{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:16:46Z","timestamp":1790457406461,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,14]],"date-time":"2015-12-14T00:00:00Z","timestamp":1450051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"ANR 2013 CILAXAL","award":["ANR-13-BSV1-0027"],"award-info":[{"award-number":["ANR-13-BSV1-0027"]}]},{"name":"Agence de la Biomedecine","award":["AOR 2010"],"award-info":[{"award-number":["AOR 2010"]}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale (FRM)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Corpus callosum malformation (CCM) is the most frequent brain malformation observed at birth. Because CCM is a highly heterogeneous condition, the prognosis of fetuses diagnosed prenatally remains uncertain, making prenatal counseling difficult.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS AND RESULTS<\/jats:title><jats:p>We evaluated retrospectively a total of 138 fetuses, 117 with CCM observed on prenatal imaging examination, and 21 after postmortem autopsy. On ultrasound and\/or magnetic resonance imaging, CCM was either isolated (<jats:italic>N<\/jats:italic>\u2009=\u200940) or associated with other neurological (<jats:italic>N<\/jats:italic>\u2009=\u200957) or extra cerebral findings (<jats:italic>N<\/jats:italic>\u2009=\u200921\/20, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Most fetuses (<jats:italic>N<\/jats:italic>\u2009=\u2009132) remained without a diagnosis at the time of pregnancy termination. This emphasizes the need to establish a neuropathological classification and to perform a genomic screening using comparative genomic hybridization. A neuropathological examination performed on 138 cases revealed a spectrum of CCMs, classified as follows: agenesis of corpus callosum (55), CC hypoplasia (30), CC dysmorphism (24), and CCM associated with a malformation of cortical development (29). Of interest, after fetopathological examination, only 16\/40 malformations were classified as isolated, highlighting the importance of the autopsy following termination of pregnancy. Among the 138 cases, the underlying etiology was found in 46 cases: diabetes (one case), cytomegalovirus infection (one case), 23 chromosome abnormalities, and 21 mendelian conditions.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>In our series of 138 cases of CCM, prenatal and postmortem examinations identified a variety of genetic causes. However, no diagnosis could be established in 67% of cases. The classification based on the underlying neurodevelopmental defects paves the way for further genetic studies and genotype\u2010phenotype correlations. Birth Defects Research (Part A) 106:36\u201346, 2016.  \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23472","type":"journal-article","created":{"date-parts":[[2015,12,14]],"date-time":"2015-12-14T07:26:48Z","timestamp":1450078008000},"page":"36-46","source":"Crossref","is-referenced-by-count":49,"title":["Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation"],"prefix":"10.1002","volume":"106","author":[{"given":"Caroline","family":"Alby","sequence":"first","affiliation":[{"name":"INSERM U1163, Institut Imagine, H\u00f4pital Necker\u2010Enfants Malades"},{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Necker\u2010Enfants Malades, APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[{"name":"INSERM U1163, Institut Imagine, H\u00f4pital Necker\u2010Enfants 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