CNV结合STR分型技术检测孕早期流产组织潜在葡萄胎效果及风险因素分析  

Effect of copy number variation sequencing combined with short tandem repeat typing technique in detecting the potential molar pregnancy in the early pregnancy loss tissue and the risk factor

作　　者：孙艳 文晓燕 刘风藏 王桂琦[3] SUN Yan;WEN Xiaoyan;LIU Fengzang;WANG Guiqi(Shijiazhuang Maternal and Child Health Care Hospital,Hebei Province,050000;Hebei Medical University;The First Hospital of Hebei Medical University)

机构地区：[1]河北省石家庄市妇幼保健院,050000 [2]河北医科大学 [3]河北医科大学第一医院

出　　处：《中国计划生育学杂志》2024年第1期222-226,共5页Chinese Journal of Family Planning

基　　金：河北省卫生健康委员会(20211464)。

摘　　要：目的:评估基因组拷贝数变异测序(CNV-seq)结合短串联重复序列(STR)多态性分析技术在检测孕早期(≤9周)流产物组织中潜在葡萄胎病例的应用效果.方法:收集2021年1月-2022年12月行孕早期流产组织CNV-seq结合STR多态性检测病例114例,其中部分新鲜绒毛组织进行CNV-seq结合STR多态性检测,部分组织行病理学检测.比较两种检测方法结果,并分析潜在葡萄胎病例的临床特征和影响因素.结果:CNV-seq结合STR多态性检测共检出染色体异常病例28例,阳性率为24.6%,其中单亲二倍体(UPD)8例,占阳性病例28.6%;病理学检出葡萄胎病例12例,阳性率为10.5%,其中完全性葡萄胎(CHM)10例,占阳性病例的83.3%.两种检测方法的结果一致率为89.5%,Kappa值为0.75,两种方法具较好一致性.潜在葡萄胎病例与非葡萄胎病例在年龄、孕次、流产次、β-hCG水平、超声表现等方面有差异,其中年龄、β-hCG水平和超声表现是潜在葡萄胎危险因素(均P<0.05).结论:CNV-seq结合STR多态性分析技术能有效检测孕早期流产物组织中潜在葡萄胎病例,有助于指导临床治疗和避免再次流产.Objective:To evaluate the application efficacy of copy number variation sequencing(CNV-seq)combined.with short tandem repeat(STR)polymorphism analysis technique in detecting the potential molar pregnancy cases ir the tissue of the early pregnancy loss(≤9 gestational weeks).Methods:A total of 114 early pregnancy loss tissucs.from January 2021 to December 2022 were ollected for CNV-seq combined with STR polymorphism testing,including the fresh chorionie villus tissues that underwent CNV-seq combined with STR polymorphism testing and the remaining tissues underwent routine pathological histology testing.The results of the two detection methods were compared,and.the elinical features and the influencing factors of the patients with potential molar pregnancy were analyzed.Results:There were 28 cases with chromosomal abnormalities found by CNV-seq combined with STR polymorphism detection,with a positive rate of 24.6%,of which,8 cases were uniparental disomy(UPD),accounting for 28.6%of the positive cases.A total of 12(10.5%)cases with bydatidiform moles detected by pathology,including 10 cases with complete hydatidiform moles(CHM),accounting for 83.3%of the positive cases.The consistency rate of the CNV-seq combined with STR polymorphism detection and the pathology was 89.5%。the Kappa walue of which was 0.75,and the two methods had better consistency.There were significant differences in the age,the gravidity,the number of abortions,the 8-hCG level,and the ultrasonographic results between the cases with and without potential bhydatidiform mole.The Age,theβ-hCG level and the ultrasonographic results of the patients were the risk factors of their potential hydatidiform mole occurrence(all P<0.05).Conclusion:CNV-seq combined with STR polymorphism analysis technique used for detecting the early pregnancy loss tissucs can help to find the potential hydatidiform mole of the patients,which can guide the clinical treatment and avoid reabortion.

关 键 词：孕早期流产 葡萄胎 基因组拷贝数变异测序 短串联重复序列多态性分析技术 危险因素 

分 类 号：R714.21[医药卫生—妇产科学]