Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy
This prospective study evaluated the accuracy of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using cell-free DNA in spent culture medium, as well as that of preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm (TE) biopsy after culturing beyond implant...
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| Veröffentlicht in: | PloS one 2021-02, Vol.16 (2), p.e0246438-e0246438 |
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| creator | Shitara, Akihiro Takahashi, Kazumasa Goto, Mayumi Takahashi, Harunori Iwasawa, Takuya Onodera, Yohei Makino, Kenichi Miura, Hiroshi Shirasawa, Hiromitsu Sato, Wataru Kumazawa, Yukiyo Terada, Yukihiro |
| description | This prospective study evaluated the accuracy of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using cell-free DNA in spent culture medium, as well as that of preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm (TE) biopsy after culturing beyond implantation. Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. PGT-A exhibited 87.5% sensitivity, 77.8% specificity, 87.5% PPV, 75% NPV, 14.3% FPR, and 22.2% FNR. NiPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths. |
| doi_str_mv | 10.1371/journal.pone.0246438 |
| format | Article |
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Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. PGT-A exhibited 87.5% sensitivity, 77.8% specificity, 87.5% PPV, 75% NPV, 14.3% FPR, and 22.2% FNR. NiPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0246438</identifier><identifier>PMID: 33571233</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Abnormalities ; Aneuploidy ; Biology and Life Sciences ; Biopsy ; Cell culture ; Chromosomes ; Computer programs ; Data analysis ; Deoxyribonucleic acid ; Diagnosis ; DNA ; Drafting software ; Editing ; Embryos ; Engineering and Technology ; Fertility ; Funding ; Genetic screening ; Graduate schools ; Graduate studies ; Gynecology ; Medical research ; Medicine ; Medicine and Health Sciences ; Meiosis ; Mosaicism ; Next-generation sequencing ; Obstetrics ; Polymerase chain reaction ; Polyvinylpyrrolidone ; Reproductive health ; Reproductive technologies ; Research and analysis methods ; Reviews ; Software ; Trophectoderm ; University graduates ; Visualization</subject><ispartof>PloS one, 2021-02, Vol.16 (2), p.e0246438-e0246438</ispartof><rights>COPYRIGHT 2021 Public Library of Science</rights><rights>2021 Shitara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. 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Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shitara, Akihiro</au><au>Takahashi, Kazumasa</au><au>Goto, Mayumi</au><au>Takahashi, Harunori</au><au>Iwasawa, Takuya</au><au>Onodera, Yohei</au><au>Makino, Kenichi</au><au>Miura, Hiroshi</au><au>Shirasawa, Hiromitsu</au><au>Sato, Wataru</au><au>Kumazawa, Yukiyo</au><au>Terada, Yukihiro</au><au>Wrenzycki, Christine</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2021-02-11</date><risdate>2021</risdate><volume>16</volume><issue>2</issue><spage>e0246438</spage><epage>e0246438</epage><pages>e0246438-e0246438</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>This prospective study evaluated the accuracy of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using cell-free DNA in spent culture medium, as well as that of preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm (TE) biopsy after culturing beyond implantation. Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. PGT-A exhibited 87.5% sensitivity, 77.8% specificity, 87.5% PPV, 75% NPV, 14.3% FPR, and 22.2% FNR. NiPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>33571233</pmid><doi>10.1371/journal.pone.0246438</doi><tpages>e0246438</tpages><orcidid>https://orcid.org/0000-0003-0293-9372</orcidid><oa>free_for_read</oa></addata></record> |
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| recordid | cdi_plos_journals_2488534858 |
| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS) Journals Open Access; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Abnormalities Aneuploidy Biology and Life Sciences Biopsy Cell culture Chromosomes Computer programs Data analysis Deoxyribonucleic acid Diagnosis DNA Drafting software Editing Embryos Engineering and Technology Fertility Funding Genetic screening Graduate schools Graduate studies Gynecology Medical research Medicine Medicine and Health Sciences Meiosis Mosaicism Next-generation sequencing Obstetrics Polymerase chain reaction Polyvinylpyrrolidone Reproductive health Reproductive technologies Research and analysis methods Reviews Software Trophectoderm University graduates Visualization |
| title | Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-23T16%3A38%3A31IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Cell-free%20DNA%20in%20spent%20culture%20medium%20effectively%20reflects%20the%20chromosomal%20status%20of%20embryos%20following%20culturing%20beyond%20implantation%20compared%20to%20trophectoderm%20biopsy&rft.jtitle=PloS%20one&rft.au=Shitara,%20Akihiro&rft.date=2021-02-11&rft.volume=16&rft.issue=2&rft.spage=e0246438&rft.epage=e0246438&rft.pages=e0246438-e0246438&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0246438&rft_dat=%3Cgale_plos_%3EA651503146%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2488534858&rft_id=info:pmid/33571233&rft_galeid=A651503146&rft_doaj_id=oai_doaj_org_article_d0666bc74d6e4e83b22cd2cbb879fd2d&rfr_iscdi=true |