摘要
目的通过利用基因组拷贝数变异测序技术(CNV-Seq)在全基因组的水平上检测100kb以上的染色体微缺失/微重复,研究胎儿NT增厚与胎儿染色体CNVs相关性。方法选取2017年1月1日至2019年7月30日来我院围产保健科就诊孕11~13+6w彩超诊断NT≥3.0mm的孕妇298例。总共获得胎儿样本305例,包括绒毛155例、羊水149例(双绒双羊双胎样本10例,双绒双胎一胎停育样本1例,双绒三羊三胎样本3例)、脐血1例。样本均进行胎儿染色体G显带核型分析和CNV-Seq检测。结果本研中305例胎儿样本均行CNV-Seq技术检测,3例CNV检测失败。共检测出CNV异常是106例(34.75%,106/305),其中74例为致病性的胎儿染色体核型异常同时CNV异常(69.81%,74/106),31例为胎儿染色体核型正常的NT增厚胎儿CNV异常(41.33%,31/75)。包括致5例致病性CNV(16.13%,5/31)、6例可能致病性CNV(19.35%,6/31)、10例良性CNV(32.26%,10/31)、10例临床意义不明(32.26%,10/31)。结论CNV-Seq技术检出了所有的致病性的染色体核型异常胎儿,并且在胎儿染色体核型正常的NT增厚胎儿(218例)中检出了5例致病性CNV和6例可能致病性CNV异常,也就是说通过CNV-Seq额外提高了胎儿异常的检出率是5.05%(11/218)。
Objective:To assess the risk of chromosome abnormality in fetuses with increased nuchal translucency by detecting micro-deletions/micro-duplications of more than 100kb with using genomic copy number variation sequencing(CNV-seq).Methods:A cohort of 106 fetuses with an increased NT thickness at or above 3mm were analysed by karyotyping and CNV-seq From January 1,2017 to July 30,2019.Results:A total of 298 pregnant women who were diagnosed with NT≥3.0mm by color doppler ultrasound in the first trimester(11-13+6 weeks)were collected.A total of 305 fetal samples were obtained,including 155 cases of villi,149 cases of amniotic fluid and 1 case of umbilical cord blood,all samples were analysed by karyotyping and CNV-seq,3 of them failed to detected CNV.A total of 106 cases(34.75%,106/305)of CNV abnormalities were detected,among which 74 cases were pathogenic fetal chromosomal karyotype abnormalities and CNV abnormalities(69.81%,74/106),and 31 cases were normal chromosomal karyotype with increased nuchal translucency but CNV was abnormal(41.33%,31/75),including 5 cases of pathogenic CNV(16.13%,5/31),6 cases of potentially pathogenic CNV(19.35%,6/31),10 cases of benign CNV(32.26%,10/31),and 10 cases of unknown clinical significance(32.26%,10/31).Conclusion:The CNV-seq technique detected all pathogenic abnormal karyotype fetuses,and 5 pathogenic CNV and 6 possibly pathogenic CNV abnormalities were detected in NT thickened fetuses with normal chromosomal karyotype.In other words,in NT thickened fetuses by the CNV-seq technology,which increased the detection rate of fetal abnormality by 5.05%(11/218).
作者
刘百灵
王远流
邓新娥
徐燕
赖秋荣
李哲涛
罗世强
岑白梅
莫媚媚
LIU Bai-ling;WANG Yuan-liu;DENG Xin′e;XU Yan;LAI Qiu-rong;LI Zhe-tao;LUO Shi-qiang;CEN Baimei;MO Mei-mei(Prenatal diagnosis center of perinatal health care department,Guangxi,545001;Ultrasound department,Guangxi,545001;Key Laboratory for prevention and control of birth defects in Liuzhou City,Guangxi,545001)
出处
《中国优生与遗传杂志》
2020年第6期698-701,733,共5页
Chinese Journal of Birth Health & Heredity
基金
广西壮族自治区卫生厅项目(Z20170519)
关键词
胎儿颈项透明层增厚
CNV-Seq技术
染色体拷贝数变异
染色体微缺失、微重复
Increased nuchal translucency
Copy number variation sequencing
Chromosome copy number variation
Chromosomal microdeletion and microduplication
