting Hu1
1Laboratory for Reproductive Immunology, Hospital of Obstetrics and Gynecology, Fudan University, Shanghai 200000, China.
Genes
|January 27, 2021
Summary
Embryonic chromosomal abnormalities are common in miscarriages. This study found specific copy-number variations (CNVs) linked to recurrent pregnancy loss (RPL), offering potential genetic markers for screening.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Genomic Medicine
Background:
- Embryonic chromosomal abnormalities cause 50% of early pregnancy losses.
- Limited understanding exists regarding differences in chromosomal abnormalities between sporadic abortion (SA) and recurrent pregnancy loss (RPL).
- The role of submicroscopic copy-number variations (CNVs) in SA and RPL is largely unknown.
Purpose of the Study:
- To systematically evaluate the role of embryonic chromosomal abnormalities and CNVs in the etiology of RPL compared to SA.
- To identify specific genetic markers associated with recurrent pregnancy loss.
Main Methods:
- Investigated 1556 fresh products of conception (POCs) using single nucleotide polymorphism array (SNP-array) and CNV sequencing (CNV-seq).
- Performed functional enrichment analysis on identified variations.
- Compared incidence and distribution of chromosomal abnormalities and CNVs between SA and RPL groups.
Main Results:
- Chromosomal abnormalities were detected in 57.52% of all cases.
- Identified 346 CNVs in 173 cases, including duplications and deletions.
- Found duplications in 16q24.3 and 16p13.3 were significantly more frequent in RPL cases, suggesting an association with RPL.
Conclusions:
- Specific CNVs, particularly duplications in 16q24.3 and 16p13.3, are associated with recurrent pregnancy loss.
- Identified 213 potential RPL candidate genes and 131 signaling pathways.
- Results may improve understanding of RPL etiology and aid in developing diagnostic genetic screening panels for Chinese women.
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