NIPT-plus在无创产前检测CNV中的临床价值分析

Study on the clinical value of NIPT-plus in non-invasive prenatal detection of CNV

目的探讨无创产前基因检测技术(NIPT-plus)在胎儿染色体拷贝数变异(CNV)筛查中的临床价值。方法选取2019年3月-2020年3月在江津区妇幼保健院产检中因B超软指标异常、高龄、血清学产前筛查高风险或临界风险的孕妇1014例,征得孕妇同意后接受NIPT-plus检测,对检测阳性孕妇均进行羊水细胞染色体核型分析,对比分析NIPT-plus与羊水细胞染色体核型分析结果的一致性。结果本组1014例孕妇经NIPT-plus检测共检出18-三体高风险3例,21-三体高风险4例,13-三体高风险1例,微缺失/微重复5例,性染色体非整倍体3例,以核型分析结果为金标准,NIPT-plus检测18-三体高风险、21-三体高风险及13-三体高风险的阳性预测值均为100.0%,微缺失/微重复的阳性预测值为60.0%,性染色体异常的阳性预测值为66.7%。结论NIPT-plus在CNV的检测中对常见疾病的阳性预测值较高,而在微缺失/微重复、性染色体异常等的检测中阳性预测值尚有待提高,临床中应根据孕妇风险情况合理选择。

Objective To explore the clinical value of non-invasive prenatal genetic testing(NIPT-plus)in the screening of fetal chromosome copy number variation(CNV).Methods Selected 1014 pregnant women with high or borderline risk due to abnormal B-ultrasound soft index,advanced age,serological prenatal screening during maternity examination in Jiangjin District Maternity and Child Health Hospital from March 2019 to March 2020.After obtaining the consent of the pregnant women Under the NIPT-plus test,the amniotic fluid cell karyotype analysis was performed on all pregnant women with positive tests,and the consistency of the NIPT-plus and amniotic fluid cell karyotype analysis results were compared.Results In this group of 1014 pregnant women,3 cases of high risk of trisomy 18,4 cases of high risk of trisomy 21,1 case of high risk of trisomy 13,5 cases of microdeletion/microduplication,3 cases of sex chromosome aneuploidy were detected by NIPT-plus.Type analysis results are the gold standard.NIPT-plus has a positive predictive value of 100.0%for high-risk trisomy 18 and high-risk trisomy 21 and high risk of trisomy 13,a positive predictive value of 60.0%for microdeletion/microduplication,and a positive predictive value of sex chromosome abnormalities.It is 66.7%.Conclusion NIPT-plus has a high positive predictive value for common diseases in the detection of CNV,while the positive predictive value of the detection of microdeletion/microduplication,sex chromosome abnormality,etc.needs to be improved,and clinically should be reasonable based on the risk of pregnant women select.