无创产前检测对于胎儿染色体拷贝数变异的检测价值

目的:探讨无创产前检测(non-invasive prenatal testing，NIPT)对于胎儿染色体拷贝数变异(copy number variations, CNVs)的检测价值。方法:收集18 661例接受NIPT检测的孕妇的临床资料，为提示胎儿携带CNVs的孕妇提供羊水染色体核型或/及染色体微阵列分析，并...

Value of non-invasive prenatal testing for the detection of fetal chromosomal copy number variations

Objective To explore the value of non-invasive prenatal testing(NIPT)for the detection of fetal chromosome copy number variations(CNVs).Methods Clinical data of 18661 pregnant women who underwent NIPT were collected.For fetuses suspected for carrying CNVs,amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis(CMA).Results Among all samples,NIPT suggested that 58 fetuses carried trisomy 21,18 carried trisomy 18,19 carried trisomy 13,1 carried trisomies 18 and 21.Eighty eight women accepted invasive prenatal diagnosis.The results of CMA in 59 cases were consistent with those of NIPT,which yielded a consistency rate of 67.05%.In addition,37 cases of fetal CNVs were detected by NIPT,of which 19(15 microdeletions and 4 microduplications)have accepted invasive prenatal diagnosis.In 14 cases,the results were consistency with those of NIPT,with a consistenly rate of 73.68%.Conclusion NIPT features high sensitivity and accuracy.Invasive prenatal diagnosis should be considered for CNVs detected by NIPT,and by tracing its parental origin,it can provide guidance for clinical practice.