基于游离RNA无创性产前诊断研究进展.pdfVIP

356 分子诊断与治疗杂志　2011 年 9 月 第 3 卷 第 5 期　J Mol Diagn Ther, September 2011, Vol. 3 No. 5 · · •综 述• 基于游离 RNA 的无创性产前诊断研究进展 1 2 2 1 王侦 陈嘉昌 陈华云 朱振宇 [ 摘 要 ] 孕妇血浆血清中游离 RNA 作为一种新的胎儿遗传信息材料给无创性产前诊断带来了新的契机 。 已经证实 ，游离胎儿 RNA 分子主要来源于胎盘 ，且稳定存在于母体血循环 中，易于检测 。 同时 ，其 由于无 需依赖胎儿性别或父源性多态性位点而具有十分 明显 的应用优势 。 目前 ，已经有研究将血浆血清 中游离 RNA 与胎儿非整倍体 、宫 内发育迟缓 以及子痫前期等妊娠相关疾病联系起来 ，并且取得 了十分可喜的研究 成果 。 [ 关键词 ] 游离 RNA ；胎儿非整倍体 ；宫 内发育迟缓 ；子痫前期 ；无创性产前诊断 Recent progress in non-invasive prenatal diagnosis based on the cell-free RNA in maternal plasma or serum 1 2 2 1 WANG Zhen , CHEN Jiachang , CHEN Huayun , ZHU Zhenyu （1.Zhongshan School of Medcine, Sun Yat-sen University, Guangdong, Guangzhou 510080, China ；2.Daan Gene Diagnostic Center of Sun Yat-Sen University, Guangdong, Guangzhou 510665, China ） [ABSTRACT] Cell-free RNA in maternal plasma or serum has already been demonstrated to be one of the information resources of fetus ，which potentially offers an excellent method for early non-invasive prenatal diagnosis (NIPD). Such cell-free RNA coming from placenta can stably circulate in maternal blood and can been detected easily. Meanwhile, the cell-free RNA without dependece on fetal gender or polymorphisms between the mother and fetus shows great advantages in routine diagnosis. Recently, aberrant pregnancy such as fetal chromosomal aneuploidy, intrauterine growth restriction (IUGR), preeclampsia and so on can find some explanations by the variations of cell-free RNA. Lots of successful results have been reported. [KEY WORDS] Cell-free RNA; Fetal chromosomal aneuploidy; IUGR; Preeclampsia; Non-invasive prenatal diagnosis(NIPD) 自此开辟 了孕妇血浆血清 中游离 RNA 的研究 。孕妇 1 概述