{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T08:52:18Z","timestamp":1793436738799,"version":"4.5.0"},"reference-count":140,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100020895","name":"Temerty Faculty of Medicine, University of Toronto","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/501100020895","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Aneuploidy accounts for many pregnancy failures and congenital anomalies. Preimplantation genetic testing for aneuploidy (PGT-A) is a screening test applied to embryos created from in vitro fertilization to diminish the chance of an aneuploid conception. The rate of misdiagnosis for both false aneuploidy (false positive) and false euploidy (false negative) test results is unknown. The objective of this study was to determine the rate of misclassification of both aneuploidy and euploidy after PGT-A.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Data sources<\/jats:title>\n                    <jats:p>We conducted a systematic review and meta-analysis. We searched Medline, Embase, Cochrane Central, CINAHL and WHO Clinical Trials Registry from inception until April 10, 2024. The protocol was registered in International Prospective Register of Systematic Reviews (PROSPERO CRD 42020219074).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Methods of study selection<\/jats:title>\n                    <jats:p>We included studies that conducted either a pre-clinical validation of the genetic platform for PGT-A using a cell line, studies that compared the embryo biopsy results to those from the whole dissected embryo or its inner cell mass (WE\/ICM), and studies that compared the biopsy results to prenatal or postnatal genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Tabulation, Integration, and Results<\/jats:title>\n                    <jats:p>\n                      Two independent reviewers extracted true and false positives and negatives comparing biopsy results to the reference standard (known karyotype, WE\/ICM, pregnancy outcome). For preclinical studies, the main outcome was the positive and negative predictive values. Misdiagnosis rate was the outcome for pregnancy outcome studies. The electronic search yielded 6674 citations, of which 109 were included. For WE\/ICM studies (n=40), PPV was 89.2% (95% CI 83.1-94.0) and NPV was 94.2% (95% CI 91.1-96.7, I\n                      <jats:sup>2<\/jats:sup>\n                      =42%) for aneuploid and euploid embryos, respectively. The PPV for mosaic embryos of either a confirmatory mosaic or aneuploid result was 52.8% (95% CI 37.9-67.5). For pregnancy outcome studies (n=43), the misdiagnosis rate after euploid embryo transfer was 0.2% (95% CI 0.0-0.7%, I\n                      <jats:sup>2<\/jats:sup>\n                      =65%). However, the rate for mosaic transfer, with a confirmatory euploid pregnancy outcome, was 21.7% (95% CI: 9.6-36.9, I\n                      <jats:sup>2<\/jats:sup>\n                      =95%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec005\">\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The accuracy of an aneuploid result from PGT-A is excellent and can be relied upon as a screening tool for embryos to avoid aneuploid pregnancies. Similarly, the misdiagnosis rate after euploid embryo transfer is less than 1%. However, there is a significant limitation in the accuracy of mosaic embryos.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1371\/journal.pone.0321859","type":"journal-article","created":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T13:49:21Z","timestamp":1747230561000},"page":"e0321859","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":8,"title":["A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy"],"prefix":"10.1371","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6816-5616","authenticated-orcid":true,"given":"Vanessa","family":"Bacal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5896-6635","authenticated-orcid":true,"given":"Angela","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8380-3586","authenticated-orcid":true,"given":"Heather","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urvi","family":"Rana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda","family":"Zwingerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Avery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Palermo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Philipoppolous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystal","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"issue":"2","key":"pone.0321859.ref001","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/humrep\/deu303","article-title":"The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review","volume":"30","author":"E Lee","year":"2015","journal-title":"Hum Reprod"},{"issue":"5","key":"pone.0321859.ref002","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S1701-2163(15)30261-9","article-title":"RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening","volume":"37","author":"EM Dahdouh","year":"2015","journal-title":"J Obstet Gynaecol Can"},{"issue":"5","key":"pone.0321859.ref003","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.fertnstert.2017.03.024","article-title":"Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing","volume":"107","author":"S Munn\u00e9","year":"2017","journal-title":"Fertil Steril"},{"issue":"5","key":"pone.0321859.ref004","doi-asserted-by":"crossref","first-page":"103852","DOI":"10.1016\/j.ejmg.2020.103852","article-title":"Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer","volume":"63","author":"J Friedenthal","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"6","key":"pone.0321859.ref005","doi-asserted-by":"crossref","DOI":"10.1016\/j.fertnstert.2016.08.017","article-title":"Why do euploid embryos miscarry? 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