Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

染色体微阵列分析在流产组织遗传原因研究中的应用

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作者:Zhen Xu, Na Liu, Lu Gao, Dongyi Yu

Background

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.

Conclusion

Our study indicated that miscarriage villous tissues should be performed genetic analysis, seek help from professional genetic counseling.

Methods

In our study, chromosomal microarray analysis (CMA) conducted 1220 miscarriage villous tissues. The

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.

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