Pardo AC, Agarwal S, Vollmer B, Venkatesan C, Scelsa B, Lemmon ME, Mulkey SB, Scher M, Hart AR, Gano D, Tarui T. Fetal Callosal Anomalies: A Narrative Review and Practical Recommendations for Pediatric Neurologists. Pediatr Neurol. 2025 Apr;165:117-127. doi: 10.1016/j.pediatrneurol.2025.01.022. Epub 2025 Feb 10. PMID: 40020510.
Abstract
Agenesis of the corpus callosum is a common indication for fetal neurology consultation, increasingly identified through advances in fetal sonography and fetal magnetic resonance imaging. Despite improvements in diagnostic accuracy, prognostic counseling is challenging due to highly variable neurodevelopmental outcomes. Several factors contribute to neurodevelopmental outcome variability, including associated anomalies and etiologic considerations such as genetic, acquired, and environmental factors. This narrative review discusses existing literature on prenatal findings, postnatal outcomes, and comorbidities to provide practical guidelines for prenatal diagnosis, counseling, and postnatal management. Additionally, practice and research gaps are identified to advocate for guidelines to improve counseling, management, and optimization of outcomes for affected children and families.
Venkatesan C, Gano D, Scelsa B, Vollmer B, Lemmon ME, Pardo AC, Mulkey SB, Tarui T, Scher M, Hart AR, Agarwal S. Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists. Pediatr Neurol. 2025 Mar;164:17-24. doi: 10.1016/j.pediatrneurol.2024.12.014. Epub 2024 Dec 30. PMID: 39827528.
Abstract
Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia. The purpose of this narrative review on absent septum pellucidum and septo-optic dysplasia is to discuss the literature, including pre- and postnatal management and neurodevelopmental outcome, provide practical recommendations, and outline research gaps to advance this nascent field.
Scelsa B, Gano D, Hart AR, Vollmer B, Lemmon ME, Tarui T, Mulkey SB, Scher M, Pardo AC, Agarwal S, Venkatesan C. Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists. Pediatr Neurol. 2025 Jan;162:87-96. doi: 10.1016/j.pediatrneurol.2024.10.014. Epub 2024 Oct 26. PMID: 39577233.
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.
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