{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T15:27:43Z","timestamp":1781882863561,"version":"3.54.5"},"reference-count":4,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T00:00:00Z","timestamp":1684454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trio exome sequencing was performed on a fetus presenting with severe hydrops fetalis at 21\u00a0+\u00a00\u00a0weeks gestation. A novel de novo <jats:italic>BICD2<\/jats:italic> missense variant was identified in the fetus. Pathogenic variants in the <jats:italic>BICD2<\/jats:italic> gene are associated with lower extremity\u2010predominant spinal muscular atrophy. The variant was initially classified as a variant of uncertain clinical significance (VUS) as at the time of analysis and initial report, pathogenic variants in the <jats:italic>BICD2<\/jats:italic> gene specifically had not been associated with fetal hydrops and no other abnormalities had been detected. It was agreed in multidisciplinary team discussions to include the variant in the report as a VUS recommending phenotypic follow\u2010up. The pregnancy was terminated and post\u2010mortem findings were in keeping with a <jats:italic>BICD2<\/jats:italic>\u2010pathogenic variant. In addition, a paper was published reporting another case with a pathogenic <jats:italic>BICD2<\/jats:italic> variant presenting with fetal hydrops. The variant classification was then upgraded to class 4 likely pathogenic and reported as consistent with the diagnosis. This case demonstrates the importance of reporting these new gene\/phenotypes in enabling others in the classification of variants, staying up\u2010to\u2010date with literature and following up phenotype for class 3 variants of interest.<\/jats:p>","DOI":"10.1002\/pd.6386","type":"journal-article","created":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T04:00:13Z","timestamp":1683950413000},"page":"727-729","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Likely pathogenic variant in the <i>BICD2<\/i> gene in fetus presenting with non\u2010immune hydrops"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1396-0740","authenticated-orcid":false,"given":"Natalie","family":"Chandler","sequence":"first","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poppy","family":"Brace","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rowenna","family":"Roberts","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9905-0654","authenticated-orcid":false,"given":"Rhiannon","family":"Mellis","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"},{"name":"Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,19]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Genomics England. PanelApp.https:\/\/panelapp.genomicsengland.co.uk\/"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6165"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.98"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001121\u20100"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T07:06:16Z","timestamp":1704870376000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,19]]},"references-count":4,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/pd.6386"],"URL":"https:\/\/doi.org\/10.1002\/pd.6386","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,19]]},"assertion":[{"value":"2023-03-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}