扩展性无创产前检测在胎儿染色体拷贝数变异筛查中的应用

Application of expanded noninvasive prenatal testing in the screening of fetal copy number variations

目的探讨扩展性无创产前检测(NIPT-Plus)在胎儿染色体拷贝数变异(CNVs)筛查中的临床应用价值。方法选取2021年6月至2022年12月在西安新长安妇产医院行NIPT-Plus检测的2604例孕妇作为研究对象,NIPT-Plus检测结果为高风险的孕妇建议进行羊水穿刺,行染色体核型分析和染色体微阵列分析(CMA)进行结果验证,电话随访妊娠结局。结果2604例孕妇中NIPT-Plus检测提示25例CNVs高风险,阳性率为0.96%,18例孕妇选择侵入性产前诊断,其中12例CMA结果与NIPT-Plus结果相吻合,阳性预测值为66.67%(12/18),随访发现9例孕妇在遗传咨询后选择终止妊娠,1例孕妇早产后孩子夭折,2例孕妇选择继续妊娠。结论NIPT-Plus是一种高效的筛查技术,对胎儿染色体CNVs的检出具有一定的临床应用价值,但存在假阳性,仍需进一步产前诊断。

Objective To explore the clinical application value of expanded noninvasive prenatal testing(NIPT-Plus)in the screening of fetal chromosome copy number variations(CNVs).Methods A total of 2604 pregnant women who accepted NIPT-Plus in New Changan International Maternity Hospital were enrolled in the study from June 2021 to December 2022.Pregnant women with positive results of NIPT-Plus were suggested to undergo invasive prenatal diagnosis.Chromosome karyotyping and chromosome microarray analysis(CMA)were performed for further confirmation and the pregnancy outcome was followed up by telephone.Results Of the 2604 participants,25 cases were positive for CNVs with a positive rate of 0.96%(25/2604).Eighteen pregnant women underwent invasive prenatal diagnosis,of which 12 were confirmed as true positives(with the CMA results consistent with the NIPT-Plus results),with a positive predictive value of 66.67%(12/18).Finally,9 pregnant women chose to terminate the pregnancy after genetic counseling,1 child died after premature delivery,and 2 pregnant women chose to continue the pregnancy.Conclusion NIPT-Plus is an efficient screening method,which has certain clinical application value in detection of fetal chromosome CNVs.However,there are false positives.Further prenatal diagnosis is still needed.