微阵列比较基因组杂交联合荧光定量聚合酶链反应检测自然流产组织结果分析

Array-based comparative genomic hybridization combined with quantitative fluorescence-polymerase chain reaction analysis of spontaneous abortion tissue

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。

Objective 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.