Fetal malformations of cortical development: review and clinical guidance

Jeffrey B. Russ, Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, 27710, USA.
Sonika Agarwal, Division of Neurology & Pediatrics, Children's Hospital of Philadelphia; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Charu Venkatesan, Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA.
Barbara Scelsa, Department of Pediatric Neurology, Buzzi Children's Hospital, University of Milan, Milan, 20154, Italy.
Brigitte Vollmer, Clinical Neurosciences, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.
Tomo Tarui, Division of Pediatric Neurology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, RI, 02903, USA.
Andrea C. Pardo, Department of Pediatrics, Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Monica E. Lemmon, Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, 27710, USA.
Sarah B. Mulkey, Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington DC, District of Columbia, 20010, USA.
Anthony R. Hart, Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, SE5 9RS, UK.
Usha D. Nagaraj, Division of Radiology and Medical Imaging, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA.
Jeffrey A. Kuller, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC, 27710, USA.
Matthew T. Whitehead, Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Jennifer L. Cohen, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, 27710, USA.
Juliana S. Gebb, Richard D. Wood Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Orit A. Glenn, Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, 94158, USA.
Mary E. Norton, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, CA, 94158, USA.
Dawn Gano, Department of Neurology & Pediatrics, University of California San Francisco, San Francisco, CA, 94158, USA.

Document Type

Journal Article

Publication Date

3-6-2025

Journal

Brain : a journal of neurology

DOI

10.1093/brain/awaf094

Keywords

fetal neurology; heterotopia; lissencephaly; polymicrogyria; prenatal diagnosis; schizencephaly

Abstract

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 pediatric 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.

Department

Neurology

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