Noninvasive preimplantation genetic testing in assisted reproductive technology:current state and future perspectives  

作　　者：Jingyi Li Yifeng Liu Yuli Qian Dan Zhang 

机构地区：[1]Key Laboratory of Reproductive Genetics(Ministry of Education)and Department of Reproductive Endocrinology,Women's Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310006,China [2]Key Laboratory of Women's Reproductive Health of Zhejiang Province,Hangzhou,Zhejiang 310006,China

出　　处：《Journal of Genetics and Genomics》2020年第12期723-726,共4页遗传学报（英文版）

基　　金：We thank professors Cynthia Casson Morton and Yiping Shen from Harvard Medical School and professor Sharon YC Ruan from Hong Kong Polytechnic University for revising the manuscript.This work was supported by the National Key Research and Development Program of China(2018YFC1005003);the National Natural Science Foundation of China(81974224,81771535);the Natural Science Foundation of Zhejiang Province(LZ18H040001,LQ19H040007);Zhejiang Provincial Key Medical Technology Program(WKJ-ZJ-1826);Zhejiang University Education Foundation Global Partnership Fund.The authors declared no conflict of interest.

摘　　要：Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm(TE)cells has been in use for more than 20 years,while its benefits in selecting euploid embryos remain controversial.Recent advances in the ability to process embryonic cell-free DNA(cfDNA)from blastocoel fluid(BF)and spent culture media(SCM)of blastocysts in a manner similar to that of a biopsied TE sample provide a potential alternative holding great promise for obtaining cytogenetic information of the embryos without intrusive biopsy of traditional biopsy-based pre-implantation genetic testing(PGT).Several studies have reported even higher diagnostic accuracy in non-invasive PGT(ni-PGT)than conventional PGT.However,there are still several technical challenges to be overcome before ni-PGT can be accepted as a reliable genomic information source of embryo.In this review,we have summarized the emergence and current state of ni-PGT,and discussed our own perspectives on their limitations and future prospect.There is still a long way to go before truly wide clinical application of ni-PGT.

关 键 词：Pre-implantation genetic testing Spent culture media Blastocoel fluid Cell-free DNA Non-invasive PGT 

分 类 号：R714.8[医药卫生—妇产科学] R440[医药卫生—临床医学]