染色体微阵列技术在自然流产病因诊断中的应用

Application of chromosomal microarray analysis for a cohort of Chinese patients with spontaneous miscarriage

目的探讨自然流产与染色体异常的关系以及染色体微阵列（chromosomalmicroarrayanalysis，CMA）技术在自然流产病因诊断中的应用价值。方法收集自然流产样本440例，对其进行CMA检测。结果在440例流产样本中，成功检测417例，成功率为94．7％。染色体异常的样本为209例（50．1％），其中染色体数目异常129例（61．7％），结构异常40例（19．1％），嵌合体38例（18．1％），纯合子区域2例（1．0％）。结论相较于染色体核型分析，CMA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。

Objective To explore the relationship between spontaneous miscarriage and chromosomal aberrations identifiable with chromosomal microarray analysis （CMA）. Methods A total of 440 product-of- conception were collected for the CMA testing. Results Four hundred and seventeen of 440 specimens （94. 7%） were successfully detected, among which 209 （50.1%） were chromosomal abnormalities. One hundred and twenty-nine （61.7 %） of the 209 specimens were numerical chromosomal abnormalities, 40 specimens （19.1%） were structural anomalies, 38 specimens （18. 1%） were mosaicisms, and 2 specimens （1.0%） showed regions of homozygosity. Conclusion CMA analysis of products-of-conception specimens can yield a higher diagnostic rate than conventional karyotyping. The identification of the cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies.