唐氏综合征产前诊断研究进展,修订.doc

唐氏综合征产前诊断研究进展 覃 婷（综述） 施月秋（审校） 作者单位：530021 南宁 广西壮族自治区人民医院产科 作者简介：覃 婷（1974—），女，大学本科，硕士学位，主治医师，研究方向：妇产科。E-mail:gxqinting@ 摘要：我国每年约有3万唐氏综合征患儿出生，在各种出生缺陷中排第三位，是最常见的染色体异常。为了减少唐氏综合征患儿的出生，近年绒毛，羊水，脐血介入性产前诊断广泛开展，使部分唐氏综合征得到产前诊断，并治疗性引产，减少了唐氏综合征患儿的出生，但侵入性手术操作的风险和漫长的等待结果的时间给孕妇造成了巨大的心理压力。因此植入前产前诊断，分离孕妇外周血中胎儿有核红细胞，分离孕妇血浆中胎儿游离DNA,宫颈管内滋养细胞等新技术正在展开研究，已经成功地无创性获取胎儿细胞或DNA样本。荧光定量PCR，荧光原位杂交技术（FISH），引物原位标记技术(PRINS)，微阵列一比较基因组杂交等分子生物学技术为快速，准确诊断唐氏综合征开辟了新前景。现就唐氏综合征产前诊断基础性研究及临床应用的进展情况作一综述。 [关键词]：唐氏综合征 产前诊断 [中图分类号] R596.1 [文献标识码] A [文章编号] 1674-3806(2009) A review on Prenatal Diagnosis of Down Syndrome QIN Ting (Summarize), SHI Yue-qiu (Revise) .Department of Gynecology Obstetrics of Peoples Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021,China 【Abstract】Every year, there are about 30 thousand babies born with D in China, which ranks the third among all kinds of birth defects. In order to reduce the birth of babies with DS, the interventional prenatal diagnoses, such as chorionic villus sampling, amniocentesis and cordocentesis, have been widely carried out in recent years, which has reduced the birth of babies with DS.However, the risk of invasive operation and the long period of waiting will cause the heavy mental pressure of pregnant women. Therefore, the study on a series of new techniques has been developed, including preimplantation genetic diagnosis, isolation of fetal nucleated red blood cells from maternal peripheral blood, isolation of cell-free fetal DNA in maternal plasma, endocervical fetal trophoblast. The fetal cells or DNA samples have been successfully obtained with those non-invasive methods. Moreover, the techniques of molecular biology have brought new prospects to the rapid and accurate diagnosis of DS, including fluorescence quantitative polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), primed in situ labeling (PRINS) and array comparative genomic hybridization (Array-CGH). In this paper, we aim to make a summary on the progr