染色体微阵列分析(chromosomal microarray analysis, CMA)是一种通过对染色体进行全基因组扫描来筛查染色体数目和结构异常的检测技术,是儿科和产前遗传诊断的常规工具,已被应用于流产病因分析。本研究应用CMA技术在全基因组水平分析引起流产的染色体异常情况,并评估该技术在临床流产中的应用价值。对收集的2600例流产样本进行CMA技术检测,成功检测了2505例,成功率高达96.3%,其中1021例用CytoScan Optima芯片进行检测,1211例用CytoScan 750K芯片进行检测,273例用CytoScan HD芯片进行检测。利用这3种芯片共检出967例(38.60%)样本发生染色体异常,其中通过CytoScan Optima芯片检出506例(50.00%),CytoScan 750K芯片检出388例(32.00%),CytoScan HD芯片检出73例(26.74%)。在967例染色体异常中,有801例(82.83%)发生染色体数目异常,94例(9.72%)发生染色体结构异常,56例(5.79%)发生嵌合体,16例(1.65%)检出纯合区域。本研究结果表明,CMA可应用于临床流产物的遗传学诊断,是一种可靠、稳定、高分辨的技术,其检测结果能够对再生育风险评估提供指导。

Chromosomal microarray analysis (CMA) is a technique for screening numerical and structural abnormalities of chromosomes at the whole genome level. It is a routine tool for pediatric and prenatal genetic diagnoses. It has also been applied to investigate the genetic etiologies of miscarriages. In our study, we used the CMA technology to analyze the chromosomal variations of fetuses from miscarriages at the whole genome level, and to evaluate its clinical applications in studies of miscarriages. The CMA analyses were performed on 2600 miscarriage specimens, of which 2505 specimens (96.35%) were successfully analyzed. Among them, 1021 specimens were analyzed with CytoScan Optima chip; 1211 specimens were analyzed with CytoScan 750K chip; and 273 cases were analyzed with CytoScan HD chip. Chromosomal abnormalities were identified in 967 specimens (38.6%) by these 3 kinds of chips, of which 506 specimens (50.00%) were detected with CytoScan Optima chip; 388 specimens were detected by CytoScan 750K chip (32.00%); and 73 cases (26.74%) were detected in CytoScan HD chip. Among the 967 cases of chromosomal abnormalities, 801 cases (82.83%) were numerical chromosomal abnormalities; 94 cases (9.72%) were structural abnormalities; 56 cases (5.79%) were mosaicisms; and 16 (1.65%) were regions of homozygosity. Our research suggests that CMA is a reliable, robust, and high-resolution technology for genetic diagnosis of miscarriage in clinical practice, which can also provide results as guidance for the risk assessment of assisted fertility.