{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T17:59:27Z","timestamp":1781287167255,"version":"3.54.1"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"vor","delay-in-days":139,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research Grant Council Collaborative Research Fund","award":["C4062-21GF"],"award-info":[{"award-number":["C4062-21GF"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82502033"],"award-info":[{"award-number":["82502033"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research Grant Council General Research Fund","award":["14100822"],"award-info":[{"award-number":["14100822"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,19]]},"abstract":"Abstract<\/jats:title>\n \n STUDY QUESTION<\/jats:title>\n What is the incidence of triploidy and genome-wide uniparental disomy (gwUPD) in human embryos currently undetected by conventional preimplantation genetic testing (PGT)?<\/jats:p>\n <\/jats:sec>\n \n SUMMARY ANSWER<\/jats:title>\n Triploidy and gwUPD were detected in 0.8% (8\/1049) and 1.4% (15\/1049) of blastocysts, respectively.<\/jats:p>\n <\/jats:sec>\n \n WHAT IS KNOWN ALREADY<\/jats:title>\n Concurrent PGT enhances embryo selection by simultaneously detecting monogenic disorders (PGT-M) or structural rearrangements (PGT-SR) and aneuploidy (PGT-A). However, triploidy and gwUPD, two genome-wide abnormalities causative of severe pregnancy outcomes, are not routinely detected by conventional PGT platforms and thus remain under-recognized at the preimplantation stage.<\/jats:p>\n <\/jats:sec>\n \n STUDY DESIGN, SIZE, DURATION<\/jats:title>\n This study consisted of three phases: Phase I validated the detection capability of PGT-Plus on cell lines with previously ascertained genetic abnormalities; Phase II performed retrospective clinical validation on leftover trophectoderm biopsy whole-genome amplification (WGA) samples, including 65 for PGT-M, 67 for PGT-SR, and 130 for PGT-A received during January 2019 and July 2023; and Phase III was prospective implementation of PGT-Plus under a diagnostic setting on 529 blastocysts received from August 2023 to June 2024. Additionally, a cohort consisting of 258 embryo transfers, previously ascertained as euploid by conventional PGT-A methods but associated with unfavorable outcomes, was retested by PGT-Plus, which identified previously undetected cases of gwUPD or triploidy.<\/jats:p>\n <\/jats:sec>\n \n PARTICIPANTS\/MATERIALS, SETTING, METHODS<\/jats:title>\n In Phase I, cell lines with ascertained genetic abnormalities were tested using at least one of the following methods, including G-banded Karyotyping, quantitative fluorescence PCR (QF-PCR), chromosomal microarray analysis (CMA), and mate-pair sequencing. The previous results were compared with those from PGT-Plus. In Phase II, results from conventional PGT platforms were compared in parallel with PGT-Plus to evaluate its accuracy. Cell lines or real trophoblast biopsy samples from blastocysts were amplified by the multiple displacement amplification (MDA) method. PGT-Plus data analysis was performed in various dimensions. For PGT-A analysis, except for canonical read-count analysis to assess the genome dosage, single nucleotide polymorphism (SNP) analysis was also performed to identify triploidy and gwUPD. Furthermore, for families requesting PGT-M and PGT-SR, linkage analysis was carried out for haplotype construction in addition to read-count analysis and SNP analysis. In addition to prospective cohort of Phase III, a unique cohort with adverse reproductive outcomes after transfer of a \u2018euploid\u2019 embryo, as determined by conventional PGT-A platforms, was retested to identify any triploidy and UPD among these copy-number neutral embryos. The unfavorable outcomes included no pregnancy, biochemical pregnancy, miscarriage, and termination of pregnancy due to fetal anomaly.<\/jats:p>\n <\/jats:sec>\n \n MAIN RESULTS AND THE ROLE OF CHANCE<\/jats:title>\n PGT-Plus detected all abnormalities ascertained by prior platforms in Phases I and II. In total, triploidy and gwUPD were detected in 0.8% (8\/1049) and 1.4% (15\/1049) of blastocysts, respectively. Notably, 3.5% (9\/258) of the unfavorable transfers of embryos previously classified as \u2018euploid\u2019 would have been prevented if triploidy and gwUPD were detected. In addition, 45.7% (12\/35) of embryos previously classified as balanced by PGT-SR were translocation carriers.<\/jats:p>\n <\/jats:sec>\n \n LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n PGT-Plus, similar to other relative phasing methods, requires an additional family member for haplotype determination, although an embryo with a known genotype via prior independent testing is also acceptable. In addition, short-read next-generation sequencing (NGS) impedes the capacity of PGT-Plus to directly detect pathogenic SNVs located in highly repetitive regions of the genome, e.g. the HBA1 gene causative of thalassemia, which still require conventional methods, including short tandem repeats and PCR, to safeguard clinical diagnosis or can be addressed by long-read sequencing.<\/jats:p>\n <\/jats:sec>\n \n WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n This newly established PGT-Plus approach additionally detected gwUPD and triploidy in preimplantation embryos. It explained another 3.5% of \u2018euploid\u2019 embryo transfer failures. Meanwhile, embryo selection was enhanced by integrating PGT-M, PGT-SR, or PGT-A with an analysis of parental origin and stage of non-disjunction within a single PGT-Plus workflow.<\/jats:p>\n <\/jats:sec>\n \n STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n This work was funded by the Research Grant Council Collaborative Research Fund (grant no. C4062-21GF to K.W.C.), the National Natural Science Foundation of China (grant no. 82502033 to Y.L.), and the Research Grant Council General Research Fund (grant no. 14100822 to J.P.W.C.). All authors declare that they have no conflicts of interest.<\/jats:p>\n <\/jats:sec>\n \n TRIAL REGISTRATION NUMBER<\/jats:title>\n N\/A.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/hropen\/hoag044","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T12:01:45Z","timestamp":1778760105000},"source":"Crossref","is-referenced-by-count":0,"title":["Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6421-4858","authenticated-orcid":false,"given":"Ying","family":"Li","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University , Zhuhai,","place":["China"]},{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0945-1938","authenticated-orcid":false,"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen,","place":["China"]},{"name":"The Hong Kong Hub of Obstetric and Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"Department of Obstetrics and Gynaecology, Fertility Preservation Research Center, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3684-0450","authenticated-orcid":false,"given":"Ying Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"Department of Medical Genetics, Shandong Provincial Hospital Affiliated to Shandong First Medical University , Jinan,","place":["China"]},{"name":"Prenatal Diagnosis Center, Shandong Provincial Hospital Affiliated to Shandong First Medical University , Jinan,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2917-2108","authenticated-orcid":false,"given":"Bao Heng","family":"Gui","sequence":"additional","affiliation":[{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen,","place":["China"]},{"name":"Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University , Nanning,","place":["China"]},{"name":"The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University , Nanning,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai Ting","family":"Lui","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9885-2667","authenticated-orcid":false,"given":"Ching Man Vivian","family":"Lam","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-1968","authenticated-orcid":false,"given":"Ye","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen,","place":["China"]},{"name":"The Hong Kong Hub of Obstetric and Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"Department of Obstetrics and Gynaecology, Fertility Preservation Research Center, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7515-5502","authenticated-orcid":false,"given":"Teresa Cheuk Yan","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong Cong","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University , Zhuhai,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia Nga Ping","family":"Ip","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4736-8262","authenticated-orcid":false,"given":"David Yiu Leung","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne Ka Yin","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9742-578X","authenticated-orcid":false,"given":"Jacqueline Pui Wah","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"Department of Obstetrics and Gynaecology, Fertility Preservation Research Center, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3616-6200","authenticated-orcid":false,"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics , Hong Kong SAR,","place":["China"]},{"name":"Shenzhen Research Institute, The Chinese University of Hong Kong , Shenzhen,","place":["China"]},{"name":"The Hong Kong Hub of Obstetric and Paediatric Excellence, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]},{"name":"Department of Obstetrics and Gynaecology, Fertility Preservation Research Center, The Chinese University of Hong Kong , Hong Kong SAR,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"2026061213462545100_hoag044-B1","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41436-018-0351-7","article-title":"Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy","volume":"21","author":"Backenroth","year":"2019","journal-title":"Genet Med"},{"key":"2026061213462545100_hoag044-B2","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/pd.5837","article-title":"Uniparental disomy: origin, frequency, and clinical significance","volume":"41","author":"Benn","year":"2021","journal-title":"Prenat Diagn"},{"key":"2026061213462545100_hoag044-B3","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/s10038-018-0444-9","article-title":"Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy","volume":"63","author":"Borgulov\u00e1","year":"2018","journal-title":"J Hum Genet"},{"key":"2026061213462545100_hoag044-B4","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/pd.6151","article-title":"Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects","volume":"42","author":"Cao","year":"2022","journal-title":"Prenat Diagn"},{"key":"2026061213462545100_hoag044-B5","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1093\/humrep\/dead033","article-title":"Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses","volume":"38","author":"Caroselli","year":"2023","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B6","doi-asserted-by":"crossref","first-page":"248","DOI":"10.4103\/aja2021106","article-title":"Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing","volume":"24","author":"Chau","year":"2022","journal-title":"Asian J Androl"},{"key":"2026061213462545100_hoag044-B7","first-page":"236","article-title":"Comprehensive preimplantation genetic testing by massively parallel sequencing","volume":"36","author":"Chen","year":"2021","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B8","doi-asserted-by":"crossref","first-page":"117884","DOI":"10.1016\/j.cca.2024.117884","article-title":"Copy number variation sequencing for the products of conception: what is the optimal testing strategy","volume":"557","author":"Chen","year":"2024","journal-title":"Clin Chim Acta"},{"key":"2026061213462545100_hoag044-B9","doi-asserted-by":"crossref","first-page":"2463","DOI":"10.1002\/ajmg.a.37187","article-title":"Mosaic paternal genome-wide uniparental isodisomy with down syndrome","volume":"167A","author":"Darcy","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2026061213462545100_hoag044-B10","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/s13059-022-02763-2","article-title":"Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts","volume":"23","author":"De Coster","year":"2022","journal-title":"Genome Biol"},{"key":"2026061213462545100_hoag044-B11","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1093\/humrep\/deac088","article-title":"GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction","volume":"37","author":"De Witte","year":"2022","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B12","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1038\/s41436-020-0782-9","article-title":"Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Del Gaudio","year":"2020","journal-title":"Genet Med"},{"key":"2026061213462545100_hoag044-B13","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1016\/j.fertnstert.2016.01.025","article-title":"Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism-based preimplantation genetic screening","volume":"105","author":"Demko","year":"2016","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B14","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1093\/humrep\/dez285","article-title":"Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing","volume":"35","author":"Ding","year":"2020","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B15","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/s00439-020-02210-x","article-title":"Deciphering the complexity of simple chromosomal insertions by genome sequencing","volume":"140","author":"Dong","year":"2021","journal-title":"Hum Genet"},{"key":"2026061213462545100_hoag044-B16","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/dnares\/dsz011","article-title":"Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay","volume":"26","author":"Dong","year":"2019","journal-title":"DNA Res"},{"key":"2026061213462545100_hoag044-B17","doi-asserted-by":"crossref","first-page":"3233","DOI":"10.1038\/s41591-023-02645-5","article-title":"Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss","volume":"29","author":"Essers","year":"2023","journal-title":"Nat Med"},{"key":"2026061213462545100_hoag044-B18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.rbmo.2022.03.014","article-title":"The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages","volume":"45","author":"Finley","year":"2022","journal-title":"Reprod Biomed Online"},{"key":"2026061213462545100_hoag044-B19","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.fertnstert.2013.11.004","article-title":"The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening","volume":"101","author":"Franasiak","year":"2014","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B20","doi-asserted-by":"crossref","first-page":"3357","DOI":"10.1007\/s10815-024-03278-4","article-title":"Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes","volume":"41","author":"Girardi","year":"2024","journal-title":"J Assist Reprod Genet"},{"key":"2026061213462545100_hoag044-B21","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.fertnstert.2013.08.051","article-title":"Uniparental disomy in the human blastocyst is exceedingly rare","volume":"101","author":"Gueye","year":"2014","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B22","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1159\/000526504","article-title":"Prenatal diagnosis and fetal outcome with mosaic genome-wide uniparental disomy","volume":"49","author":"Jawahir-Schonauer","year":"2022","journal-title":"Fetal Diagn Ther"},{"key":"2026061213462545100_hoag044-B23","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41525-025-00471-x","article-title":"Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing","volume":"10","author":"Jiang","year":"2025","journal-title":"NPJ Genom Med"},{"key":"2026061213462545100_hoag044-B24","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1002\/pd.6554","article-title":"Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: implications and outcomes","volume":"44","author":"Johansen","year":"2024","journal-title":"Prenat Diagn"},{"key":"2026061213462545100_hoag044-B25","doi-asserted-by":"crossref","first-page":"e12449","DOI":"10.1002\/rmb2.12449","article-title":"Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping","volume":"21","author":"Kato","year":"2022","journal-title":"Reprod Med Biol"},{"key":"2026061213462545100_hoag044-B26","first-page":"27","article-title":"Accurate detection and frequency of abnormal ploidy in the human blastocyst","volume":"4","author":"Kratka","year":"2023","journal-title":"F S Sci"},{"key":"2026061213462545100_hoag044-B27","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ejogrb.2019.03.004","article-title":"Molecular investigation of uniparental disomy (UPD) in spontaneous abortions","volume":"236","author":"Lalou","year":"2019","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"2026061213462545100_hoag044-B28","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.3390\/jcm12051809","article-title":"A novel system for the detection of spontaneous abortion-causing aneuploidy and its erroneous chromosome origins through the combination of low-pass copy number variation sequencing and NGS-based STR tests","volume":"12","author":"Lei","year":"2023","journal-title":"J Clin Med"},{"key":"2026061213462545100_hoag044-B29","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1007\/s43032-021-00747-4","article-title":"Recurrent androgenetic complete hydatidiform moles with p57KIP2-positive in a Chinese family","volume":"29","author":"Li","year":"2022","journal-title":"Reprod Sci"},{"key":"2026061213462545100_hoag044-B30","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.fertnstert.2019.06.015","article-title":"Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages","volume":"112","author":"Maisenbacher","year":"2019","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B31","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.rbmo.2017.12.015","article-title":"Validation of a targeted next generation sequencing-based comprehensive chromosome screening platform for detection of triploidy in human blastocysts","volume":"36","author":"Marin","year":"2018","journal-title":"Reprod Biomed Online"},{"key":"2026061213462545100_hoag044-B32","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/cge.14003","article-title":"Triploid pregnancy\u2014clinical implications","volume":"100","author":"Massalska","year":"2021","journal-title":"Clin Genet"},{"key":"2026061213462545100_hoag044-B33","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1007\/s00404-020-05515-4","article-title":"Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review","volume":"301","author":"Massalska","year":"2020","journal-title":"Arch Gynecol Obstet"},{"key":"2026061213462545100_hoag044-B34","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.1093\/nar\/gkac134","article-title":"Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing","volume":"50","author":"Masset","year":"2022","journal-title":"Nucleic Acids Res"},{"key":"2026061213462545100_hoag044-B35","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/pd.5895","article-title":"Genome-wide abnormalities in embryos: origins and clinical consequences","volume":"41","author":"Masset","year":"2021","journal-title":"Prenat Diagn"},{"key":"2026061213462545100_hoag044-B3091014","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1093\/humrep\/dez106","article-title":"Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing","volume":"34","author":"Masset","year":"2019","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B36","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1093\/humrep\/dex215","article-title":"Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach","volume":"32","author":"Minasi","year":"2017","journal-title":"Hum Reprod"},{"key":"2026061213462545100_hoag044-B37","first-page":"127","article-title":"The frequency of chromosomal euploidy among 3PN embryos","volume":"20","author":"Mutia","year":"2019","journal-title":"J Reprod Infertil"},{"key":"2026061213462545100_hoag044-B38","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1007\/s10815-018-1389-9","article-title":"Hydatidiform molar pregnancy following assisted reproduction","volume":"36","author":"Nickkho-Amiry","year":"2019","journal-title":"J Assist Reprod Genet"},{"key":"2026061213462545100_hoag044-B39","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13039-025-00707-6","article-title":"Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report","volume":"18","author":"Okonkwo","year":"2025","journal-title":"Mol Cytogenet"},{"key":"2026061213462545100_hoag044-B40","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1080\/14767058.2019.1702963","article-title":"Early prenatal detection of triploidy: a 9-year experience in mainland China","volume":"34","author":"Pan","year":"2021","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2026061213462545100_hoag044-B41","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/pd.789","article-title":"Effects of triploidy on early human development","volume":"24","author":"Philipp","year":"2004","journal-title":"Prenat Diagn"},{"key":"2026061213462545100_hoag044-B42","doi-asserted-by":"crossref","first-page":"2665","DOI":"10.1016\/j.ajhg.2025.09.014","article-title":"Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans","volume":"112","author":"Picchetta","year":"2025","journal-title":"Am J Hum Genet"},{"key":"2026061213462545100_hoag044-B43","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/clinchem\/hvae146","article-title":"Mate-pair sequencing enables identification and delineation of balanced and unbalanced structural variants in prenatal cytogenomic diagnostics","volume":"71","author":"Qian","year":"2025","journal-title":"Clin Chem"},{"key":"2026061213462545100_hoag044-B44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/14767058.2017.1367379","article-title":"Exploring the cause of early miscarriage with SNP-array analysis and karyotyping","volume":"32","author":"Qu","year":"2019","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2026061213462545100_hoag044-B45","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.fertnstert.2007.06.031","article-title":"Mechanisms giving rise to triploid zygotes during assisted reproduction","volume":"90","author":"Rosenbusch","year":"2008","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B46","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1038\/s41436-020-01092-8","article-title":"Uniparental disomy in a population of 32,067 clinical exome trios","volume":"23","author":"Scuffins","year":"2021","journal-title":"Genet Med"},{"key":"2026061213462545100_hoag044-B47","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1002\/ajmg.a.32352","article-title":"Long-term survival in a 69, XXX triploid premature infant","volume":"146A","author":"Takabachi","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2026061213462545100_hoag044-B48","first-page":"e1","article-title":"Management of gestational trophoblastic disease","volume":"128","author":"Tidy","year":"2021","journal-title":"BJOG"},{"key":"2026061213462545100_hoag044-B49","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1755-8166-7-33","article-title":"Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory","volume":"7","author":"Wang","year":"2014","journal-title":"Mol Cytogenet"},{"key":"2026061213462545100_hoag044-B50","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1111\/cge.12926","article-title":"Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study","volume":"91","author":"Wang","year":"2017","journal-title":"Clin Genet"},{"key":"2026061213462545100_hoag044-B51","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/uog.20412","article-title":"Systematic analysis of copy-number variations associated with early pregnancy loss","volume":"55","author":"Wang","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2026061213462545100_hoag044-B52","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N Engl J Med"},{"key":"2026061213462545100_hoag044-B53","doi-asserted-by":"crossref","first-page":"85","DOI":"10.2147\/TACG.S461674","article-title":"Application of chromosomal microarray analysis in genetic reasons of miscarriage tissues","volume":"17","author":"Xu","year":"2024","journal-title":"Appl Clin Genet"},{"key":"2026061213462545100_hoag044-B54","doi-asserted-by":"crossref","first-page":"21719","DOI":"10.1038\/s41598-023-48358-0","article-title":"Genetic analysis of chorionic villus tissues in early missed abortions","volume":"13","author":"Xue","year":"2023","journal-title":"Sci Rep"},{"key":"2026061213462545100_hoag044-B55","doi-asserted-by":"crossref","first-page":"15964","DOI":"10.1073\/pnas.1523297113","article-title":"Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next generation sequencing with linkage analyses","volume":"112","author":"Yan","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2026061213462545100_hoag044-B56","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/s41436-019-0704-x","article-title":"Accurate detection of clinically relevant uniparental disomy from exome sequencing data","volume":"22","author":"Yauy","year":"2020","journal-title":"Genet Med"},{"key":"2026061213462545100_hoag044-B57","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.04.011","article-title":"Concurrent whole-genome haplotyping and copy-number profiling of single cells","volume":"96","author":"Zamani Esteki","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2026061213462545100_hoag044-B58","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1086\/302951","article-title":"Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole","volume":"66","author":"Zaragoza","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2026061213462545100_hoag044-B59","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.fertnstert.2017.06.005","article-title":"The international glossary on infertility and fertility care, 2017","volume":"108","author":"Zegers-Hochschild","year":"2017","journal-title":"Fertil Steril"},{"key":"2026061213462545100_hoag044-B60","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/1471-0528.15052","article-title":"Traditional and molecular chromosomal abnormality analysis of products of conception in spontaneous and recurrent miscarriage","volume":"125","author":"Zhang","year":"2018","journal-title":"BJOG"},{"key":"2026061213462545100_hoag044-B61","doi-asserted-by":"crossref","first-page":"112337","DOI":"10.1016\/j.isci.2025.112337","article-title":"Origin and development of uniparental and polyploid blastomeres","volume":"28","author":"Zhao","year":"2025","journal-title":"iScience"}],"container-title":["Human Reproduction Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hropen\/advance-article-pdf\/doi\/10.1093\/hropen\/hoag044\/68341746\/hoag044.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hropen\/article-pdf\/2026\/3\/hoag044\/68341746\/hoag044.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hropen\/article-pdf\/2026\/3\/hoag044\/68341746\/hoag044.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T17:46:41Z","timestamp":1781286401000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hropen\/article\/doi\/10.1093\/hropen\/hoag044\/8687831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":62,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5,19]]}},"URL":"https:\/\/doi.org\/10.1093\/hropen\/hoag044","relation":{},"ISSN":["2399-3529"],"issn-type":[{"value":"2399-3529","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"hoag044"}}