孕妇外周血中胎儿核酸研究进展

1997年,Lo等首次报道在母体循环中发现了游离胎儿DNA,为无创产前诊断开辟了新的领域。近年来,从孕妇外周血中直接提取胎儿DNA进行产前诊断日益受到重视。虽然孕妇血中胎儿核酸物质的来源目前仍不清楚,应用相对简单的分子生物学技术已经可以进行胎儿DNA的高灵敏度、高特异性的检测。这些方法已应用到胎儿RhD血型的诊断、胎儿性别鉴定、异常妊娠及染色体综合征的诊断等领域。研究表明胎儿核酸分析前某些因素的变化以及分析方法的不同都会对孕妇外周血中胎儿游离核酸分析产生影响,把握这些因素将使此方法在产前诊断中具有更广阔的应用前景。

Advances in the Research on Fetal Nucleic Acids Analysis from Maternal Plasma

In 1997 , Lo et al. discovered the presence of extracellular fetal nucleic acids in the maternal circulation. This discovery has offered a new avenue for the realization of non-invasive diagnosis. People have pay more and more attention to the prenatal diagnosis through the fetal DNA in maternal circulation in recent years. Although the origin of fetal nucleic in maternal circulation is unknown at present, researchers now can detect fetal nucleic acids sensitively and specifically through simple molecular technology. These methods have been applied to the fetal sex detectian, fetal RhD status determination, the diagnosis of abnormal pregnancy and chromosome syndrome. Researches show that preanalytical factor changes and different analytical methods could effect the analysis of circulating fetal nucleic acids. Understanding these issues will help us to use prenatal diagnosis more freely.