Development of noninvasive prenatal diagnosis by using maternal blood

母体血浆中的循环胎儿DNA可用于胎儿基因检测和妊娠并发症的评估。作为产前基因检测，这种方法最大的特点就是没有风险。该方法被应用于胎儿性别、胎儿RhD血型和胎儿单基因疾病的诊断。然而，这种血浆DNA方法仅允许检查其中感兴趣的基因存在于胎儿基因组中但不存在于母体DNA中的病症。由于大多数胎儿DNA可能来源于绒毛滋养层细胞，因此浓度可用于评估滋养层细胞的损伤，特别是在妊娠的病理并发症中，如先兆子痫、侵入性胎盘、妊娠剧吐和21三体。因此，孕妇血浆中的胎儿DNA提供了一种新的数据来源，可用于各种临床环境。

Circulating fetal DNA in maternal plasma can be used for both fetal genetic testing and evaluation of complications of pregnancy. As a prenatal genetic test, the greatest feature of this approach is the lack of risk. This approach was applied to the diagnosis of fetal gender, fetal RhD blood type, and fetal single-gene-disorders. However, this plasma DNA approach only allows examination of disorders where the gene of interest is present in the fetal genome but absent from maternal DNA. Since the majority of fetal DNA probably originates from villous trophoblasts, concentrations can be used for the evaluation of damage to trophoblasts, particularly in the pathological complications of pregnancy, such as pre-eclampsia, invasive placenta, hyperemesis gravidarum, and trisomy 21. Fetal DNA in the plasma of pregnant women thus offers a new source of data that can be used in various clinical settings.