{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T23:07:07Z","timestamp":1788217627192,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T00:00:00Z","timestamp":1684281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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>We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic <jats:italic>MECOM<\/jats:italic> variant. The female fetus was referred for post\u2010mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post\u2010mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss\u2010of\u2010function variant in <jats:italic>MECOM<\/jats:italic> (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT\u20102). RUSAT\u20102 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT\u20102 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post\u2010mortem examination, and of using a broad sequencing approach.<\/jats:p>","DOI":"10.1002\/pd.6353","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T23:13:20Z","timestamp":1683760400000},"page":"717-720","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Fetal hydrops caused by a novel pathogenic <i>MECOM<\/i> variant"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1333-1194","authenticated-orcid":false,"given":"Elizabeth","family":"Wall","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Forsyth","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Kinning","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tam\u00e1s","family":"Marton","sequence":"additional","affiliation":[{"name":"Histopathology Department Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,17]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020","author":"Ellard S","year":"2020"},{"key":"e_1_2_10_3_1","unstructured":"Clinical Genome Resource. Cited January 2023.https:\/\/search.clinicalgenome.org\/kb\/genes\/HGNC:3498"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.183855"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.10.010"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.178723"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018016501"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.01.021"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102017\u201009\u2010806489"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T07:06:21Z","timestamp":1704870381000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,17]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/pd.6353"],"URL":"https:\/\/doi.org\/10.1002\/pd.6353","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,17]]},"assertion":[{"value":"2023-01-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}