{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T15:43:23Z","timestamp":1774453403565,"version":"3.50.1"},"reference-count":38,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T00:00:00Z","timestamp":1635811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31801245"],"award-info":[{"award-number":["31801245"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Spontaneous abortion is an impeding factor for the success rates of human assistant reproductive technology (ART). Causes of spontaneous abortion include not only the pregnant mothers\u2019 health conditions and lifestyle habits, but also the fetal development potential. Evidences had shown that fetal chromosome aneuploidy is associated with fetal spontaneous abortion, however, it is still not definite that whether other genome variants, like copy number variations (CNVs) or loss of heterozygosity (LOHs) is associated with the spontaneous abortion. To assess the relationship between the fetal genome variants and abortion during ART, a chromosomal microarray data including chromosomal information of 184 spontaneous aborted fetuses, 147 adult female patients and 78 adult male patients during ART were collected. We firstly analyzed the relationship of fetal aneuploidy with maternal ages and then compared the numbers and lengths of CNVs (&lt; 4Mbp) and LOHs among adults and aborted fetuses. In addition to the already known association between chromosomal aneuploidy and maternal ages, from the chromosomal microarray data we found that the numbers and the accumulated lengths of short CNVs and LOHs in the aborted fetuses were significantly larger or longer than those in adults. Our findings indicated that the increased numbers and accumulated lengths of CNVs or LOHs might be associated with the spontaneous abortion during ART.<\/jats:p>","DOI":"10.1371\/journal.pone.0259518","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T18:00:07Z","timestamp":1635876007000},"page":"e0259518","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":5,"title":["Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis"],"prefix":"10.1371","volume":"16","author":[{"given":"Sen","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei-Ling","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing-Hua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Jing","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Long","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xie","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang-Hong","family":"Ou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3339-7863","authenticated-orcid":true,"given":"Jun-Yu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2021,11,2]]},"reference":[{"issue":"4","key":"pone.0259518.ref001","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1056\/NEJM198807283190401","article-title":"Incidence of early loss of pregnancy","volume":"319","author":"AJ Wilcox","year":"1988","journal-title":"The New England journal of medicine"},{"issue":"4","key":"pone.0259518.ref002","doi-asserted-by":"crossref","first-page":"e229","DOI":"10.1016\/j.fertnstert.2019.08.096","article-title":"Reprint of: Estimates of human fertility and pregnancy loss","volume":"112","author":"MJ Zinaman","year":"2019","journal-title":"Fertility and sterility"},{"issue":"4","key":"pone.0259518.ref003","doi-asserted-by":"crossref","first-page":"195","DOI":"10.5603\/GP.a2019.0035","article-title":"The effects of threatened abortions on pregnancy outcomes","volume":"90","author":"AG Kanmaz","year":"2019","journal-title":"Ginekologia polska"},{"issue":"5","key":"pone.0259518.ref004","first-page":"959","article-title":"Spontaneous abortion among pregnancies conceived using assisted reproductive technology in the United States","volume":"101","author":"LA Schieve","year":"2003","journal-title":"Obstetrics and gynecology"},{"issue":"4","key":"pone.0259518.ref005","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1093\/humupd\/dmv016","article-title":"Infertility around the globe: new thinking on gender, reproductive technologies and global movements in the 21st century","volume":"21","author":"MC Inhorn","year":"2015","journal-title":"Human reproduction update"},{"issue":"6","key":"pone.0259518.ref006","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.fertnstert.2018.06.039","article-title":"International Committee for Monitoring Assisted Reproductive Technology: world report on assisted reproductive technology, 2011","volume":"110","author":"GD Adamson","year":"2018","journal-title":"Fertility and sterility"},{"key":"pone.0259518.ref007","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1146\/annurev.ge.18.120184.000441","article-title":"Trisomy in man","volume":"18","author":"TJ Hassold","year":"1984","journal-title":"Annual review of genetics"},{"issue":"6","key":"pone.0259518.ref008","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1086\/324468","article-title":"The origin of abnormalities in recurrent aneuploidy\/polyploidy","volume":"69","author":"WP Robinson","year":"2001","journal-title":"American journal of human genetics"},{"issue":"7","key":"pone.0259518.ref009","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.tig.2017.04.001","article-title":"Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm.","volume":"33","author":"RC McCoy","year":"2017","journal-title":"Trends in genetics: TIG"},{"issue":"5","key":"pone.0259518.ref010","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1016\/j.fertnstert.2017.02.119","article-title":"Chromosomal mosaicism detected during preimplantation genetic screening: results of a worldwide Web-based survey","volume":"107","author":"A Weissman","year":"2017","journal-title":"Fertility and sterility"},{"issue":"3","key":"pone.0259518.ref011","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.gde.2012.02.012","article-title":"Mechanisms for recurrent and complex human genomic rearrangements","volume":"22","author":"P Liu","year":"2012","journal-title":"Current opinion in genetics & development"},{"issue":"1","key":"pone.0259518.ref012","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1755-8417-1-4","article-title":"Mechanisms for human genomic rearrangements.","volume":"1","author":"W Gu","year":"2008","journal-title":"PathoGenetics."},{"issue":"9","key":"pone.0259518.ref013","doi-asserted-by":"crossref","first-page":"e1002981","DOI":"10.1371\/journal.pgen.1002981","article-title":"De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining","volume":"8","author":"MF Arlt","year":"2012","journal-title":"PLoS genetics."},{"issue":"19","key":"pone.0259518.ref014","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddp306","article-title":"Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture","volume":"18","author":"LE Vissers","year":"2009","journal-title":"Human molecular genetics"},{"issue":"3","key":"pone.0259518.ref015","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.gde.2012.01.009","article-title":"Replication stress and mechanisms of CNV formation","volume":"22","author":"MF Arlt","year":"2012","journal-title":"Current opinion in genetics & development"},{"issue":"1","key":"pone.0259518.ref016","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1534\/genetics.116.191205","article-title":"Remarkably Long-Tract Gene Conversion Induced by Fragile Site Instability in Saccharomyces cerevisiae","volume":"204","author":"SA Chumki","year":"2016","journal-title":"Genetics"},{"issue":"17","key":"pone.0259518.ref017","doi-asserted-by":"crossref","first-page":"8988","DOI":"10.1073\/pnas.94.17.8988","article-title":"Loss of heterozygosity induced by a chromosomal double-strand break","volume":"94","author":"ME Moynahan","year":"1997","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"7","key":"pone.0259518.ref018","doi-asserted-by":"crossref","first-page":"859","DOI":"10.4161\/cc.7.7.5613","article-title":"Break-induced replication: what is it and what is it for?","volume":"7","author":"B Llorente","year":"2008","journal-title":"Cell cycle"},{"issue":"4","key":"pone.0259518.ref019","doi-asserted-by":"crossref","first-page":"e1000752","DOI":"10.1371\/journal.pcbi.1000752","article-title":"Accurate distinction of pathogenic from benign CNVs in mental retardation","volume":"6","author":"JY Hehir-Kwa","year":"2010","journal-title":"PLoS computational biology"},{"key":"pone.0259518.ref020","article-title":"Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1\/2: results of the observational AGO-TR1 study (NCT02222883).","author":"J Hauke","year":"2020","journal-title":"Journal of medical genetics"},{"issue":"8","key":"pone.0259518.ref021","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/ajmg.b.32266","article-title":"A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model","volume":"165B","author":"DS Rudd","year":"2014","journal-title":"American journal of medical genetics Part B, Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics"},{"issue":"6","key":"pone.0259518.ref022","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"WJ Kent","year":"2002","journal-title":"Genome research"},{"key":"pone.0259518.ref023","doi-asserted-by":"crossref","first-page":"D936","DOI":"10.1093\/nar\/gks1213","article-title":"DbVar and DGVa: public archives for genomic structural variation","volume":"41","author":"I Lappalainen","year":"2013","journal-title":"Nucleic acids research"},{"issue":"9","key":"pone.0259518.ref024","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay","volume":"43","author":"GM Cooper","year":"2011","journal-title":"Nature genetics"},{"key":"pone.0259518.ref025","doi-asserted-by":"crossref","first-page":"25954","DOI":"10.1038\/srep25954","article-title":"CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens","volume":"6","author":"B Wang","year":"2016","journal-title":"Scientific reports"},{"issue":"3","key":"pone.0259518.ref026","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1093\/humupd\/dmn063","article-title":"The current knowledge on radiosensitivity of ovarian follicle development stages","volume":"15","author":"I Adriaens","year":"2009","journal-title":"Human reproduction update"},{"issue":"4","key":"pone.0259518.ref027","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1093\/humrep\/16.4.632","article-title":"Administration of cyclophosphamide at different stages of follicular maturation in mice: effects on reproductive performance and fetal malformations","volume":"16","author":"D Meirow","year":"2001","journal-title":"Human reproduction"},{"issue":"1","key":"pone.0259518.ref028","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/0027-5107(82)90191-9","article-title":"Induction of congenital anomalies in offspring of female mice exposed to varying doses of X-rays","volume":"106","author":"M Kirk","year":"1982","journal-title":"Mutation research"},{"issue":"1","key":"pone.0259518.ref029","doi-asserted-by":"crossref","first-page":"R15","DOI":"10.1530\/REP-16-0069","article-title":"DNA damage responses in mammalian oocytes","volume":"152","author":"JK Collins","year":"2016","journal-title":"Reproduction"},{"issue":"11","key":"pone.0259518.ref030","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1002\/mrd.23424","article-title":"Sperm chromatin condensation and single- and double-stranded DNA damage as important parameters to define male factor related recurrent miscarriage","volume":"87","author":"J Ribas-Maynou","year":"2020","journal-title":"Molecular reproduction and development"},{"issue":"2","key":"pone.0259518.ref031","doi-asserted-by":"crossref","DOI":"10.3390\/genes10020105","article-title":"Single and Double Strand Sperm DNA Damage: Different Reproductive Effects on Male Fertility.","volume":"10","author":"J Ribas-Maynou","year":"2019","journal-title":"Genes"},{"issue":"11","key":"pone.0259518.ref032","doi-asserted-by":"crossref","first-page":"e0165125","DOI":"10.1371\/journal.pone.0165125","article-title":"Measuring Sperm DNA Fragmentation and Clinical Outcomes of Medically Assisted Reproduction: A Systematic Review and Meta-Analysis","volume":"11","author":"M Cissen","year":"2016","journal-title":"PloS one"},{"issue":"10","key":"pone.0259518.ref033","doi-asserted-by":"crossref","first-page":"2908","DOI":"10.1093\/humrep\/des261","article-title":"The effect of sperm DNA fragmentation on miscarriage rates: a systematic review and meta-analysis","volume":"27","author":"L Robinson","year":"2012","journal-title":"Human reproduction"},{"issue":"11","key":"pone.0259518.ref034","doi-asserted-by":"crossref","DOI":"10.3390\/molecules25112496","article-title":"Resolving DNA Damage: Epigenetic Regulation of DNA Repair","volume":"25","author":"P Karakaidos","year":"2020","journal-title":"Molecules"},{"issue":"2","key":"pone.0259518.ref035","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21020446","article-title":"Cell Cycle and DNA Repair Regulation in the Damage Response: Protein Phosphatases Take Over the Reins","volume":"21","author":"A Campos","year":"2020","journal-title":"International journal of molecular sciences"},{"issue":"4","key":"pone.0259518.ref036","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.cell.2014.09.055","article-title":"Embryonic development following somatic cell nuclear transfer impeded by persisting histone methylation","volume":"159","author":"S Matoba","year":"2014","journal-title":"Cell"},{"issue":"25","key":"pone.0259518.ref037","doi-asserted-by":"crossref","first-page":"9169","DOI":"10.1073\/pnas.1403565111","article-title":"DNA double-strand breaks promote methylation of histone H3 on lysine 9 and transient formation of repressive chromatin","volume":"111","author":"MK Ayrapetov","year":"2014","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"1","key":"pone.0259518.ref038","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.tig.2015.11.001","article-title":"H3K9me3-Dependent Heterochromatin: Barrier to Cell Fate Changes.","volume":"32","author":"JS Becker","year":"2016","journal-title":"Trends in genetics: TIG"}],"updated-by":[{"DOI":"10.1371\/journal.pone.0263099","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T00:00:00Z","timestamp":1642723200000}}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0259518","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T18:01:14Z","timestamp":1635876074000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0259518"}},"subtitle":[],"editor":[{"given":"Shao-Chen","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,11,2]]},"references-count":38,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2021,11,2]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0259518","relation":{"correction":[{"id-type":"doi","id":"10.1371\/journal.pone.0263099","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,2]]}}}