胎儿无脑回-巨脑回畸形超声特点和染色体分析  

Ultrasonographic Features and Chromosomal Analysis of Fetal Agyria-pachygyria

作　　者：赵贤哲 相光华[1] 王逾男 嘉志雄[3] Zhao Xianzhe;Xiang Guanghua;Wang Yunan;Jia Zhixiong(Department of Ultrasound Diagnosis,Guangdong Women and Children Hospital,Guangzhou 510010,China;Prenatal Diagnosis Centre,Guangdong Women and Children Hospital,Guangzhou 510010,China;Neurosurgery Department of Guangzhou Frist People's Hospital,Guangzhou 510180,China)

机构地区：[1]广东省妇幼保健院超声诊断科,广州市510010 [2]广东省妇幼保健院医学遗传中心,广州市510010 [3]广州市第一人民医院神经外科,广州市510180

出　　处：《中国超声医学杂志》2022年第12期1421-1425,共5页Chinese Journal of Ultrasound in Medicine

摘　　要：目的 研究无脑回-巨脑回畸形胎儿的产前超声异常特点和染色体特征,分析该疾病超声检查要点。方法 收集就诊的14例无脑回-巨脑回畸形胎儿资料,包括产前超声影像、MRI检查、产后复查、病理解剖及治疗随访等,分析其颅脑异常超声表现、合并全身其他畸形分类、染色体和基因检查结果。结果 无脑回10例,巨脑回3例,无脑回合并巨脑回1例,预后均不良。产前超声诊断要点:对24周龄以上胎儿合并其他颅脑畸形时,需关注外侧裂、距状沟、顶枕沟局部脑沟回形态。CPT2基因异常可能与颅脑畸形相关。结论 产前超声作为无脑回-巨脑回畸形重要的筛查手段,对胎儿外侧裂、距状沟、顶枕沟层面的清晰扫查将有助于减少漏诊。Objective To study the abnormal and chromosomal characteristics of prenatal ultrasound of agyria-pachygyria fetuses, and analyze the ultrasound examination points of the disease. Methods The data of 14 cases of agyria-pachygyria malformation fetuses were collected, including prenatal ultrasound imaging, MRI examination, postpartum review, pathological anatomy and treatment follow-up, etc, and their craniocerebral abnormalities were analyzed, including ultrasound manifestations, classification of combined other malformations, chromosomal and genetic examination results. Results There were 10 cases of agyria, 3 cases of pachygyria and 1 case of agyria combined with pachygyria. The prognosis was poor. Key points of prenatal ultrasound diagnosis: For fetuses over 24 weeks of age with other craniocerebral malformations, attention should be paid to the morphology of the sylvian fissure, calcarine sulcus, and parieto-occipital sulcus. CPT2 gene abnormality may be associated with craniocerebral malformations. Conclusions Prenatal ultrasound is an important screening method for agyria-pachygyria malformation, and a clear scan of fetal sylvian fissure, calcarine sulcus and parieto-occipital sulcus will help reduce missed diagnosis.

关 键 词：无脑回-巨脑回 产前超声 染色体分析 

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]