Chapman Teresa, Mirsky David M, Iruretagoyena J Igor, Guimaraes Carolina V
Department of Radiology, University of Wisconsin-Madison, 600 Highland Ave, Madison, WI, 53792, USA.
Department of Radiology, University of Colorado Anschutz Medical Campus, Aurora, USA.
Pediatr Radiol. 2025 Jun 16. doi: 10.1007/s00247-025-06272-9.
Assessment of the fetal brain is a routine part of standard and detailed prenatal ultrasound. Further evaluation of central nervous system abnormalities identified by prenatal ultrasound is a common indication for fetal MRI. Infratentorial malformations identified by diagnostic imaging may be isolated or may occur with supratentorial anomalies and with multisystemic anomalies or syndromes. The interpretation of posterior fossa abnormalities and their implications for diagnosis and prenatal counseling can benefit from recognizing the dominant morphological feature. This review discusses the ultrasound and MRI characteristics of developmental anomalies affecting the cerebellum and brainstem, focusing on their primary imaging characteristic: cystic anomalies, cerebellar dysgenesis, and brainstem malformations. Key findings on imaging are provided to guide the radiologist in arriving at a reasonable diagnosis. Genetic implications are also provided.
胎儿脑部评估是标准和详细产前超声检查的常规部分。对产前超声检查发现的中枢神经系统异常进行进一步评估是胎儿MRI的常见指征。诊断性影像学检查发现的幕下畸形可能是孤立的，也可能与幕上异常、多系统异常或综合征同时出现。认识主要形态学特征有助于解读后颅窝异常及其对诊断和产前咨询的意义。本综述讨论了影响小脑和脑干的发育异常的超声和MRI特征，重点关注其主要影像学特征：囊性异常、小脑发育不全和脑干畸形。提供影像学关键表现以指导放射科医生做出合理诊断。还介绍了遗传学意义。
