Journal
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Volume 106, Issue 1, Pages 36-46Publisher
WILEY
DOI: 10.1002/bdra.23472
Keywords
fetus; corpus callosum malformation; neuropathology; comparative genomics hybridization (CGH)
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Funding
- ANR CILAXAL [ANR-13-BSV1-0027]
- Agence de la Biomedecine AOR
- Fondation pour la Recherche Medicale (FRM)
- Agence Nationale de la Recherche (ANR) [ANR-13-BSV1-0027] Funding Source: Agence Nationale de la Recherche (ANR)
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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. (C) 2015 Wiley Periodicals, Inc.
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