21-三体综合征产前筛查及诊断技术的研究进展  

Current progress in the detection technologies for prenatal screening and diagnosis of trisomy 21

作　　者：王坦 蔺春茂 尹焕才[3] 殷建 WANG Tan;LIN ChunMao;YIN HuanCai;YIN Jian(Collage of Life Sciences,Shandong Normal University,Jinan 250000,China;Jinan Guoke Medical Technology Development Co.Ltd,Jinan 250101,China;Suzhou Institute of Biomedical Engineering and Technology,Chinese Academy of Sciences,Suzhou 215000,China)

机构地区：[1]山东师范大学生命科学学院,济南250000 [2]济南国科医工科技发展有限公司,济南250101 [3]中国科学院苏州生物医药工程技术研究所,苏州215000

出　　处：《中国科学：生命科学》2024年第7期1173-1182,共10页Scientia Sinica(Vitae)

基　　金：国家自然科学基金面上项目(批准号:22176208);苏州市基础研究试点项目(批准号:SJC2021018)资助。

摘　　要：21-三体综合征(Down syndrome,DS)是目前最为常见的染色体异常疾病,是胎儿流产、畸形、发育异常及夭折的主要原因之一.由于目前尚无有效治疗手段,仅可通过引流终止妊娠,因此提前检测至关重要.研究者已开发出多种产前筛查与诊断技术,并将其中部分推广为临床诊断中的必备方案,但其灵敏度、准确度及成本仍需进一步优化.与此同时,深入探索21-三体综合征发病机制与分子生物学特征,建立无创、高灵敏、高准确性的检测方案,并确定其适用孕期,应成为21-三体综合征产前筛查与诊断技术发展的未来方向.Trisomy 21(Down syndrome,DS)is one of the most common chromosomal abnormalities,which is considered as a major cause of fetal abortion,malformation,abnormality,and death.So far,there is no effective way for the treatment of children with DS,abortion is the only acceptable method.Therefore,prenatal detection would be necessary.Researchers have developed a variety of prenatal screening and diagnostic techniques,and some of these have been applied in clinical detection,but their sensitivity,accuracy,and costs require further optimization.At the same time,investigating the pathogenic mechanism and biological characteristics of DS and establishing non-invasive diagnostic methods with high sensitivity and high accuracy for DS would be necessary in the future.

关 键 词：21-三体综合征 染色体异常 产前筛查 产前诊断 检测技术 

分 类 号：R714.5[医药卫生—妇产科学]