无创胚胎植入前遗传学检测技术进展研究  

Research on the progress of non-invasive preimplantation genetic testing technique

作　　者：王嘉祥 田甜 张楠[1] 韩子川 杨蕊[1,2,3,4,5] WANG Jia-xiang;TIAN Tian;ZHANG Nan;HAN Zi-chuan;YANG Rui(Center for Reproductive Medicine,Department of Obstetrics&Gynecology,Peking University Third Hospital,Beijing 100191;National Clinical Research Center for Obstetrics&Gynecology(Peking University Third Hospital),Beijing 100191;State Key Laboratory of Female Fertility Promotion,Beijing 100191;Key Laboratory of Assisted Reproduction(Peking University),Ministry of Education,Beijing 100191;Beijing Key Laboratory of Reproductive Endocrinology&Assisted Reproductive Technology,Beijing 100191)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,北京100191 [2]北京大学第三医院国家妇产疾病临床医学研究中心,北京100191 [3]北京大学第三医院女性生育力促进全国重点实验室,北京100191 [4]北京大学第三医院辅助生殖教育部重点实验室(北京大学),北京100191 [5]北京大学第三医院北京市生殖内分泌与辅助生殖技术重点实验室,北京100191

出　　处：《生殖医学杂志》2024年第7期965-970,共6页Journal of Reproductive Medicine

基　　金：国家重点研发计划课题(2021YFC2700605);北京市科技计划(Z191100006619085);国家自然科学基金项目(82171632)。

摘　　要：胚胎植入前遗传学检测(PGT)是辅助生殖与遗传学检测技术相结合的一种胚胎诊断检测技术,在移植前筛查胚胎染色体以排除染色体异常的胚胎。但是由于目前该技术复杂昂贵,且有创操作可能存在安全风险,所以该技术在临床的应用受到一定限制。因此,人们开始探索利用囊胚腔液和胚胎培养液中发现的游离DNA进行无创PGT。作为更加安全和便捷的基因检测技术,目前无创PGT已经在胚胎染色体检测等方面取得了一定进展,但现有的研究结果之间差异较大,临床应用的有效性仍存在争议。本文就游离DNA的来源及产生机制、无创PGT的临床研究现状进行综述,为无创PGT应用于临床实践提供参考。Preimplantation genetic testing(PGT)is a diagnostic testing technique that combines assisted reproduction and genetic testing techniques to screen embryo chromosomes before implantation to exclude embryos with chromosomal abnormalities.However,due to the complexity and cost of this technology and the potential safety implications of invasive procedures,its widespread clinical application is limited.Therefore,researchers began to explore the use of free DNA found in blastocoel fluid and embryo culture fluid for non-invasive PGT.As a safer and more convenient genetic testing technology,non-invasive PGT has made some progress in embryonic chromosome detection,but there are significant differences in existing research results,and the effectiveness of its clinical application remains controversial.This article summarizes the sources and mechanisms of free DNA and the current status of clinical research on noninvasive PGT,providing a reference for the application of noninvasive PGT in clinical practice.

关 键 词：无创胚胎植入前遗传学检测 游离DNA 胚胎培养液 囊胚腔液 遗传污染 

分 类 号：R714.5[医药卫生—妇产科学]