染色体微阵列技术在复发性流产病因诊断中的应用

Application of chromosomal microarray analysis in etiological diagnosis of recurrent spontaneous abortion

摘要:

目的 探讨自然流产与胚胎遗传学异常的关系以及染色体微阵列（CMA）技术在复发性流产病 因诊断中的应用价值。方法 选择2015 年9 月-2017 年6 月南京医科大学附属常州妇幼保健院就诊的自然流 产患者61 例，流产次数≥ 2 次，收集其胚胎绒毛组织样本进行CMA 遗传学检测。结果 全部61 例组织样本 均成功获得CMA 遗传学检测结果，其中染色体异常者36 例（59.0%），包括31 例染色体数目异常（86.1%）， 4 例染色体结构异常（11.1%），1 例单亲二倍体（2.7%）。结论 CMA 技术可以快速、简便地检测出流产组织 染色体异常，其应用可为流产物检测提供更全面的信息，为患者的病因诊断和再生育风险评估提供指导。

Abstract:

Objective To investigate the relationship between spontaneous abortion and embryo genetic abnormalities and the value of chromosome microarray analysis (CMA) in the diagnosis of recurrent spontaneous abortion. Methods There were 61 cases with recurrent spontaneous abortion ( ≥ 2) accepted in Changzhou Maternity and Child Health Care Hospital from September 2015 to June 2017. Chorionic villi were collected from embryos for CMA. Results CMA results were successfully obtained in all 61 cases of abortion samples. There were 36 cases of chromosome abnormality (59.0%), of which 31 cases had abnormal chromosome number (86.1%), 4 cases had abnormal chromosome structure (11.1%), and 1 case had uniparental diplont (2.7%). Conclusions CMA technique can quickly and easily detect chromosomal abnormalities of abortion tissues. It can provide more comprehensive information for abortion detection, and provide guidance for the etiological diagnosis and fertility risk assessment.