{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:40:15Z","timestamp":1756291215695,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,29]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>Costello syndrome is a very rare genetic condition with a poor prognosis, caused by a mutation in the <jats:italic>HRAS<\/jats:italic> gene. We report two lethal cases diagnosed antenatally using recently introduced exome sequencing technology (R21). Without this testing, they are unlikely to have been diagnosed so promptly, which the families found very helpful in coping with their loss.<\/jats:p>","DOI":"10.1136\/bcr-2024-261698","type":"journal-article","created":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T03:03:23Z","timestamp":1735009403000},"page":"e261698","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Antenatal diagnosis of lethal Costello syndrome: how fetal exome sequencing using NHS England\u2019s R21 pathway accelerated the diagnosis of non-immune hydrops and improved patient experience"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7873-2103","authenticated-orcid":false,"given":"Jane L D","family":"Currie","sequence":"first","affiliation":[{"name":"Fetal Medicine Unit, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK"},{"name":"UCL EGA Institute for Women's Health, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Caldas","sequence":"additional","affiliation":[{"name":"University Hospitals Bristol and Weston NHS Foundation Trust, Teams, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imogen","family":"Montague","sequence":"additional","affiliation":[{"name":"University Hospitals Plymouth NHS Trust, Plymouth, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria L","family":"Bills","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,22]]},"reference":[{"key":"2025082703081654000_17.12.e261698.1","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1002\/ajmg.a.35296","article-title":"Neonatal lethal Costello syndrome and unusual dinucleotide deletion\/insertion mutations in HRAS predicting p.Gly12Val","volume":"158A","author":"Burkitt-Wright","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2025082703081654000_17.12.e261698.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822dd91f"},{"key":"2025082703081654000_17.12.e261698.3","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2276"},{"key":"2025082703081654000_17.12.e261698.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2023643"},{"key":"2025082703081654000_17.12.e261698.5","unstructured":"NHS England . R21: rapid prenatal exome sequencing. 2023. Available: https:\/\/www.genomicseducation.hee.nhs.uk\/genotes\/knowledge-hub\/r21-rapid-prenatal-exome-sequencing\/"},{"key":"2025082703081654000_17.12.e261698.6","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/uog.23652","article-title":"Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis","volume":"58","author":"Mone","year":"2021","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025082703081654000_17.12.e261698.7","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1111\/1471-0528.16869","article-title":"Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?","volume":"129","author":"Mellis","year":"2022","journal-title":"BJOG"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:08:22Z","timestamp":1756289302000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":7,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,12,22]]},"published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1136\/bcr-2024-261698"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261698","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,12]]}}}