270例母血清学筛查高风险孕妇胎儿染色体拷贝数变异测序结果分析  

Analysis of Chromosomal Copy Number Variation Sequencing Results in 270 High-risk Pregnant Women Undergoing Maternal Serological screening

作　　者：宋胜楠 卢守莲[1] 唐艳 王珏[1] SONG Shengnan;LU Shoulian;TANG Yan(Obstetrical Department,The First Affiliated Hospital of Nanjing Medical University,Nanjing Jiangsu 210029,China)

机构地区：[1]南京医科大学第一附属医院产科,江苏南京210029

出　　处：《实用妇产科杂志》2023年第5期381-385,共5页Journal of Practical Obstetrics and Gynecology

摘　　要：目的:探讨基于高通量测序的基因组拷贝数变异测序(CNV-seq)技术在血清学筛查高风险人群产前诊断中的应用价值。方法:选取2018年1月至2021年10月介入性产前诊断病例中血清学筛查高风险孕妇共270例,分为单纯血清学筛查高风险组(A组186例)和血清学筛查高风险合并其他产前诊断指征组(B组84例),分析胎儿染色体拷贝数变异(CNVs)在血清学筛查高风险人群中的检出情况。结果:270例CNV-seq检测均成功,257例同时进行了染色体核型分析,255例培养成功。CNV-seq共检出胎儿CNVs 47例(17.4%),其中致病性基因组拷贝数变异(pCNVs)19例(7.0%)、临床意义不明的CNV(VUS)13例(4.8%)、可能良性及良性15例(5.6%)。结合染色体核型分析结果,均提示致病性异常的有11例;CNV-seq额外检出32例CNV,其中pCNVs7例、VUS 11例,良性和可能良性14例。CNV-seq漏检2例染色体平衡易位、3例染色体多态性。A组与B组相比,pCNVs检出率分别为1.6%(3/186)、19.0%(16/84),差异有统计学意义;VUS检出率分别为4.3%、6.0%,差异无统计学意义。结论:对于血清学筛查高风险人群,通过介入性产前诊断,同时进行胎儿染色体核型分析与CNV-seq检测,可以提高染色体异常的检出率。Objective:To explore the application value of CNV-seq(Copy number variation sequencing)based on high-throughput sequencing in prenatal diagnosis of high-risk population in serological screening.Methods:A total of 270 high-risk pregnant women who underwent serological screening from January 2018 to October 2021were selected and divided into a simple high-risk group(186 cases in Group A)and a high-risk group with other indications(84 cases in Group B),The detection of fetal copy number variations(CNVs)in the high-risk population undergoing serological screening was analyzed.Results:All 270 cases of CNV-seqg were detected suc-cessfully,257 cases were analyzed with chromosome karyotype,and 255 cases were cultured successfully.47 ca-ses(17.4%)of fetal CNVs were detected by CNV-seq,among which 19 cases(7.0%)were pathogenic genomic copy number variations(pCNVs),and 13 cases(4.8%)were clinically unknown CNVs(VUS).15 cases(4.8%)were potentially benign and benign CNVs.Combined with chromosome karyotype analysis,11 cases showed pathological abnormalities.CNV-seg detected an additional 32 cases of CNVsincluding 7 cases of pCNVs and 11 cases of vUS,and 14 cases of benign and potentially benign CNV-seq missed 2 cases of chromosomal balanced translocation and 3 cases of chromosome polymorphism.Compared with Group B,the detection rates of pCNVs in Group A were 1.6%(3/186)and 19.0%(16/84)respectively,indicating a significant difference The detection rates of VUS were 4.3%(8/186)and 6.0%(5/84),respectively,with no significant difference.Conclusion:For high-risk populations undergoing serological screening interventional genetic prenatal diagnosis combined chromosome kary-otype analysis with CNV-seq detection can improve the detection rate of fetal chromosomal abnormalities.

关 键 词：母血清学产前筛查 基因组拷贝数变异测序 染色体核型分析 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]