母体血液循环中胎儿的游离DNA在产前检查中的应用

The significance of circulating cell-free fetal DNA in maternal blood in prenatal testing

为妊娠期妇女提供一系列产前检查是优生优育的关键。而DNA测序技术的不断革新和转化,使得产前保健跨入分子检测时代。母体血液循环中存在胎儿的游离DNA,这一发现对于产前检查技术手段的变革具有跨时代的影响意义。本文讨论并比较了传统非侵入产前检查和现有最新的DNA检测技术,即通过母体血浆中检测胎儿细胞游离DNA,以实现产前诊断,尤其是唐氏综合征的检查。并对这一新技术革新在国内外的临床应用,所面临的伦理学问题,各种机遇和挑战进行了综述。

Providing a range of prenatal care for pregnant women is the key to reducing maternal mortality and perinatal mortality. With the development of DNA sequencing,the clinical antenatal care now is at the molecular level. The discovery of circulating cell-free fetal DNA in maternal blood creates a new era of novel technology for prenatal testing. In this review,we discussed and summarized the technical approaches and current clinical applications of prenatal testing using cell-free DNA in maternal plasma,including detection of fetal rhesus D antigen status,fetal sex,and common whole chromosomal aneuploidies,especially Down syndrome,is now well established,although testing for aneuploidy is still considered to be challenging,and with the ethnic concerning.