{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T21:57:43Z","timestamp":1773352663747,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T00:00:00Z","timestamp":1694476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T00:00:00Z","timestamp":1694476800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography. This is the first report of a prenatal phenotype involving a fetal effusion associated with variants in the PORCN gene, with skeletal findings identified later in gestation on ultrasonography. The diagnosis was confirmed on neonatal examination.<\/jats:p>","DOI":"10.1002\/pd.6438","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T09:52:59Z","timestamp":1694512379000},"page":"1472-1476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis of PORCN\u2010related developmental syndrome in a fetus: A novel phenotype"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9987-4223","authenticated-orcid":false,"given":"Mark D.","family":"Kilby","sequence":"first","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's Foundation Trust  Birmingham UK"},{"name":"College of Medical and Dental Sciences University of Birmingham  Birmingham UK"},{"name":"Medical Research Group Illumina  Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6309-3978","authenticated-orcid":false,"given":"James","family":"Castleman","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Birmingham Women's and Children's Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Allen","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory Central and South Genomic Laboratory Hub  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Doyle","sequence":"additional","affiliation":[{"name":"Perinatal Genomics Service The National Maternity Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise K.","family":"Williams","sequence":"additional","affiliation":[{"name":"West Midlands Regional Clinical Genetics Service Birmingham Women's and Children's Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,12]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Genomics England PanelApp. Access on internet on 11 August 2023.https:\/\/panelapp.genomicsengland.co.uk\/"},{"key":"e_1_2_6_3_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Sutton VR","year":"2023"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61984"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201002068\u2010w"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31469"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37974"},{"key":"e_1_2_6_9_1","unstructured":"LOVD as unpublished data:https:\/\/databases.lovd.nl\/shared\/variants\/PORCN\/unique"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6438","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6438","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6438","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T11:13:48Z","timestamp":1773314028000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,12]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/pd.6438"],"URL":"https:\/\/doi.org\/10.1002\/pd.6438","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,12]]},"assertion":[{"value":"2023-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}