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Fetal malformations of cortical development: review and clinical guidance

Title: Fetal malformations of cortical development: review and clinical guidance
Authors: Russ, Jeffrey B; Agarwal, Sonika; Venkatesan, Charu; Scelsa, Barbara; Vollmer, Brigitte; Tarui, Tomo; Pardo, Andrea C; Lemmon, Monica E; Mulkey, Sarah B; Hart, Anthony R; Nagaraj, Usha D; Kuller, Jeffrey A; Whitehead, Matthew T; Cohen, Jennifer L; Gebb, Juliana S; Glenn, Orit A; Norton, Mary E; Gano, Dawn
Contributors: National Institutes of Health
Source: Brain ; volume 148, issue 6, page 1888-1903 ; ISSN 0006-8950 1460-2156
Publisher Information: Oxford University Press (OUP)
Publication Year: 2025
Description: Malformations of cortical development (MCDs) are a heterogeneous family of congenital brain malformations that originate from disturbed development of the cerebral cortex. MCDs can arise from primary genetic disorders that lead to dysfunction of the molecular processes controlling neuronal proliferation, neuronal migration, cortical folding or cortical organization. MCDs can also result from secondary, disruptive causes, such as congenital infection or other in utero brain injuries. Sequelae of MCDs can include epilepsy, intellectual disability and cerebral palsy, among other symptoms, with a high burden of paediatric morbidity. Advances in antenatal genetic testing and imaging have improved the ability to diagnose MCDs, yet limited literature exists to aid clinicians in prognostication of outcomes and perinatal management. These clinical realities can make it challenging for clinicians caring for fetal neurological conditions to counsel families and make recommendations for interdisciplinary care. We aim to review the literature on fetal MCDs and present practice guidelines for clinicians regarding the pre- and postnatal management of MCDs.
Document Type: article in journal/newspaper
Language: English
DOI: 10.1093/brain/awaf094
DOI: 10.1093/brain/awaf094/62308597/awaf094.pdf
Availability: https://doi.org/10.1093/brain/awaf094; https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf094/62308597/awaf094.pdf; https://academic.oup.com/brain/article-pdf/148/6/1888/62308597/awaf094.pdf
Rights: https://creativecommons.org/licenses/by-nc/4.0/
Accession Number: edsbas.2E1A1F2F
Database: BASE