Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists

Barbara Scelsa, Department of Pediatric Neurology, Buzzi Children's Hospital, University of Milan, Milan, Italy. Electronic address: barbara.scelsa@asst-fbf-sacco.it.
Dawn Gano, Department of Neurology & Pediatrics, University of California San Francisco, San Francisco, California.
Anthony R. Hart, Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK.
Brigitte Vollmer, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Neonatal and Paediatric Neurology, Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Monica E. Lemmon, Department of Pediatrics and Population Health Sciences, Duke University School of Medicine, Durham, North Carolina.
Tomo Tarui, Division of Pediatric Neurology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Sarah B. Mulkey, Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia; Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
Mark Scher, Emeritus Full Professor Pediatrics and Neurology, Case Western Reserve University School of Medicine.
Andrea C. Pardo, Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago Illinois.
Sonika Agarwal, Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Charu Venkatesan, Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Document Type

Journal Article

Publication Date

1-1-2025

Journal

Pediatric neurology

Volume

162

DOI

10.1016/j.pediatrneurol.2024.10.014

Keywords

Fetal MRI; Fetal brain; Fetal counseling; Fetal neurology; Fetus; Holoprosencephaly; Neurodevelopment

Abstract

Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed. It is probable that HPE results from a combination of genetic mutations and environmental influences during the initial weeks of pregnancy. Some patients with HPE experience early death, whereas others go on to experience neurodevelopmental impairment. Accurate fetal imaging can facilitate diagnosis and prenatal counseling, although more subtle brain abnormalities can be difficult to diagnose prenatally. Fetal counseling can be complex, given that the etiopathogenesis remains unclear and variable penetrance is prevalent in inherited genetic mutations. The aim of this narrative review is to examine the literature on HPE and to offer recommendations for pediatric neurologists for fetal counseling and postnatal care.

Department

Pediatrics

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