基于胎源遗传物质的唐氏综合征无创性产前诊断研究进展  

The research progression of non-invasive prenatal diagnosis of Down’s syndrome based on the fetal genetic material

作　　者：苏辰[1] 张毅[2] 孙树汉[2] 

机构地区：[1]第二军医大学生物技术队,上海200433 [2]第二军医大学基础部医学遗传学教研室,上海200433

出　　处：《分子诊断与治疗杂志》2011年第2期102-106,共5页Journal of Molecular Diagnostics and Therapy

基　　金：国家科技支撑计划(2006BAI05A05);国家自然科学基金(30901613);上海市自然科学基金(09ZR1439100)

摘　　要：唐氏综合征是常见且严重的染色体异常类出生缺陷,迄今无有效治疗方法,在产前进行筛查与诊断,减少和避免患儿出生是唯一预防措施。目前常用的侵入性诊断方式因存在诸多弊端而被部分孕妇拒绝接受,因此寻找并建立准确且无创的唐氏综合征产前诊断方法是亟待解决的重要临床问题。利用存在于母体外周血中的胎儿遗传物质是近年来开展的无创性产前诊断新途径,本文就利用母血中的胎儿游离核酸进行唐氏综合征的产前诊断作一综述。Down＇s syndrome is frequent and serious birth defects of chromosome abnormality, and there is no effectice therapy methods so far. The only protective measure is the prenatal screening and diagnosis aiming to reduce and avoid the birth of patient infant. At present the common used invasive diagnosis is refused by part of gravidas for the existence of malpractices. Finding and establishing an accurate and atraumatic prenatal diagnosis method of Down＇s syndrome is an important clinical problem . Using the fetal genetic material in maternal peripheral plasma is a new path of non-invasive prenatal diagnosis in the recent years. This paper aims to review the prenatal diagnosis of Down＇s syndrome using the circulating fetal nucleic acid in maternal plasma.

关 键 词：唐氏综合征 无创性产前诊断 DNA RNA SNP 

分 类 号：R714.5[医药卫生—妇产科学]