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

IF 0.9 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Fang-Tzu Wu, Chih-Ping Chen
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Abstract

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.
产前超声中胼胝体异常:诊断和进一步咨询的叙述回顾
胼胝体是主要的脑半球间束,在神经功能中起着重要作用。了解病因和胚胎发育有助于胼胝体疾病的超声诊断和进一步的咨询。透明隔腔轴位未见或透明隔腔畸形是初学者诊断胼胝体完全发育不全(cACC)和胼胝体部分发育不全(pACC)的间接征象。进一步的冠状面、矢状面和胎儿磁共振成像对评估也很重要。基因检测在胼胝体异常中发挥着重要的作用,它揭示了潜在的遗传病理生理,如30%-45%的ACC中的染色体异常和许多单基因疾病。由于文献报道有限,与cACC和pACC相比,胼胝体发育不全或增生的诊断和预后预测更为困难。然而,与孤立型相比,复杂型往往预后较差。因此,重要的是评估和跟踪胎儿状况彻底排除颅内或颅外畸形在其他系统。
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来源期刊
Journal of Medical Ultrasound
Journal of Medical Ultrasound RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.30
自引率
9.10%
发文量
90
审稿时长
10 weeks
期刊介绍: The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.
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