胎儿小脑皮质发育不良的产前超声诊断  

Prenatal diagnosis of fetal cerebellar cortical dysplasia by ultrasound

作　　者：丁妍 文华轩 陈芷萱 曾晴 张梦雨 廖伊梅 罗丹丹 秦越 梁美玲 邹于 李胜利 Ding Yan;Wen Huaxuan;Chen Zhixuan;Zeng Qing;Zhang Mengyu;Liao Yimei;Luo Dandan;Yue Qin;Liang Meiling;Zou Yu;Li Shengli(Department of Ultrasound,Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University,Shenzhen 518028,China)

机构地区：[1]南方医科大学附属深圳妇幼保健院超声科,518028

出　　处：《中华医学超声杂志（电子版）》2023年第3期255-264,共10页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：国家自然科学基金(81771598);国家重点研发计划(2018YFC1002202);深圳市科技计划项目(JCYJ20170307091013214)。

摘　　要：目的探讨小脑皮质发育不良(CCD)胎儿产前超声声像图特征。方法结合相关文献及胎儿MRI、解剖、基因检测结果及临床预后等,对2017年1月至2020年12月在南方医科大学附属深圳妇幼保健院系统超声检查中考虑存在CCD的19例胎儿的产前超声声像图表现进行总结分析。结果19例CCD胎儿产前超声声像图典型表现为:小脑叶裂失去正常水平走行、排列规整的弧形形态,而呈斜行、垂直走行或扭曲状;12例行遗传学检测,其中异常结果9例,无异常结果3例;临床预后:19例胎儿中3例活产,随访结果分别为:1例17个月,头围大于同龄儿,无明显神经系统症状;1例24个月,存在精细运动不足;1例24个月,存在全面性发育迟缓、癫痫、智力障碍等。其余16例均引产。结论CCD胎儿产前超声有特征性表现;产前超声发现胎儿小脑叶裂形态、走行异常时可以做出提示性诊断。CCD通常合并其他颅脑结构畸形及基因、染色体异常等,孤立性病变罕见,其出现预后不良的风险产前难以准确评估。Objective To explore the prenatal ultrasound features of fetal cerebellar cortical dysplasia.Methods Referring to the relevant literature on cerebellar cortical dysplasia and based on its magnetic resonance imaging findings,anatomy,genetic results,and clinical prognosis,the prenatal ultrasonographic manifestations of 19 fetuses with cerebellar cortical dysplasia diagnosed by ultrasound at Department of Ultrasound,Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University from January 2017 to December 2020 were summarized.Results The prenatal ultrasonogram of cerebellar cortical dysplasia was characterized by abnormal orientation of fissures,and oblique,vertical,or distorted fissures.Genetic tests were performed in 12 cases,of which 9 had positive results and 3 had negative results.Three of the 19 fetuses after birth were followed up to 17 months,24 months,and 24 months,respectively;the head circumference of one case was larger than that of normal infants of the same age though no obvious abnormality in psychomotor development was found,one case had only fine motor deficiency,and one case had poor outcome,including global developmental delay,mental retardation,and epilepsy.Pregnancy was terminated in all the other 16 cases.Conclusion Cerebellar cortical dysplasia can be prenatally diagnosed based on the characteristic ultrasonic features.Cerebellar cortical dysplasia rarely presents as a single finding and is commonly associated with malformations of the brain or other posterior fossa malformations,chromosomal abnormalities,and genetic syndromes.It is difficult to accurately assess the risk of poor prognosis of cerebellar cortical dysplasia.

关 键 词：超声检查 产前 小脑皮质 小脑发育不良 中枢神经系统 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]