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...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.展开更多
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)+2 种基金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.
文摘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.
