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This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.<\/jats:p>","DOI":"10.1136\/bcr-2021-244682","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T15:41:21Z","timestamp":1653320481000},"page":"e244682","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis of craniorachischisis totalis"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7866-0445","authenticated-orcid":false,"given":"Paulina","family":"Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9410-0798","authenticated-orcid":false,"given":"Andreia","family":"Fontoura Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f3nio","family":"Baptista Vila\u00e7a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,4,25]]},"reference":[{"key":"2023030803051130000_15.4.e244682.1","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.18203\/2320-6012.ijrms20181044","article-title":"Craniorachischisis: first case reported in Madagascar","volume":"6","author":"Rabarikoto","year":"2018","journal-title":"Int J Res Med Sci"},{"key":"2023030803051130000_15.4.e244682.2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000188662","article-title":"Craniorachischisis totalis: a case report and review of the literature","volume":"25","author":"Coskun","year":"2009","journal-title":"Fetal Diagn Ther"},{"key":"2023030803051130000_15.4.e244682.3","unstructured":"Genetic and Rare Diseases Information Center . 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