5696例孕妇拓展性无创产前基因检测结果

Results of non-invasive prenatal testing-plus in 5696 pregnant women

目的探讨拓展性无创产前基因检测(NIPT-plus)在产前筛查中的应用价值。方法选取2019年12月—2021年6月在焦作市妇幼保健院进行NIPT-plus检测的孕妇5696名,对其NIPT-plus结果、介入性产前诊断结果和随访结果进行回顾性分析,了解NIPT-plus染色体非整倍体和拷贝数变异(CNV)等胎儿染色体异常检出情况。结果5696名孕妇中,检测成功5685名,NIPT-plus高风险总检出率为2.60%(148/5685)。以介入性产前诊断结果为标准,NIPT-plus对21-三体综合征和18-三体综合征的阳性预测值(65.22%、66.67%)高于性染色体异常高风险(25.00%)和染色体微缺失/微重复(26.83%)。NIPT-plus提示染色体微缺失、微重复与介入性产前诊断结果的符合率分别为43.75%(7/16)、40.00%(10/25);染色体微缺失孕妇的妊娠终止率高于染色体微重复孕妇。结论NIPT-plus筛查21-三体综合征、18-三体综合征的阳性预测值较高,对性染色体异常和CNV的阳性预测值相对较低,其结果需结合介入性产前诊断进行分析。对产前诊断确定的CNV必要时应追溯其亲代起源,为孕妇提供正确的遗传咨询。

Objective To investigate the value of non-invasive prenatal testing-plus(NIPT-plus)in prenatal screening.Methods The results of NIPT-plus,interventional prenatal diagnosis and follow-up outcome in 5696 pregnant women in Maternal and Child Health Hospital of Jiaozuo from December 2019 to June 2021 were analyzed to study the status of NIPT-plus on detecting chromosome aneuploidy and copy number variation(CNV).Results Totally,5685 cases were determined among the 5696 pregnant women,and the determination rate of high-risk in chromosomal abnormality was 2.60%(148/5685)by NIPT-plus.NIPT-plus had higher positive predictive values on 21-trisomy and 18-trisomy(65.22%and 66.67%)than sex chromosome abnormality highrisk(25.00%)and chromosome microdeletions/microduplications(26.83%).The consistency rates of the results of microdeletions and microduplications in NIPT-plus and prenatal diagnosis were 43.75%(7/16)and 40.00%(10/25),respectively.The rate of pregnancy termination in microdeletion pregnant women was higher than that in microduplication pregnant women.Conclusions NIPT-plus has high positive predictive value in screening 21-trisomy and 18-trisomy.There is a low positive predictive value for sex chromosome abnormality and CNV by NIPT-plus.It is necessary to combine the results of interventional prenatal diagnosis.When necessary,CNV diagnosed by prenatal diagnosis should verify the source in order to provide correct genetic counseling for pregnant women.