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产前超声检查中胼胝体异常:诊断与进一步咨询的叙述性综述

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling.

作者信息

Wu Fang-Tzu, Chen Chih-Ping

机构信息

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

出版信息

J Med Ultrasound. 2023 Nov 10;32(2):99-103. doi: 10.4103/jmu.jmu_49_23. eCollection 2024 Apr-Jun.

Abstract

The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further counseling. The nonvisualization of cavum septum pellucidum or dysmorphic cavum septum pellucidum in axial view are indirect signs for beginners to diagnose complete agenesis of corpus callosum (cACC) and partial agenesis of the corpus callosum (pACC). Further coronal view, sagittal view, and fetal magnetic resonance imaging are also important for evaluation. Genetic testing plays an essential tool in anomalies of corpus callosum by revealing the underlying genetic pathophysiology, such as chromosomal anomalies and numerous monogenetic disorders in 30%-45% of ACC. Diagnosis and prediction of prognosis for hypoplasia or hyperplasia of the corpus callosum are more difficult compared to cACC and pACC because of the limited reports in the literature. However, the complex types often had poorer prognostic outcomes compared to the isolated types. Hence, it is important to evaluate and follow fetal conditions thoroughly to rule out intracranial or extracranial anomalies in other systems.

摘要

胼胝体是主要的半球间神经纤维束,在神经功能中起重要作用。了解其病因和胚胎发育有助于超声诊断胼胝体疾病并进行进一步的咨询。轴位视图中透明隔腔未显示或透明隔腔形态异常是初学者诊断完全性胼胝体发育不全(cACC)和部分性胼胝体发育不全(pACC)的间接征象。进一步的冠状位视图、矢状位视图以及胎儿磁共振成像对于评估也很重要。基因检测通过揭示潜在的遗传病理生理学,如30%-45%的胼胝体发育不全(ACC)中的染色体异常和众多单基因疾病,在胼胝体异常中起着重要作用。与cACC和pACC相比,由于文献报道有限,胼胝体发育不全或增生的诊断和预后预测更为困难。然而,复杂类型的预后通常比孤立类型更差。因此,全面评估和跟踪胎儿情况以排除其他系统中的颅内或颅外异常非常重要。

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本文引用的文献

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