{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T18:08:24Z","timestamp":1775585304971,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"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":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole\u2010exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We evaluated the genetic and clinical data of 51 prenatally diagnosed fetuses with CDH. CMA was performed for every patient. If CMA did not yield diagnostic results, the samples were subjected to WES.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Compared with fetuses with isolated CDH (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a042), those with non\u2010isolated CDH (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a09) presented a higher genetic diagnostic rate (22.2% vs. 2.4%). The overall diagnostic yield was 5.9%, comprising 3.9% from chromosomal microarray analysis (CMA) and an additional 2.0% from whole exome sequencing (WES). CMA identified (1) mosaic trisomy 18 in a patient with isolated CDH; and (2) 4q terminal deletion syndrome in a patient with non\u2010isolated CDH. WES identified a novel missense mutation,\n                      <jats:italic>PLS3<\/jats:italic>\n                      c.1763A\u00a0&gt;\u00a0\n                      <jats:italic>G<\/jats:italic>\n                      , associated with X\u2010linked CDH in a patient with non\u2010isolated CDH and a family history of recurrent CDH.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Genetic testing should be offered for all fetuses with CDH, regardless of whether the cases are isolated or non\u2010isolated. WES should be considered if CMA fails to provide a diagnostic result, particularly in patients with non\u2010isolated CDH and a family history of recurrent CDH.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6727","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T22:44:31Z","timestamp":1734389071000},"page":"1651-1659","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5180-922X","authenticated-orcid":false,"given":"Yan","family":"L\u00fc","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiazhen","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueting","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiya","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Ultrasound Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenghong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lishuang","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Neonatal Surgery Children's Hospital of Capital Institute of Pediatrics Capital Institute of Pediatrics  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"You","sequence":"additional","affiliation":[{"name":"Department of Radiology Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan","family":"Jian","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neonatal Surgery Children's Hospital of Capital Institute of Pediatrics Capital Institute of Pediatrics  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengjie","family":"Li","sequence":"additional","affiliation":[{"name":"Biomedical Engineering Facility of National Infrastructures for Translational Medicine Institute of Clinical Medicine Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqing","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaili","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingming","family":"Wang","sequence":"additional","affiliation":[{"name":"GenoDecode (Beijing) Co. Ltd  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulin","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6072-982X","authenticated-orcid":false,"given":"Qingwei","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Clinical Research Center for Obstetric &amp; Gynecologic Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1106"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2016.09.061"},{"key":"e_1_2_11_4_1","volume-title":"GeneReviews\u00ae","author":"Longoni M.","year":"2006"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6407"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.09.002"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2018.12.010"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5195"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)32042\u20107"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.16869"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)31940\u20108"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6622"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4052"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.10.013"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.011"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2004.04.010"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2205370119"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6585"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6624"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000500735"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010023\u201000651\u20103"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010021\u201000573\u2010y"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/513442"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100041\u20101740337"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.e23"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.1993.8.6.471"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.012"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120114"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30904"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101774\u2010y"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007822"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2023.05.012"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6727","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:13:31Z","timestamp":1762996411000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6727"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,16]]},"references-count":35,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/pd.6727"],"URL":"https:\/\/doi.org\/10.1002\/pd.6727","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,16]]},"assertion":[{"value":"2024-07-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}