摘要
目的:分析不同无创产前筛查(NIPT)平台检测胎儿染色体微缺失微重复(CNV)效果,探讨检测性能差异原因。方法:对2018年1月1日-10月31日在本中心3类测序平台完成普通NIPT筛查的23170例样本进行CNV筛查,对筛查阳性样本行羊水细胞遗传学检查。结果:胎儿CNV筛查阳性率DA8600平台为0.38%,CN500平台为0.26%,BGI500平台为0.58%,3类平台筛查阳性率有差异(P<0.05);CNV检测的阳性预测值DA8600平台为26.67%,CN500平台为16.67%,BGI500平台为42.86%,3类平台间无差异(P>0.05)。测序平台间质控参数,BGI500平台的unique read number(6.61±1.19M)高于DA8600和CN500平台。结论:普通NIPT筛查用于胎儿CNV产前筛查具有一定临床预测价值,增加unique read number是提高测序平台CNV检测效能的一个方向。对CNV筛查阳性特别是致病性CNV阳性者应建议产前诊断胎儿是否携带该染色体微缺失微重复。
Objective:To analyze the effect of diffrent type of NIPT platforms for detection of fetal microdeletion and microduplication,and to explore the causes of difference of these NIPT screening platforms.Methods:A retrospective analysis was performed,in which,23,170 peripheral blood samples of pregnant women were used to screen fetal chromosome microdeletion and microduplication based on three types of NIPT screening platforms from January to October 2018.Results:The screening positive rate of fetal chromosome microdeletion and microduplication based on the DA8600 platform,the CN500 platform,and the BGI500 platform were 0.38%,0.26%,and 0.58%,respectively,which had significant different(P<0.05).The positive predictive value of screen fetal chromosome microdeletion and microduplication based on the DA8600 platform,the CN500 platform,and the BGI500 platform were 26.67%,16.67%,and 42.86%,which had no significant different(P>0.05).The process parameters of the BGI500 platform was 6.61±1.19M,which was significant higher than that of the DA8600 or CN500 platforms.Conclusion:The NIPT for screening fetal CNV has certain clinical predictive value,which combined with unique read number can improve the efficiency of fetal chromosome microdeletion and microduplication detection.It is suggested that screening positive samples with fetal chromosome microdeletion or microduplication,especially for samples with pathogenicital chromosome microdeletion or microduplication,prenatal diagnosis by amniocentesis for identify is necessary.
作者
张春花
贺权泽
乔龙威
吴小娟
陆嘉逢
薛莹
沈聪
王挺
ZHANG Chunhua;HE Quanze;QIAO Longwei;WU Xiaojuan;LU Jiafeng;SHEN Cong;XUE Ying;WANG Ting(Suzhou Municipal Hospital,Jiangsu Province,215000)
出处
《中国计划生育学杂志》
2020年第2期203-207,共5页
Chinese Journal of Family Planning
基金
苏州市科技局应用基础研究(SYS201649)
关键词
染色体微缺失微重复
无创产前筛查
高通量测序
Chromosome microdeletion and microduplication
Non-invasive prenatal testing
High-throughput sequencing
作者简介
通信作者:王挺,biowt@163.com。
