{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:34:14Z","timestamp":1787726054008,"version":"build-2784847793"},"reference-count":28,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2022,11,26]],"date-time":"2022-11-26T00:00:00Z","timestamp":1669420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,12]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear. The aim of this study was to perform a retrospective analysis of copy number variations (CNVs) using a high\u2010resolution array comparative genomic hybridization (array\u2010CGH) in a cohort of fetuses and newborns with CDH.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Forty seven fetuses and newborns with either isolated or syndromic CDH were analyzed by oligonucleotide\u2010based array\u2010CGH Agilent 180K technique.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A mean of 10.2 CNVs was detected by proband with a total number of 480 CNVs identified based on five categories: benign, likely benign, of uncertain signification, likely pathogenic, and pathogenic. Diagnostic performance was estimated at 19.15% (i.e., likely pathogenic and pathogenic CNVs) for both CDH types. We identified 11 potential candidate genes:\n COL25A1<\/jats:italic>\n ,\n DSEL<\/jats:italic>\n ,\n EYA1<\/jats:italic>\n ,\n FLNA<\/jats:italic>\n ,\n MECOM<\/jats:italic>\n ,\n NRXN1<\/jats:italic>\n ,\n RARB<\/jats:italic>\n ,\n SPATA13<\/jats:italic>\n ,\n TJP2<\/jats:italic>\n ,\n XIRP2<\/jats:italic>\n , and\n ZFPM2.<\/jats:italic>\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n We suggest that\n COL25A1<\/jats:italic>\n ,\n DSEL<\/jats:italic>\n ,\n EYA1<\/jats:italic>\n ,\n FLNA<\/jats:italic>\n ,\n MECOM<\/jats:italic>\n ,\n NRXN1<\/jats:italic>\n ,\n RARB<\/jats:italic>\n ,\n SPATA13<\/jats:italic>\n ,\n TJP2<\/jats:italic>\n ,\n XIRP2<\/jats:italic>\n , and\n ZFPM2<\/jats:italic>\n genes may be related to CDH occurrence. Thus, this study provides a possibility for new methods of a positive diagnosis.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/pd.6268","type":"journal-article","created":{"date-parts":[[2022,11,20]],"date-time":"2022-11-20T02:29:36Z","timestamp":1668911376000},"page":"1627-1635","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia"],"prefix":"10.1002","volume":"42","author":[{"given":"Marie","family":"Boisson","sequence":"first","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Gael","family":"Cordier","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie Obst\u00e9trique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"},{"name":"Centre de R\u00e9f\u00e9rence Maladie Rare Hernie de Coupole Diaphragmatique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4595-7271","authenticated-orcid":false,"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de F\u0153topathologie AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Receveur","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Mouka","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris\u2010Saclay Le Kremlin\u2010Bic\u00eatre France"},{"name":"Laboratoire de D\u00e9veloppement des Gonades UMRE008 Stabilit\u00e9 G\u00e9n\u00e9tique Cellules Souches et Radiations Commissariat \u00e0 l'Energie Atomique et aux \u00c9nergies Alternatives Fontenay\u2010aux\u2010Roses France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Diot","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Egoroff","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de F\u0153topathologie AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffroy","family":"Esnault","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc","family":"Dr\u00e9villon","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Caen Normandie Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6045-0765","authenticated-orcid":false,"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie Obst\u00e9trique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"},{"name":"Centre de R\u00e9f\u00e9rence Maladie Rare Hernie de Coupole Diaphragmatique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris\u2010Saclay Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rard","family":"Tachdjian","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9nomique AP\u2010HP. 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Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris\u2010Saclay Le Kremlin\u2010Bic\u00eatre France"},{"name":"Laboratoire de D\u00e9veloppement des Gonades UMRE008 Stabilit\u00e9 G\u00e9n\u00e9tique Cellules Souches et Radiations Commissariat \u00e0 l'Energie Atomique et aux \u00c9nergies Alternatives Fontenay\u2010aux\u2010Roses France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2018.04.010"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2000.8725"},{"issue":"3","key":"e_1_2_9_4_1","first-page":"331","article-title":"Associated malformations in cases with congenital diaphragmatic hernia","volume":"19","author":"Stoll C","year":"2008","journal-title":"Genet Counsel"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30126"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30131"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6099"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37177"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1714885115"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1223"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5327"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41372\u2010020\u20100623\u20103"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2019.07.008"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13381"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40499"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.04.006"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12395"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.08.059"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.014"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.131060"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835b8df2"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M603244200"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0925\u20104773(97)00057\u20109"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201053896\u20107"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.01.010"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2007.05.006"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33341"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102020\u2010107317"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6268","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6268","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T12:48:57Z","timestamp":1692535737000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,26]]},"references-count":28,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/pd.6268"],"URL":"https:\/\/doi.org\/10.1002\/pd.6268","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,26]]},"assertion":[{"value":"2022-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}