无创产前检测筛查胎儿染色体拷贝数变异临床价值

Clinical value of non-invasive prenatal testing for screening of fetal chromosome copy number variation

目的探讨无创产前检测(NIPT)筛查胎儿染色体拷贝数变异(CNV)(主要为染色体微缺失/微重复)的临床价值。方法选择2019年1月至2021年10月,于山西医科大学第一医院接受NIPT,结果提示胎儿染色体缺失或重复,并接受介入性产前诊断的67例孕妇为研究对象。回顾性分析其临床病例资料。对孕妇羊水细胞进行胎儿染色体核型分析及染色体微阵列分析(CMA),并分析NIPT发现的胎儿染色体CNV与上述介入性产前诊断结果的一致性。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。所有孕妇对其上述检测均知情同意,并签署临床研究知情同意书。结果①于上述选择的时间段内,接受NIPT筛查的29479例孕妇中,胎儿染色体缺失或重复为87例,筛查结果胎儿染色体CNV发生率为0.30%(87/29479)。②介入性产前诊断的67例孕妇中,确诊胎儿染色体CNV为35例,NIPT筛查胎儿染色体CNV的阳性预测值为52.2%(35/67);29例胎儿的CMA与NIPT筛查结果显示的胎儿染色体CNV基本一致,二者检测胎儿染色体CNV符合率为43.2%(29/67)。结论NIPT筛查胎儿染色体CNV具有可行性。对于NIPT筛查结果为胎儿染色体CNV者,应采取产前诊断方法进一步确诊。

Objective To explore clinical value of non-invasive prenatal testing(NIPT)for screening of fetal chromosome copy number variation(CNV),mainly microdeletion/microduplication.Methods From January 2019 to October 2021,a total of 67 pregnant women whose results of NIPT showed fetal chromosomes deletions or repetitive abnormal in First Hospital of Shanxi Medical University,and then received interventional prenatal diagnosis,were selected as research subjects.Their clinical data were retrospectively analyzed.Fetal chromosome karyotype analysis and chromosome microarray analysis(CMA)were performed on amniotic fluid cells of pregnant women to analyze the consistency of fetal chromosome CNV between NIPT and interventional prenatal diagnosis.The procedure of this study was consistent with the Helsinki Declaration of World Medical Association revised in 2013.All pregnant women gave their informed consent to the above mentioned tests and sign the informed consent forms.Results①During above time period,there were 29479 pregnant women who received NIPT and 87 cases showed abnormal of deletion or duplication of fetal chromosomes,and rate of fetal chromosome CNV was 0.30%(87/29479).②There were 35 cases diagnosed as fetal chromosomal CNV among 67 pregnant women who received interventional prenatal diagnosis,and the positive predictive value of NIPT screening for fetal chromosomal CNV was 52.2%(35/67).Among 67 pregnant women,29 cases of CMA results of fetal chromosomal CNV were coincident with NIPT,and coincident rate of fetal chromosomal CNV detected by NIPT and CMA was 43.2%(29/67).Conclusions It is feasible of NIPT screening for fetal chromosome CNV.For those who have fetal chromosome CNV results of NIPT,prenatal diagnosis should be further taken to confirm the diagnosis.