妊娠早期基于游离胎儿细胞DNA检测非整倍性染色体的研究进展  

Research Progress of Aneuploidy Detection Based on Cell-free Fetal DNA in the First Trimster of Pregnancy

作　　者：马冬 佟文秀 张艳梅[2] 姜杰[2] 李琪 李鸥[2] 

机构地区：[1]华北理工大学,河北省煤炭职业卫生与安全重点实验室,河北省唐山市063000 [2]唐山工人医院妇产科

出　　处：《中国全科医学》2015年第30期3732-3735,共4页Chinese General Practice

基　　金：河北省自然科学基金资助项目(H2014105093)

摘　　要：非整倍性染色体是围生期发病率和死亡率的主要原因。在妊娠早期,以较低的检测成本实现最大限度的检测率和最低的假阳性率,且减少不必要的侵入是产前筛查方法的主要目的。除血清学、超声学及综合筛查方法外,利用母体血浆中游离胎儿细胞DNA(cff DNA)建立的无创基因检测方法具有更加快速、准确的特点,愈来愈受到重视。本文就非整倍性染色体异常的基因检测方法研究进展做一综述,以期为有效地控制染色体异常患儿的出生和提高人口素质提供有力技术支撑。Aneuploidiy is a major cause for perinatal morbidity and mortality. In the first trimester of pregnancy,the main purpose of prenatal screening method is to achieve maximum detection rate and low false positive rate, and reduce unnecessary invasive procedures at a relatively low cost. Besides the serology,ultrasound and comprehensive screening method,the non- invasive gene detection method using cell- free fetal DNA（ cff DNA） in maternal plasma is more rapid and accurate. In this paper,we reviewed the research progress of detection method for aneuploid chromosome abnormality,in order to effectively control the birth of infants with chromosome abnormalities and to provide technical support for the improvement of population quality.

关 键 词：产前诊断 染色体畸变 无创产前DNA检测 游离胎儿细胞DNA 

分 类 号：R596.1[医药卫生—内科学]