拓展性无创产前检测对唐氏综合征高风险孕妇的筛选价值  

The value of expanded non-invasive prenatal testing in screening for pregnant women with high risk of Down's syndrome

作　　者：钱悦 金克勤 胡旻 李娜 骆健峰 Qian Yue

机构地区：[1]浙江中医药大学医学技术与信息工程学院,310053 [2]金华市妇幼保健院,321000

出　　处：《浙江临床医学》2025年第2期180-183,共4页Zhejiang Clinical Medical Journal

基　　金：金华市科学技术项目(2019-3-002a,2021-3-123,2021-4-230)。

摘　　要：目的探讨拓展性无创产前检测(NIPT Plus)在唐氏综合征高风险孕妇的筛选价值。方法回顾性分析2018年1月至2023年7月在本院及下辖县级医院自愿接受NIPT Plus的唐氏综合征高风险孕妇1670例。对NIPT Plus高风险孕妇进行核型和染色体微阵列分析,并对比NIPT Plus结果、产前诊断结果以及妊娠结局。结果在1670例样本中,NIPT Plus检测出CNVs(>4 Mb或≤4 Mb)或非整倍体52例,检出率为3.1%(52/1670)。其中46例进行了核型及CMA诊断,与NIPT Plus结果相符的有33例,阳性预测值为71.7%(33/46)。其中非整倍体阳性预测值为77.3%(17/22)、CNVs阳性预测值为66.7%(16/24)。以染色体分子核型金标准CMA为诊断依据,NIPT Plus敏感度为76.7%(33/43),准确度为85.7%(174/203),特异度为88.1%(141/160)。基于随访结果,NIPT Plus筛查低风险的符合率为99.8%(1615/1618),复合符合率为97.9%(1635/1670)。结论NIPT Plus在胎儿非整倍体筛查中显示出较高的准确率,对CNVs的筛查也具有一定的准确率。对于不愿意进行产前诊断的唐氏综合征高风险孕妇,NIPT Plus可以作为一种有效补充手段。对于NIPT Plus高风险结果,尤其是CNVs,应进一步进行产前诊断,并提供遗传咨询。Objective To explore the value of expanded non-invasive prenatal testing(NIPT Plus)in screening for pregnant women with high risk of Down's syndrome.Methods A retrospective analysis was conducted on 1,670 cases of high-risk Down syndrome pregnant women who voluntarily accepted NIPT Plus from January 2018 to July 2023 at our hospital and its affiliated county-level hospitals.High-risk pregnancies identified by NIPT Plus were undergone karyotyping and chromosomal microarray analysis(CMA),and the results were compared with NIPT Plus results,prenatal diagnostic outcomes,and pregnancy outcomes.Results Among the 1,670 samples,NIPT Plus detected 52 cases of copy number variations(CNVs)(>4 Mb or≤4 Mb)or aneuploidies,with a detection rate of 3.1%(52/1,670).Among these,46 cases were undergone karyotyping and CMA,with 33 cases matching the NIPT Plus results,yielding a positive predictive value of 71.7%(33/46).The positive predictive value for aneuploidies was 77.3%(17/22),and for CNVs it was 66.7%(16/24).Using chromosomal molecular karyotyping as the gold standard for diagnosis,the sensitivity of NIPT Plus was 76.7%(33/43),the accuracy was 85.7%(174/203),and the specificity was 88.1%(141/160).Based on follow-up results,the concordance rate for low-risk screening by NIPT Plus was 99.8%(1615/1618),and the composite concordance rate was 97.9%(1635/1670).Conclusion NIPT Plus demonstrates a high accuracy rate in screening for fetal aneuploidies and a certain accuracy rate in screening for CNVs.For pregnant women at high risk of Down syndrome who are unwilling to undergo prenatal diagnosis,NIPT Plus can serve as an effective supplementary method.For high-risk results from NIPT Plus,especially CNVs,further prenatal diagnosis and genetic counseling should be provided.

关 键 词：拓展性无创产前检测 唐氏综合征筛查 染色体拷贝数变异 染色体核型 染色体微阵列分析 

分 类 号：R71[医药卫生—妇产科学]