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

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY Pediatric neurology Pub Date : 2024-10-26 DOI:10.1016/j.pediatrneurol.2024.10.014

Barbara Scelsa MD , Dawn Gano MD, MAS , Anthony R. Hart MBChB, PhD , Brigitte Vollmer MD, PhD , Monica E. Lemmon MD , Tomo Tarui MD , Sarah B. Mulkey MD, PhD , Mark Scher MD , Andrea C. Pardo MD , Sonika Agarwal MBBS, MD , Charu Venkatesan MD, PhD

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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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产前诊断的全脑畸形：文献综述和对儿科神经学家的实用建议》。

全脑畸形（HPE）是胚胎发育过程中最常见的畸形之一。HPE 表现为前脑结构的中线裂开。此外，还可观察到不同程度的面部畸形。HPE 很可能是由基因突变和怀孕最初几周的环境影响共同作用的结果。一些 HPE 患者会早期死亡，而另一些患者则会出现神经发育障碍。准确的胎儿成像有助于诊断和产前咨询，但更细微的脑部异常可能难以在产前诊断。胎儿咨询可能很复杂，因为发病机制尚不清楚，而且遗传性基因突变普遍存在不同的渗透性。本综述旨在研究有关 HPE 的文献，并为儿科神经学家提供有关胎儿咨询和产后护理的建议。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.