非侵入性胚胎植入前遗传学检测的研究进展  

Advances in noninvasive preimplantation genetic testing

作　　者：高明[1,2,3] 高媛 GAO Ming;GAO Yuan(Center for Reproductive Medicine,Shandong University,Jinan 250001,China;National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Jinan 250001,China;The Key Laboratory for Reproductive Endocrinology of Ministry of Education,Jinan 250001,China)

机构地区：[1]山东大学生殖医学研究中心,济南250001 [2]国家辅助生殖与优生工程技术研究中心,济南250001 [3]生殖内分泌教育部重点实验室,济南250001

出　　处：《中国科学：生命科学》2020年第6期616-622,共7页Scientia Sinica(Vitae)

基　　金：国家重点研发计划(批准号:2018YFC1003100,2018YFC1004900);山东省重点研发计划(批准号:2017G006035);山东省自然科学基金(批准号:ZR2018PH006,ZR2018MC014)资助。

摘　　要：胚胎植入前遗传学检测(preimplantation genetic testing,PGT)是在胚胎植入前对胚胎染色体及遗传致病基因进行检测,选择正常的胚胎植入到宫腔内,最终实现减少出生缺陷发生的目的.目前,此技术已广泛应用于辅助生殖领域.胚胎培养液及囊胚腔液中游离DNA的发现,引起一系列非侵入性胚胎植入前遗传学检测(noninvasive preimplantation genetic testing,NiPGT)的研究.由于检测方法和检测结果存在一定的差异,仍然需要大量临床试验研究验证NiPGT的临床有效性.本文主要分析Ni PGT最新的研究进展,探讨NiPGT存在的优缺点,并为临床应用提供依据.Preimplantation genetic testing(PGT)involves embryo screening for chromosome abnormalities or inherited disease genes prior to transfer of embryos into the uterine cavity.At present,PGT has been widely performed in assisted reproduction technology(ART)to improve pregnancy rates,reduce birth defects and decrease miscarriage rates.The discovery of free DNA in embryo culture medium and blastocoele fluid has attracted interest from many researchers into noninvasive preimplantation genetic testing(Ni PGT)field.Due to inconsistent results and different analysis methods in different studies,more clinical trials are necessary to verify the clinical availability of Ni PGT.This review mainly analyzes the latest research of Ni PGT,and discusses the advantages and disadvantages of Ni PGT in clinical application.

关 键 词：囊胚腔液 胚胎培养液 游离DNA NiPGT 

分 类 号：R714.8[医药卫生—妇产科学]