摘要
随着高通量测序技术的发展,无创产前检测(non-invasive prenatal testing,NIPT)在临床上被迅速用于胎儿染色体非整倍体筛查,逐渐成为一线筛查技术。随着测序深度的增加和生物信息分析能力的提升,NIPT技术还可能被用于检测胎儿的染色体拷贝数变异及某些单基因遗传病,辅助临床诊断。但NIPT在临床应用中也遇到了一些问题,如不同群体对NIPT技术的认知差异、检测的假阳性和假阴性结果、如何准确把握适用人群及适宜的检测孕周等,本文对这类问题进行了总结和分析。
With the development of high-throughput sequencing technology,non-invasive prenatal testing(NIPT)has been rapidly used for fetal chromosomal aneuploidy screening and gradually become a first-line test.With the increase of sequencing depth and improvement of bioinformatic analysis ability,NIPT technology may also be used to detect chromosomal copy number variations and certain single gene diseases in fetuses.However,it has also encountered some problems such as insufficient understanding by different groups,false-positive and false-negative results,and selection of appropriate subjects and gestational age.This article has given a summary for such problems.
作者
祝建疆
李伟
黄辉
戚红
Zhu Jianjiang;Li Wei;Huang Hui;Qi Hong(Women and Children’s Health Care Hospital of Haidian District,Beijing 100080,China;BGI-Shenzhen,Guangdong 518083,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第6期599-602,共4页
Chinese Journal of Medical Genetics
关键词
无创产前检测
胎儿占比
孕周
Non-invasive prenatal testing
Fetal fraction
Gestational week
