产前超声间接征象在部分型胼胝体发育不全诊断中的价值  

The value of indirect signs of prenatal ultrasound in the diagnosis of partial agenesis of the corpus callosum

作　　者：冯芳芳 栗河舟[1] FENG Fang-fang;LI He-zhou(Department of Ultrasound,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第三附属医院超声科,河南郑州450052

出　　处：《中国临床医学影像杂志》2022年第6期425-429,共5页Journal of China Clinic Medical Imaging

摘　　要：目的:探讨产前超声的间接征象在部分型胼胝体发育不全中的诊断价值。方法:产前超声与核磁共振共同诊断为部分型胼胝体发育不全的胎儿35例,回顾性分析产前超声的图像特征。结果:部分型胼胝体发育不全的产前超声间接征象:透明隔腔异常(91.4%)、脑中线处与第三脑室相通的囊性包块(62.8%)、大脑纵裂池增宽(62.8%)、侧脑室不同程度扩张(45.7%)。合并颅内畸形者19例,合并颅外畸形者15例。6例行产前遗传学诊断,4例行染色体微阵列检查为阴性,2例行全外显子组检测分析,检测出新发变异致病基因。结论:产前超声表现出来的间接征象对于诊断胎儿期部分型胼胝体发育不全有重要价值。Objective: To investigate the diagnostic value of indirect signs of prenatal ultrasound in partial agenesis of the corpus callosum. Methods: Thirty-five fetuses with partial agenesis of the corpus callosum diagnosed by prenatal ultrasound and MRI were analyzed retrospectively. Results: Indirect signs of prenatal ultrasound: septum pellucidum abnormalities(94.1%),cystic mass connected with the third ventricle at the midline of the brain(62.8%), the cisterna fissura longitudinalis cerebri broadening(62.8%), expansion of lateral ventricle(45.7%). 19 cases with intracranial malformation and 15 cases with extracranial malformation. Prenatal genetic diagnosis was performed in 6 cases, chromosome microarray tests were negative in 4 cases, and complete exon tests were performed in 2 cases to detect new mutation pathogenic genes. Conclusion: The indirect signs of prenatal ultrasound are important for the diagnosis of partial agenesis of the corpus callosum.

关 键 词：胼胝体发育不全 超声检查 产前 

分 类 号：R714.43[医药卫生—妇产科学] R742[医药卫生—临床医学] R445.1