胎儿游离RNA在产前诊断中的研究进展

传统产前诊断依靠有创性操作，具有潜在风险。目前无创性产前诊断方法集中于从母体血液中分离胎儿细胞或从血清或血浆中提取胎儿游离DNA，二者在临床的应用尚存不足。近年，妊娠妇女血循环中游离胎儿RNA的发现和应用，是无创性产前诊断领域的突破。已经证实，游离胎儿RNA分子主要来源于胎盘，在母体血循环中比较稳定，易于检测。同时，由于其无需依赖于胎儿性别或是父源性多态性位点，临床应用领域优于胎儿游离DNA；结合对分子标记物的定量检测方法更适用于产前诊断领域，并已取得初步成果。预测其具有很好的应用前景。

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

Traditional prenatal diagnosis depends on invasive manipulations, which have potential risks for fetus. Nowadays the technologies of non-invasive prenatal diagnosis （NIPD） focus on isolation of fetal intact cells from maternal circulation and extraction of cell-free fetal DNA, but these two methods have limitations in clinical applications. Recently the foundation of cell-free RNA in maternal blood has become a great breakthrough in NIPD. The cffRNA has been proved to origin from placenta, and easy to detect due to stable characteristics. The cffRNA has more advantages in clinical applications than cffDNA because the former does not need to depend on fetal gender or paternal polymorphic markers. The preliminary accomplishment has been made in prenatal diagnosis of Down syndrome through the combination with quantitative methods for molecular markers. The development of cffRNA will offer a good application prospect for NIPD of aneuploidy.