利用孕妇血浆中胎儿DNA进行无创性产前诊断的研究进展

产前诊断对于预防及控制新生儿发病率具有十分重要的意义.目前,大多数的产前诊断方法对孕妇和胎儿具有潜在的损伤,所以临床医生一直在寻找新的无创性产前诊断技术.研究表明胎儿细胞存在于孕妇外周血中,但由于其数量较少,而且存在个体差异,因此很难应用于临床.最近的研究发现母体血浆或血清中存在高浓度的游离胎儿DNA.近年来,随着分子生物学技术的发展,从孕妇血浆或血清中检测胎儿DNA并应用于临床成为可能,为无创性产前诊断开辟了一种新途径.本文着重介绍游离胎儿DNA的来源、特点及在无创性产前诊断中的应用.

Advances of noninvasive prenatal diagnosis using fetal DNA in maternal plasma

Prenatal diagnosis exhibits very important clinical significances in preventing and controlling the incidence of diseases. Currently, most of prenatal diagnosis technologies are invasive, and are harmful to both mother and fetus, so alternative noninvasive methods are necessary. It is confirmed that fetal cells exist in maternal peripheral blood, but the number is rare and is different between individuals; therefore it is difficult to apply this technique for clinical purpose. Recently it has been clarified that the concentration of free fetal DNA in maternal plasma or serum is high. As the development of molecular technologies provides a possibility to detect fetal DNA in maternal plasma or serum, noninvasive prenatal diagnosis become practical in clinical application. This paper mainly introduced the origin, characteristics and clinical application of cell-free fetal DNA in noninvasive prenatal diagnosis.