二代测序技术在流产物染色体拷贝数改变检测中的应用  

Application of next-generation sequencing in detecting chromosome copy number variations in abortuses

作　　者：梅瑾 王昊 王敏 何茶英 MEI Jin;WANG Hao;WANG Min(Department of Prenatal Diagnosis Centre,Hangzhou Women’s Hospital,Hangzhou 310008,China)

机构地区：[1]杭州市妇产科医院(杭州市妇幼保健院)产前诊断中心,310008 [2]杭州市妇产科医院(杭州市妇幼保健院)妇科,310008

出　　处：《浙江医学》2020年第2期114-117,共4页Zhejiang Medical Journal

基　　金：浙江省医药卫生科技计划项目（2017KY552）;杭州市医药卫生科技重点项目（0020190616）;杭州市社会发展自主申报项目（20160533B37）

摘　　要：目的探讨二代测序技术(NGS)在流产物染色体拷贝数改变检测中的应用价值。方法选取不明原因流产和死胎的孕妇639例,应用NGS对绒毛或胎儿样本进行全基因组测序,并作染色体拷贝数改变分析。结果630例孕妇完成NGS检测,其中315例检出整条染色体改变和(或)拷贝数改变,检出率为50.00%。250例涉及整条染色体增减或改变,包括单体64例,三体169例,三倍体1例,复合三体9例,性染色体单体和(或)三体嵌合体7例;65例为染色体片段的拷贝数改变,其中明确致病性30例,可能致病性5例,临床意义不明确的23例,可能良性4例,良性3例。≥35岁组和<35岁组孕妇整条染色体增减或改变检出率分别为44.87%和38.95%,致病性染色体片段拷贝数异常检出率分别为5.13%和5.62%,两组比较差异均无统计学意义(均P>0.05)。结论NGS在流产物临床遗传学诊断中有较好的应用价值。Objective To explore the clinical values of next-generation sequencing(NGS)technique in detecting copy number variation(CNV)of chromosomes in abortuses.Methods Abortuses from 639 patients with spontaneous abortions and fetal death were collected and chromosome CNV analysis was performed using NGS technique.Results The analysis was successfully completed in 630 cases,CNV were detected in 315 cases(50.00%).250 cases were identified as chromosomal aneuploidies,including 64 cases of monosomy,169 cases of trisomy,1 case of triploid,9 cases of other chromosomal abnormalities and 7 cases of sex chromosome mosaic.65 cases were identified as microdeletion or microduplicaiton,including 30 cases as pathogenic,5 cases as likely pathogenic,23 cases of unclear clinical significance,4 cases as likely benign,and 3 cases as benign.The rates of chromosomal aneuploidies in patients older than 35 years and patients younger than 35 years were 44.87%and 38.95%(P>0.05).The rates of pathogenic CNV in patients older than 35 years and patients younger than 35 years were 5.13%and 5.62%(P>0.05).Conclusion NGS technique exhibits highly accuracy in detecting CNV and it may be as a useful method to identify genetic disorders of miscarriage.

关 键 词：二代测序技术 流产物 染色体拷贝数改变 出生缺陷 

分 类 号：R714.21[医药卫生—妇产科学] R440[医药卫生—临床医学]