天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (12): 1347-1351.doi: 10.11958/20181134

• 综述 • 上一篇    下一篇

无创产前诊断单基因遗传病的研究进展

史云芳，张颖   

  1. 天津医科大学总医院妇产科遗传室（邮编300052）
  • 收稿日期:2018-07-25 修回日期:2018-08-21 出版日期:2018-12-15 发布日期:2019-01-24
  • 通讯作者: 张颖 E-mail:tjzyyzy@aliyun.com

Advances in noninvasive prenatal diagnosis of monogenic disorders

SHI Yun-fang,ZHANG Ying   

  1. Medical Genetic Lab, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, China
  • Received:2018-07-25 Revised:2018-08-21 Published:2018-12-15 Online:2019-01-24

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摘要： 基于母体血浆中胎儿游离DNA（cffDNA）无创产前诊断（NIPD）某些单基因遗传病已用于临床，而且检测病种越来越多。NIPD为高危妊娠夫妇提供了更安全的检测方法，避免了有创产前诊断带来的流产、死胎等风险。在一些国家已经应用NIPD方法诊断一些单基因遗传病，而且不需要通过有创产前诊断进行验证。本文主要对NIPD的研究进展及其面临的挑战做一综述。

关键词: 产前诊断, 遗传性疾病, 先天性, 胎儿游离DNA, 无创产前诊断

Abstract: Non-invasive prenatal diagnosis (NIPD) based on the analysis of cell-free fetal DNA (cffDNA) in maternal plasma has been applied in clinical practice for more and more monogenic conditions. NIPD allows parents with high risk pregnancies the option of safer testing with a maternal blood sample rather than invasive prenatal diagnosis that carries a small miscarriage risk. In some countries the NIPD method has been used to diagnose some single gene disorders, and it does not need to be verified by invasive prenatal diagnosis. This paper mainly reviews the research progress and challenges of NIPD.

Key words: prenatal diagnosis, genetic diseases, inborn, cell-free fetal DNA, non-invasive prenatal diagnosis