无创性产前诊断技术应用于21-三体综合征筛查的进展

摘要

无创性产前诊断技术在近10年取得了较快的进展,通过母体外周血获取胎儿细胞、游离DNA或mRNA,利用表观遗传学手段,对胎源性信息进行产前筛查,获得对21号染色体非整倍体信息的判断。该项技术具有无创、快速、高效的优点,但目前应用仍存在一定的局限性。随着该技术的不断成熟,它的应用前景是非常广阔的。%ABSTRACT A rapid progress has been made in noninvasive prenatal diagnostic technology in last 10 years. People obtain fetal cells, free fetal DNA or mRNA through maternal peripheral blood and take advantage of epigenetic means to do prenatal screening and access the information of chromosome 21 aneuploidy. It is obvious to see that the advantage of NIPD is noninvansive, rapid and efficient. At present its application exists certain limitation. With the technology of the NIPD continuing to be matured, its application is very broad prospects.