{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:46:23Z","timestamp":1761734783897,"version":"build-2065373602"},"reference-count":19,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.ejmg.2022.104652","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T19:03:40Z","timestamp":1666983820000},"page":"104652","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3434-1351","authenticated-orcid":false,"given":"Pedro","family":"M Almeida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaquim","family":"S\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Branco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eul\u00e1lia","family":"Galhano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ejmg.2022.104652_bib1","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classi\ufb01cation for malformations of cortical development: update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.ejmg.2022.104652_bib2","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/pd.2170","article-title":"Sonoembryology and early prenatal diagnosis of neural anomalies","volume":"29","author":"Blaas","year":"2009","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2022.104652_bib3","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/s41586-019-1879-7","article-title":"A brief history of human disease genetics","volume":"577","author":"Claussnitzer","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2022.104652_bib4","first-page":"435","volume":"28","author":"Cr\u00e9quat","year":"2000","journal-title":"Gynecol. Obstet. Fertil."},{"issue":"12","key":"10.1016\/j.ejmg.2022.104652_bib5","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1136\/jmg.2009.076398","article-title":"A clinical and molecular genetic study of 112 Iranian families with primary microcephaly","volume":"47","author":"Darvish","year":"2010","journal-title":"J. Med. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2022.104652_bib6","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1038\/s41436-019-0499-9","article-title":"From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care","volume":"21","author":"de Koning","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104652_bib7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.10580","article-title":"Primary microcephaly: new approaches for an old disorder","volume":"112","author":"Dobyns","year":"2002","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2022.104652_bib8","article-title":"A longitudinal study of fetal head biometry","volume":"1","author":"Jeanty","year":"1984","journal-title":"Am. J. Perinatol."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104652_bib9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ogc.2017.10.003","article-title":"Whole exome sequencing: applications in prenatal genetics","volume":"45","author":"Jelin","year":"2018","journal-title":"Obstet. Gynecol. Clin. N. Am."},{"key":"10.1016\/j.ejmg.2022.104652_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejpn.2018.06.002","article-title":"Diagnostic approach to fetal microcephaly","author":"Leibovitz","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ejmg.2022.104652_bib11","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/uog.15886","article-title":"Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero","volume":"47","author":"Leibovitz","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"4","key":"10.1016\/j.ejmg.2022.104652_bib12","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/pd.2146","article-title":"Normal sonographic development of the central nervous system from the second trimester onwards using 2D, 3D and transvaginal sonography","volume":"29","author":"Monteagudo","year":"2009","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2022.104652_bib13","first-page":"175","article-title":"Microcephaly: general considerations and aids to nosology","volume":"10","author":"Opitz","year":"1992","journal-title":"J. Craniofac. Genet. Dev. Biol."},{"key":"10.1016\/j.ejmg.2022.104652_bib14","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1399-0004.1973.tb01121.x","article-title":"A problem in diagnosis of primary versus secondary microcephaly","volume":"4","author":"Qazi","year":"1973","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2022.104652_bib15","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104652_bib16","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng948","article-title":"Mutant deoxynucleotide carrier is associated with congenital microcephaly","volume":"32","author":"Rosenberg","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2022.104652_bib17","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/pd.5520","article-title":"Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: a practical review","volume":"39","author":"Van den Veyver","year":"2019","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2022.104652_bib18","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/uog.5225","volume":"31","author":"Verburg","year":"2008","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104652_bib19","doi-asserted-by":"crossref","first-page":"112e7","DOI":"10.1016\/j.conb.2004.01.003","article-title":"Human microcephaly","volume":"14","author":"Woods","year":"2004","journal-title":"Curr. Opin. Neurobiol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002336?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002336?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:29Z","timestamp":1761710069000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222002336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["S1769721222002336"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104652","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104652","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104652"}}