Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

Abstract

Zhen Xu,1– 3 Na Liu,1– 3 Lu Gao,1– 3 Dongyi Yu1– 3 1Center for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital, Affiliated to Qingdao University, Jinan, Shandong, 250000, People’s Republic of China; 2Shandong Medicine and Health Key Laboratory of Birth Defect Prevention and Genetic Medicine, Jinan, Shandong, People’s Republic of China; 3Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Jinan, Shandong, People’s Republic of ChinaCorrespondence: Dongyi Yu, Center for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital, Affiliated to Qingdao University, Jinan, Shandong, 250000, People’s Republic of China, Email [email protected]: The potential causes of miscarriage are very complex, including genetic, immune, infectious, and endocrine factors. 50%-60% of miscarriages are caused by chromosomal abnormalities. Chromosomal microarray analysis (CMA) is a key tool in this context, capable of detecting not only copy number variations (CNV) but also loss of heterozygosity (LOH). CMA has been used as a tool to investigate the genetic reasons for miscarriage.Methods: In our study, chromosomal microarray analysis (CMA) conducted 1220 miscarriage villous tissues. The results from this technology were used to identify the genetic reasons for miscarriage and evaluated strategies for subsequent pre-pregnancy planning.Results: Here, the abnormality rate of miscarriage was 56.07%(684/1220). The aneuploidy rate accounted for 81.14%(555/684), and was significantly higher in group > 35-year-old age. The second most common genetic reason for miscarriage was polyploidy, accounting for 10.09%(69/684). Additionally, we discovered loss of heterozygosity (LOH) in a small percentage of cases, accounting for 2.20%(15/684) reason for miscarriage genetic reasons, due to the advantage of CMA can detect isodisomy (a kind of uniparental disomy). 45 cases (6.58%) with copy number variants, which due to the CMA can detect copy number variations.Conclusion: Our study indicated that miscarriage villous tissues should be performed genetic analysis, seek help from professional genetic counseling.Keywords: chromosomal microarray analysis, miscarriage, loss of heterozygosity

Keywords

• chromosomal microarray analysis
• miscarriage
• loss of heterozygosity