产前超声诊断胼胝体缺如胎儿的预后  

Prenatal ultrasound diagnosis of fetal prognosis in absence of corpus callosum

作　　者：黄瑞娜[1] 陈俊雅[1] 范丽欣[1] 张潇潇[1] HUANG Rui-na;CHEN Jun-ya;FAN Li-xin;ZHANG Xiao-xiao(Department of Obstetrics and Gynecology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院妇产科,北京100034

出　　处：《中国临床医学影像杂志》2022年第7期474-476,共3页Journal of China Clinic Medical Imaging

摘　　要：目的:总结胎儿完全性胼胝体缺如(CACC)的超声表现及预后,分析影响CACC胎儿出生后的预后因素,为临床提供更完善的临床咨询。方法:回顾分析2016年1月—2021年10月北京大学第一医院超声提示胎儿CACC的42例病例的超声图像并追踪妊娠结局。根据超声有无合并其它结构畸形及染色体异常,将42例病例分为两组:非孤立性CACC 19例(45%);孤立性CACC 23例(55%)。结果:19例非孤立性CACC合并颅内畸形14例,颅外畸形5例;4例行MRI检查,均未有附加异常发现;8例行遗传学检查,未发现致病性异常;终止妊娠17例;失访2例。23例孤立性CACC行MRI者8例,均与超声结果相同;10例行遗传学检查,均未发现致病性异常;终止妊娠17例;失访2例;出生4例。随访4例出生患儿,目前发育均正常。结论:决定CACC的预后不是CACC本身,而是CACC合并的畸形。所以产前发现CACC时,要综合超声、MRI、遗传学充分评价,所采取的超声方法是胎儿中枢神经超声学,而非普通超声检查。孤立性CACC患儿预后正常的几率大。Objective: To summarize the ultrasonographic manifestations and prognosis of complete agenesis of the corpus callosum(CACC), analyze the prognostic factors affecting the fetus after birth, and provide more perfect clinical consultation.Methods: Ultrasound images of 42 cases of CACC diagnosed by ultrasound in Peking University First Hospital from January2016 to October 2021 were retrospectively analyzed and pregnancy outcomes were tracked. The 42 cases were divided into two groups according to the presence or absence of other structural malformations and chromosomal abnormalities: non-isolated CACC in 19 cases(45%). Isolated CACC in 23 cases(55%). Results: There were 14 cases of non-isolated CACC complicated with intracranial malformation and 5 cases with extracranial malformation. No additional abnormality was found in 4 cases of MRI examination. Eight cases underwent genetic examination, and no pathogenicity abnormality was found. Seventeen cases terminated pregnancy and 2 cases were lost to follow-up. MRI was performed in 8 of 23 cases of isolated CACC, all of which had the same results as ultrasound. Ten cases of genetic examination were performed, and no pathogenicity abnormality was found. Seventeen cases terminated pregnancy, 2 cases lost to follow-up, 4 cases were born. All the 4 children were fol-lowed up and developed normally. Conclusion: The prognosis of CACC is not CACC itself, but the malformation of CACC combination. Therefore, when CACC is found prenatal, a comprehensive evaluation of ultrasound, MRI, and genetics should be performed, and neurosonogram should be used instead of conventional ultrasound. Children with isolated CACC are more likely to have a normal prognosis.

关 键 词：胼胝体发育不全 胎儿 超声检查 产前 

分 类 号：R714.53[医药卫生—妇产科学] R445.1[医药卫生—临床医学]