国际妇产科学杂志

国际妇产科学杂志 ›› 2010, Vol. 37 ›› Issue (3): 151-156.

• 综述 • 上一篇    下一篇

细胞游离胎儿DNA产前诊断胎儿非整倍体异常

徐爱群,边旭明   

  1. 100730 北京，中国医学科学院 中国协和医科大学北京协和医院妇产科（徐爱群，现工作于青岛大学附属烟台毓璜顶医院妇产科）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2010-06-15 发布日期:2010-06-15

Research Progress of Cell-free Fetal DNA in Prenatal Diagnosis of Aneuploidy

XU Ai-qun, BIAN Xu-ming   

  1. Chinese Academy of Medical Sciences, Peking Union Medical College，Department of Obstetrics & Gynecology，Peking Union Medical College Hospital， Beijing 100730，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2010-06-15 Online:2010-06-15

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摘要： 细胞游离胎儿DNA（cffDNA）已被成功在妊娠妇女血循环中检测到。与母体血循环中胎儿细胞不同，cffDNA最早可在妊娠4周检测出，并能在产后迅速消失。cffDNA可能源于胎盘部位的滋养细胞等并通过凋亡机制释放进入母体血循环中。通过检测cffDNA可产前诊断胎儿非整倍体异常，但因其在妊娠妇女血中含量较少，检测具有挑战性。目前已有多种新检测方法用于非整倍体异常的产前诊断，尚需不断完善。

关键词: 细胞游离DNA, 胎儿, 无创性产前诊断, 非整倍体异常

Abstract: Cell-free fetal DNA (cffDNA) has been successfully detected in maternal circulation during pregnancy. Unlike intact fetal cell in maternal circulation, cffDNA can be detected from 4 weeks gestations and cleared from the circulation following birth. The source of cffDNA has not been clearly elucidated and speculated from placenta with the mechanism of apoptosis. The usage of cffDNA can be applied to diagnose fetal aneuploidy during first and second trimester pregnancy. The limitation of cffDNA is the scarcity in maternal circulation to challenge the measurements. Nowadays some new detecting methods have been developed and applied to the prenatal diagnosis, but still need to be improved. The development of cffDNA will offer a good application prospect for non-invasive prenatal diagnosis of aneuploidy.

Key words: Cell-free DNA, Fetal, Non-invasive prenatal diagnosis, Aneuploidy