摘要目的:应用微阵列比较基因组杂交（Array-CGH）联合荧光定量聚合酶链反应（QF-PCR）检测分析自然流产组织，探索该联合检测手段的特点与应用，进而为自然流产发生的遗传学因素提供参考。方法:采集2016年7月至2019年9月就诊于大连市妇女儿童医疗中心的345例自然流产患者的流产组织，并采用Array-CGH联合QF-PCR技术进行遗传变异情况检测，分析其检测结果。结果:QF-PCR技术共检测出染色体数目异常213例，Array-CGH技术补充检出染色体结构异常24例，综合遗传学异常检出率达到68.7%（237/345），并检测出本地区常见流产组织染色体异常类型。高龄孕妇（≥ 35岁）与非高龄组（<35岁）、孕早期孕妇（<10周）与非孕早期组（≥ 10周）流产组织染色体异常发生率比较显著增高[84.43%（141/167）比53.93%（96/178）、59.42%（205/284）比9.28%（32/61）]，差异有统计学意义（ P<0.01）。 结论:Array-CGH联合QF-PCR技术分析全面准确，互为补充。部分染色体异常在流产组织中较为常见，需重点检测分析。应对高龄孕产妇开展及时的产前遗传咨询与监测，对孕早期发生的流产警惕遗传学因素。

abstractsObjective:To detect and analyze the spontaneous abortion tissue by Array-based comparative genomic hybridization (Array-CGH) combined with quantitative fluorescence polymerase chain reaction (QF-PCR), and provide genetic guidance for spontaneous abortion prevention and prenatal testing.Methods:A total of 345 patients who were diagnosed with spontaneous abortion at Dalian Women′s and Children′s Medical Center between July 2016 to September 2019 were continuously collected. Array-CGH combined with QF-PCR technology was used to analyze and collect abortion tissues that met the inclusion criteria.Results:QF-PCR detected a total of 213 cases of abnormal chromosome number, and Array-CGH supplemented the detection of 24 cases of abnormal chromosome structure. The genetic abnormality detection rate reached 68.7% (237/345) , and common abortion tissues′ chromosomal abnormalities in this area were detected. The incidence of abortion tissues′ chromosomal abnormalities in the elder pregnant women (≥ 35 years) and earlier trimester pregnant women (<10 weeks) was significantly increased: 84.43% (141/167) vs. 53.93% (96/178), 59.42% (205/284) vs. 9.28% (32/61).Conclusions:Array-CGH combined with QF-PCR is comprehensive and complementary. Some karyotype abnormalities are more common in abortion tissues. The elder and earlier trimester pregnant women should accept genetic counseling.