{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T20:42:43Z","timestamp":1789072963092,"version":"build-2803163510"},"reference-count":37,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,2]],"date-time":"2025-02-02T00:00:00Z","timestamp":1738454400000},"content-version":"am","delay-in-days":367,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100009633","name":"NICHD","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Perinatology"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1016\/j.semperi.2023.151866","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T07:21:17Z","timestamp":1702970477000},"page":"151866","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genomics of stillbirth"],"prefix":"10.1016","volume":"48","author":[{"given":"Jessica L.","family":"Giordano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wapner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.semperi.2023.151866_bib0001","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.1097\/AOG.0000000000003719","article-title":"Management of stillbirth: obstetric care consensus No, 10","volume":"135","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"22","key":"10.1016\/j.semperi.2023.151866_bib0002","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1001\/jama.2011.1823","article-title":"Causes of death among stillbirths","volume":"306","year":"2011","journal-title":"JAMA"},{"issue":"22","key":"10.1016\/j.semperi.2023.151866_bib0003","doi-asserted-by":"crossref","first-page":"2469","DOI":"10.1001\/jama.2011.1798","article-title":"Association between stillbirth and risk factors known at pregnancy confirmation","volume":"306","year":"2011","journal-title":"JAMA"},{"issue":"3-4","key":"10.1016\/j.semperi.2023.151866_bib0004","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1159\/000244052","article-title":"A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model","volume":"65","author":"Filiano","year":"1994","journal-title":"Biol Neonate"},{"key":"10.1016\/j.semperi.2023.151866_bib0005","series-title":"Working to Address the Tragedy of Stillbirth","year":"2023"},{"issue":"4","key":"10.1016\/j.semperi.2023.151866_bib0006","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1097\/AOG.0b013e31816a4ee3","article-title":"Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup","volume":"111","author":"Korteweg","year":"2008","journal-title":"Obstet Gynecol"},{"issue":"2","key":"10.1016\/j.semperi.2023.151866_bib0007","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/ajmg.1320500204","article-title":"Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths","volume":"50","author":"Pauli","year":"1994","journal-title":"Am J Med Genet"},{"issue":"5","key":"10.1016\/j.semperi.2023.151866_bib0008","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1093\/humrep\/17.5.1166","article-title":"Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions","volume":"17","author":"Jobanputra","year":"2002","journal-title":"Hum Reprod"},{"issue":"8","key":"10.1016\/j.semperi.2023.151866_bib0009","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1002\/pd.2759","article-title":"Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens","volume":"31","author":"Jobanputra","year":"2011","journal-title":"Prenat Diagn"},{"issue":"1","key":"10.1016\/j.semperi.2023.151866_bib0010","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1053\/sper.2002.29853","article-title":"Genetics and metabolic causes of stillbirth","volume":"26","author":"Wapner","year":"2002","journal-title":"Semin Perinatol"},{"issue":"5","key":"10.1016\/j.semperi.2023.151866_bib0011","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"23","key":"10.1016\/j.semperi.2023.151866_bib0012","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"},{"issue":"23","key":"10.1016\/j.semperi.2023.151866_bib0013","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1056\/NEJMoa1201569","article-title":"Karyotype versus microarray testing for genetic abnormalities after stillbirth","volume":"367","author":"Reddy","year":"2012","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.semperi.2023.151866_bib0014","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1097\/MOP.0b013e32834b20ec","article-title":"Whole exome and whole genome sequencing","volume":"23","author":"Bick","year":"2011","journal-title":"Curr Opin Pediatr"},{"issue":"10173","key":"10.1016\/j.semperi.2023.151866_bib0015","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet"},{"issue":"10173","key":"10.1016\/j.semperi.2023.151866_bib0016","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.semperi.2023.151866_bib0017","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.117.001817","article-title":"Postmortem genetic testing for cardiac ion channelopathies in stillbirths","volume":"11","author":"Munroe","year":"2018","journal-title":"Circ Genom Precis Med"},{"issue":"14","key":"10.1016\/j.semperi.2023.151866_bib0018","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1001\/jama.2013.3219","article-title":"Long QT syndrome-associated mutations in intrauterine fetal death","volume":"309","author":"Crotti","year":"2013","journal-title":"JAMA"},{"issue":"1","key":"10.1016\/j.semperi.2023.151866_bib0019","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0210017","article-title":"Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth","volume":"14","author":"Sahlin","year":"2019","journal-title":"PLoS One"},{"issue":"12","key":"10.1016\/j.semperi.2023.151866_bib0020","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1056\/NEJMoa1908753","article-title":"Causal genetic variants in stillbirth","volume":"383","author":"Stanley","year":"2020","journal-title":"N Engl J Med"},{"key":"10.1016\/j.semperi.2023.151866_bib0021","article-title":"Value of exome reanalysis and broad inclusion criteria in stillbirth","author":"Duyzend","year":"2024","journal-title":"SMFM"},{"issue":"4","key":"10.1016\/j.semperi.2023.151866_bib0022","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/ejhg.2016.202","article-title":"Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome","volume":"25","author":"Mason-Suares","year":"2017","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.semperi.2023.151866_bib0023","doi-asserted-by":"crossref","first-page":"3453","DOI":"10.1038\/s41467-023-38951-2","article-title":"Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality","volume":"14","author":"Oddsson","year":"2023","journal-title":"Nat Commun"},{"issue":"18","key":"10.1016\/j.semperi.2023.151866_bib0024","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare Mendelian disorders","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA"},{"issue":"9","key":"10.1016\/j.semperi.2023.151866_bib0025","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1016\/j.ajhg.2023.07.010","article-title":"Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies","volume":"110","author":"Lowther","year":"2023","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.semperi.2023.151866_bib0026","series-title":"Clinical Diagnostic Sequencing of Structural Variation","year":"2023"},{"issue":"10","key":"10.1016\/j.semperi.2023.151866_bib0027","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","article-title":"ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Gregg","year":"2021","journal-title":"Genet Med"},{"issue":"9","key":"10.1016\/j.semperi.2023.151866_bib0028","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1007\/s00439-020-02146-2","article-title":"Genetic innovations and our understanding of stillbirth","volume":"139","author":"Wilkins-Haug","year":"2020","journal-title":"Hum Genet"},{"issue":"1","key":"10.1016\/j.semperi.2023.151866_bib0029","article-title":"Maternal effect genes: update and review of evidence for a link with birth defects","volume":"3","author":"Mitchell","year":"2021","journal-title":"HGG Adv."},{"issue":"2","key":"10.1016\/j.semperi.2023.151866_bib0030","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/s41436-019-0630-y","article-title":"Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA","volume":"22","author":"Grati","year":"2020","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.semperi.2023.151866_bib0031","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1093\/humupd\/dmab009","article-title":"Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature","volume":"27","author":"Eggenhuizen","year":"2021","journal-title":"Hum Reprod Update"},{"issue":"7852","key":"10.1016\/j.semperi.2023.151866_bib0032","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/s41586-021-03345-1","article-title":"Inherent mosaicism and extensive mutation of human placentas","volume":"592","author":"Coorens","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.semperi.2023.151866_bib0033","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.placenta.2022.09.004","article-title":"A study on the placenta in stillbirth: an evaluation of molecular alterations through next generation sequencing","volume":"129","author":"Nardi","year":"2022","journal-title":"Placenta"},{"issue":"13","key":"10.1016\/j.semperi.2023.151866_bib0034","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1080\/15592294.2022.2111755","article-title":"Placental DNA methylation in pregnancies complicated by maternal diabetes and\/or obesity: State of the art and research gaps","volume":"17","author":"Hjort","year":"2022","journal-title":"Epigenetics"},{"issue":"11","key":"10.1016\/j.semperi.2023.151866_bib0035","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.3390\/ijms20112837","article-title":"The role of epigenetics in placental development and the etiology of preeclampsia","volume":"20","author":"Apicella","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"4","key":"10.1016\/j.semperi.2023.151866_bib0036","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1097\/AOG.0000000000001937","article-title":"Diagnostic tests for evaluation of stillbirth: results from the stillbirth collaborative research network","volume":"129","author":"Page","year":"2017","journal-title":"Obstet Gynecol"},{"issue":"5","key":"10.1016\/j.semperi.2023.151866_bib0037","first-page":"869","article-title":"Fetal autopsy rates in the united states: analysis of national vital statistics","volume":"140","author":"Oliver","year":"2022","journal-title":"Obstet Gynecol"}],"container-title":["Seminars in Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000523001696?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0146000523001696?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T15:20:19Z","timestamp":1729783219000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0146000523001696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["S0146000523001696"],"URL":"https:\/\/doi.org\/10.1016\/j.semperi.2023.151866","relation":{},"ISSN":["0146-0005"],"issn-type":[{"value":"0146-0005","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genomics of stillbirth","name":"articletitle","label":"Article Title"},{"value":"Seminars in Perinatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.semperi.2023.151866","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"151866"}}