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• W2977881413 abstract "Recent advances in fetal neuroimaging have improved the understanding of the processes underlying fetal brain development. Concepts like anteroposterior and dorsoventral patterning, axonal guidance, and neuronal determination enlighten the relation between midbrain-hindbrain (MB-HB) anomalies and malformations of cortical development (MCD). The aim of this study was to describe the prenatal neuroimaging features of MCD in fetuses with MB-HB anomalies. This retrospective multicentre study analysed the features of MCD of 99 fetuses with confirmed MB-HB anomalies. Dedicated neurosonography and/or fetal brain MRI were systematically assessed for the presence of direct and indirect signs of MCD: over/undersulcation, abnormal gyral pattern, abnormal operculisation, irregular cortical pattern, reduced pericerebral space and hyperechogenic irregular cerebral lining, irregular interhemispheric fissure, abnormally-shaped frontal horns, irregular ventricular walls. Additional CNS and non-CNS findings, genetic testing and pregnancy outcome were reported. Fifty-three fetuses (53.4%) with brainstem anomalies presented features of MCD. Gestational age varied from 15-38 weeks (median 27 weeks) and in 28% of the cases the diagnosis was made before 24 weeks. Final diagnoses were: cobblestone malformation complex (n = 16), rhombencephalosynapsis (n = 8), lissencephaly with brainstem and cerebellar hypoplasia (n = 7), tubulinopathies (n = 5), molar tooth dysplasias (4), malformation syndromes (4), infectious fetopathy (n = 3), Moebius sequence (n = 3), diencephalic-mesencephalic junction dysplasia (2), hemimegalencephaly (n = 1). The present study is the first large series to demonstrate the common association between supratentorial malformations and MH-HB anomalies in fetuses, denoting an impairment of concurrent developmental brain processes. In one-third of the cases, the abnormal brain features can already be diagnosed by dedicated neurosonography in early second trimester." @default.
• W2977881413 created "2019-10-10" @default.
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• W2977881413 date "2019-09-30" @default.
• W2977881413 modified "2023-10-03" @default.
• W2977881413 title "OC03.07: Prenatal diagnosis of malformations of cortical development associated to midbrain‐hindbrain anomalies" @default.
• W2977881413 doi "https://doi.org/10.1002/uog.20441" @default.
• W2977881413 hasPublicationYear "2019" @default.
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