{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:08Z","timestamp":1756425788852,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,1,17]]},"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>The 18q deletion is a rare condition with several described features. A common phenotype includes short stature, microcephaly, facial defects, small feet, intellectual disability and hypotonia.<\/jats:p>\n               <jats:p>We present a rare case of a fetus with del18q22.1q23 whose diagnosis was obtained by amniocentesis after a routine ultrasound at 20 weeks, where a hemivertebra was detected.<\/jats:p>\n               <jats:p>Congenital hemivertebra is infrequent and is rarely associated with chromosomal anomalies. Expectant management can be advocated in isolated hemivertebra. This report shows that a hemivertebra can be an isolated prenatal finding in del18 so it is important to screen for, and exclude, chromosomal anomalies.<\/jats:p>","DOI":"10.1136\/bcr-2022-251914","type":"journal-article","created":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T09:05:53Z","timestamp":1676019953000},"page":"e251914","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Fetal hemivertebra: a rare form of 18q deletion prenatal presentation"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3604-1918","authenticated-orcid":false,"given":"Mafalda","family":"Laranjo","sequence":"first","affiliation":[{"name":"Gynecology and Obstetrics, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9987-6667","authenticated-orcid":false,"given":"M\u00e1rcia","family":"Marinho","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concei\u00e7\u00e3o","family":"Brito","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Godinho","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,2,10]]},"reference":[{"key":"2025082801101143000_16.2.e251914.1","first-page":"579","article-title":"Partial deletion of the long arms of the chromosome 18","volume":"12","author":"De Grouchy","year":"1964","journal-title":"Pathol Biol"},{"key":"2025082801101143000_16.2.e251914.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.246"},{"key":"2025082801101143000_16.2.e251914.3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/BF00455265","article-title":"18Q- syndrome in mother and daughter","volume":"130","author":"Fryns","year":"1979","journal-title":"Eur J Pediatr"},{"key":"2025082801101143000_16.2.e251914.4","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1002\/ajmg.a.31850","article-title":"Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic MAP","volume":"143A","author":"Feenstra","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025082801101143000_16.2.e251914.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z"},{"key":"2025082801101143000_16.2.e251914.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.5.414"},{"key":"2025082801101143000_16.2.e251914.7","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1159\/000082435","article-title":"Hemivertebra: prenatal diagnosis, incidence and characteristics","volume":"20","author":"Goldstein","year":"2005","journal-title":"Fetal Diagn Ther"},{"key":"2025082801101143000_16.2.e251914.8","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/uog.13401","article-title":"Fetal hemivertebra: associations and perinatal outcome","volume":"45","author":"Basude","year":"2015","journal-title":"Ultrasound Obstet Gynecol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-251914","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:10:23Z","timestamp":1756368623000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-251914"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2,10]]},"published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1136\/bcr-2022-251914"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-251914","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}