潍坊市44 578例胎儿无创产前检测结果的回顾性分析

Retrospective analysis of 44578 pregnancies undergoing non-invasive prenatal testing in Weifang

目的回顾通过无创产前检测(non-invasive prenatal testing,NIPT)筛查21三体(trisomy 21,T21)、18三体(trisomy 18,T18)、13三体(trisomy 13,T13)以及性染色体和其他染色体的数目异常和>5 Mb的拷贝数变异的结果。方法对44578例孕妇进行NIPT检测,对提示为高风险者采集羊水或脐血样本,进行G显带染色体核型分析,并随访妊娠的结局。结果在44578例孕妇中,有466例(1.05%)NIPT检测提示为T21(n=1359)、T18(n=178)或T13(n=129)高风险,分别对其中301例、53例和20例进行羊水或脐血染色体检查,共确诊289(96.01%)例T21,40(75.47%)例T18,4(20.00%)例T13。NIPT检测未提示高风险的孕妇中,有2例胎儿出生后被诊断为唐氏综合征,未记录到18三体、13三体综合征。通过统计43552例记录胎儿核型检查结果或妊娠结局的孕妇的检查资料,NIPT检测的灵敏度和特异性分别为T21(99.31%,99.97%)、T18(100%,99.97%)、T13(100%,99.96%)。NIPT检测T21、T18、T13的阳性预测值分别为96.01%、75.47%、20.00%。结论与传统的唐筛和侵入性产前诊断相比,NIPT检测T21、T18和T13具有很高的灵敏度和特异性,是筛查胎儿染色体异常的最佳手段。

Objective To review the results of non-invasive prenatal testing(NIPT)for trisomy 21(T21),trisomy 18(T18),trisomy 13(T13),numerical aberration of sex and other autosomes and copy number variations with a size of>5 Mb.Methods NIPT was carried out for 44578 pregnant women.For those with a high-risk by NIPT,amniotic fluid or cord blood samples were collected for G-banding karyotype analysis,and the pregnancy outcome was followed up.Results Among the 44578 pregnant women,466(1.05%)were diagnosed as high risk of T21(n=1359),T18(n=178)or T13(n=129).Among these,301,53 and 20 were subjected to prenatal diagnosis by amniocyte or umbilical blood karyotyping analysis,among which 289 were diagnosed as T21,40(75.47%)as T18,and 4(20.00%)as T13.Among the high-risk pregnant women,2 cases were diagnosed as Down syndrome after birth,while no trisomy 18 and trisomy 13 were recorded.The sensitivity and specificity of NIPT were T21(99.31%,99.97%),T18(100%,99.97%),T13(100%,99.96%),respectively.The positive predictive values for T21,T18 and T13 by NIPT were 96.01%,75.47%and 20.00%,respectively.Conclusion Compared with conventional serological screening and invasive prenatal diagnosis,NIPT has a high sensitivity and specificity for T21,T18 and T13,and has provided an ideal method to screen fetal chromosomal abnormalities.