染色体芯片和HLPA技术对流产绒毛组织染色体异常检出的效果比较及不同来源样本检测结果分析  

Comparison1 of the effectssof chromosomal microarray and HLPA technology on the detection of chromosomal abnormalities in abortion villous tissues and analysis of the detection results of samples from different sources

作　　者：金玲[1] 武淑英 曹丹丹 Jin Ling;Wu Shuying;Cao Dandan(Department of Obstetrics and Gynecology,Beijing Haidian Hospital(Haidian Section of Peking University Third Hospital),Beijing 100080,P.R.China)

机构地区：[1]北京市海淀医院(北京大学第三医院海淀院区)妇产科,北京100080

出　　处：《中国计划生育和妇产科》2023年第12期60-64,共5页Chinese Journal of Family Planning & Gynecotokology

基　　金：吴阶平医学基金会临床科研专项资助基金(项目编号:320.6750.18460)。

摘　　要：目的比较染色体芯片和HLPA两种技术对流产绒毛组织染色体异常的检测效果,并分析不同来源样本染色体异常检出的差异,为产前诊断提供参考。方法分别采用染色体芯片和HLPA技术对采集的流产绒毛组织的DNA进行染色体异常的检测,同时根据样本来源分为胚胎停育组和早孕人流组,分析两组染色体异常情况的分布差异。结果110例样本中,染色体芯片检测技术的染色体异常检出率为45.5%,其中染色体数目异常41例(37.3%),染色体微缺失微重复9例(8.2%)。HLPA技术的染色体异常检出率为37.3%,均为染色体数目异常(41例)。在微缺失微重复检测方面,两种检测技术差异有统计学意义(P<0.01)。胚胎停育来源样本中,有37例被鉴定为染色体数目异常(56.1%),6例微缺失微重复(9.1%);早孕人流样本中,有4例染色体数目异常(9.1%),3例微缺失微重复(6.8%)。胚胎停育来源样本的染色体异常检出率与早孕人流来源样本的检出率差异有统计学意义(P<0.001)。结论染色体芯片技术和HLPA技术都可作为胚胎绒毛染色体检测的工具,相较于HLPA技术,染色体芯片技术对微缺失微重复检出率更高,且染色体异常在胚胎停育和早孕人流人群中分布及类型存在差异。Objective To compare the effects of chromosome microarray and HLPA on detecting chromosomal structure and number abnormalities in aborted villi tissue,and to analyze the differences in detecting chromosomal abnormalities in samples from different sources to provide reference for prenatal diagnosis.Methods Chromosome microarray and HLPA technology were used to detect the chromosome structure and variation of the DNA collected from the aborted villi tissue,and the distribution differences of chromosome abnormalities were analyzed by grouping the samples of embryo termination and early pregnancy abortion.Results Among the 110 samples,the abnormal detection rate of chromosome chip was 45.5%,of which 41 cases(37.3%)were detected with abnormal chromosome number and 9 cases(8.2%)with chromosome microdeletion and microduplication.The abnormal detection rate of HLPA was 37.3%,among them,41 cases(37.3%)had abnormal chromosome number.In the detection of chromosome microdeletion and microduplication,there was a significant difference between the two detection methods(P<0.O1).A total of 37 cases of abnormal chromosome number(56.1%)and 6 cases of chromosome microdeletion and microduplication(9.1%)were detected in embryo abortion samples;a total of 4 cases(9.1%)of abnormal chromosome number and 3 cases(6.8%)of chromosome microdeletion and microduplication were detected in early pregnancy abortion samples.The detection rate of chromosomal abnormalities differs significantly between samples from embryos with arrested development and samples from early pregnancy miscarriages(P<0.001).Conclusion Both chromosomal microarray technology and HLPA technology can be used as tools for chromosomal testing in embryonic villi.The detection rate of chromosome microarray is higher than that of HLPA in the detection of chromosome microdeletion and microduplication.Moreover,this study found that there were differences in the distribution and type of chromosomal abnormalities in embryo termination and early pregnancy abortion.

关 键 词：流产绒毛组织 染色体芯片 HLPA 染色体异常 胚胎停育 

分 类 号：R714.55[医药卫生—妇产科学]