摘要
目的探讨无创产前检测(non-invasive prenatal testing,NIPT)在胎儿染色体非整倍体筛查中的应用价值.方法采集9470例传统产前筛查提示中高风险或高龄孕妇的外周血样,抽提胎儿游离DNA,在Hiseq2000上进行大规模平行测序.对结果提示为阳性的孕妇进行侵入性产前诊断.结果在9470份样本中,筛查提示阳性者194例(2.0%),包括21-三体50例,18-三体11例,13-三体17例,其他常染色体非整倍体44例,性染色体非整倍体55例,染色体拷贝数变异17例.羊水或脐血染色体核型分析证实,上述异常的假阳性率分别为2.0%、18.2%、41.2%、97.7%、81.8%、94.1%.NIPT的敏感性为100%,特异性为98.79%.结论NIPT对常见的非整倍体(21-三体、18-三体)的敏感性、特异性与核型分析有较好的一致性,具有较高的临床应用价值.
Objective To assess the value of non-invasive prenatal testing(NIPT)for the identification of fetal chromosomal aneuploidies.Methods For 9470 pregnant women with a moderate-tohigh risk by conventional serological screening or advanced maternal age,peripheral venous blood samples were collected and,following extraction of free fetal DNA,subjected to large-scale parallel sequencing on a Illumina Hiseq2000 platform.Those with a high risk by NIPT were validated by invasive prenatal diagnosis.Results Out of the 9470 samples,194 cases(2.0%)were positive by NIPT testing.These included 50 trisomy 21,11 trisomy 18,17 trisomy 13,44 other autosomal aneuploidies,55 sex chromosomal aneuploidies,and 17 chromosomal copy number variations.As validated by amniotic fluid or umbilical blood chromosomal karyotyping analysis,NIPT has a false positive rate of 2.0%,18.2%,41.2%,97.7%,81.8%,94.1%,respectively.The test has a sensitivity of 100%and a specificity of 98.79%.Conclusion For common chromosomal aneuploidies such as trisomy 21 and trisomy 18,NIPT has a good sensitivity and specificity,therefore has good value for clinical application.
作者
周颖
王振宇
毛倩倩
施丹华
张莉超
徐玲玲
李海波
Zhou Ying;Wang Zhenyu;Mao Qianqian;Shi Danhua;Zhang Lichao;Xu Lingling;Li Haibo(Key Laboratory of Comprehensive Prevention and Control,Ningbo Women and Children’s Hospital,Ningbo,Zhejiang 315012,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第11期1094-1096,共3页
Chinese Journal of Medical Genetics
基金
宁波市科技项目(2014B82003).
关键词
无创产前检测
染色体核型
非整倍体
Non-invasive prenatal testing
Chromosomal karyotyping
Aneuploidy
作者简介
通信作者:李海波,Email:546701876@qq.com
