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Alby, Caroline; Malan, Valérie; Boutaud, Lucile; Marangoni, Maria Angela; Bessières, Bettina; Bonniere, Maryse; Ichkou, Amale; Elkhartoufi, Nadia; Bahi-Buisson, Nadia; Sonigo, Pascale; Millischer, Anne-Elodie; Thomas, Sophie; Ville, Yves; Vekemans, Michel; Encha-Razavi, Férechté; Attié-Bitach, Tania
Birth defects research, January 2016, Volume: 106, Issue: 1Journal Article
BACKGROUND 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. METHODS AND RESULTS 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 (N = 40) or associated with other neurological (N = 57) or extra cerebral findings (N = 21/20, respectively). RESULTS Most fetuses (N = 132) 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. CONCLUSION 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‐phenotype correlations. Birth Defects Research (Part A) 106:36–46, 2016. © 2015 Wiley Periodicals, Inc.
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