Genomic imbalance in euploid pregnancy loss

• Published in: Journal of assisted reproduction and genetics 2022-09, Vol.39 (9), p.2115-2124
• Main Authors: Gu, Chongjuan, Li, Kuanrong, Li, Ling, Gao, Huan, Li, Ru, He, Yaojuan
• Format: Article
• Language: English
• Subjects: Aneuploidy; Copy number; Genetics; Genomics; Gestational age; Gynecology; Human Genetics; Medicine; Medicine & Public Health; Pregnancy; Reproductive Medicine; Uniparental disomy
• ISSN: 1058-0468; 1573-7330
• DOI: 10.1007/s10815-022-02527-8

Purpose This study aims to investigate genomic imbalance in euploid products of conceptions (POCs) detected by chromosomal microarray analysis (CMA) and its association with clinical characteristics. Methods In a retrospective cohort study where all women with singleton pregnancy losses underwent CMA detection of POCs, only patients with euploid POCs were included in the analysis. The clinical features were compared between those with and without a copy number variant (CNV). The pathogenic CNVs and the variant of uncertain significance (VOUS) were analyzed, and the common pathogenic CNVs and uniparental disomy (UPD) were investigated. Results A total of 610 POCs were detected as chromosomal euploid, of which 176 were euploid with CNVs and 434 were euploid without CNVs. Regarding maternal age, gestational age, and history of pregnancy loss, no significant differences were found between the two groups. Furthermore, 104 pathogenic CNVs were identified in 93 POCs, and the deletion of 8p23.3 was found in 10 subjects. All CNVs greater than 3 Mb and 39.5% of CNVs ranging from 1 to 2 Mb were pathogenic, and only 3 CNVs