摘要
唐氏综合征(DS)指胎儿染色体中多了一条21号染色体,目前尚无有效治疗方法,最有效的办法就是产前终止妊娠。临床上常对高危孕妇行产前筛查,以预防和减少DS患儿出生。目前我国对于胎儿DS的产前筛查及诊断一般结合孕妇的高危因素,辅以妊娠期超声检查、血清标志物筛查以及羊水细胞染色体检查等一系列相关检测。目前多种产前筛查DS的方法较多更新也较快,但是目前检测方法存在阳性率低、敏感性差、有创性以及费用昂贵等各种因素,所以针对DS寻找一种无创伤高效的检测方法是今后研究的方向。
There is currently no effective treatment Down syndrome（ DS）,which refers to the disease of fetus having an extra chromosome 21. Prenatal screening for high-risk pregnant women is usually done to prevent and reduce DS. Currently high risk factors of the pregnant plus ultrasound examination,serum markers screening and chromosome examination of amniotic fluid cells are adopted in prenatal screening for DS in China,which are updating fast,though there are still shortcomings such as low positive rate,poor sensitivity,invasiveness and high cost,therefore,finding a non-invasive and efficient detection method for DS is the direction of future research.
出处
《医学综述》
2016年第1期125-129,共5页
Medical Recapitulate
关键词
唐氏综合征
产前筛查
产前诊断
Down syndrome
Prenatal screening
Prenatal diagnosis
