72例胎儿中枢神经系统发育异常的多学科会诊结果分析

Result analysis of multidisciplinary consultation about 72 cases with fetal central nervous system abnormalities

目的对胎儿中枢神经系统发育异常的多学科会诊资料进行回顾性分析,探讨诊断、处理及预后。方法 2015年1月~12月,北京大学第一医院胎儿医学中心共会诊132例妊娠中晚期的胎儿发育异常病例,其中中枢神经系统发育异常72例,占会诊总例数的54.5%。72例患者均经超声检查发现胎儿异常,再行胎儿MRI确诊。部分孕妇行染色体核型分析和基因检测等产前遗传学诊断。结果 72例胎儿中,脑室异常47例(65.3%,47/72),其中双侧侧脑室增宽24例(33.3%,24/72),单侧脑室增宽15例(20.8%,15/72),侧脑室不对称8例(11.1%,8/72)。其他类型的异常包括脑发育不良、囊肿、肿瘤等,共25例(34.7%,25/72)。72例病例中,引产22例(30.6%,22/72),其中因双侧侧脑室增宽引产6例;因脑积水、胼胝体缺如引产各3例;因其他异常引产10例。结论产前超声发现胎儿侧脑室增宽等中枢神经系统异常,可行MRI进一步检查。对重度侧脑室增宽,或存在明显脑组织结构异常的胎儿,应告知孕妇及家属可能存在的风险,并进行多学科会诊以明确诊断、评估预后。

Objective To explore the diagnosis, treatment and prognosis by retrospectively analyzing the data of multidisciplinary consultation of fetal central nervous system abnormalities. Methods From January to December 2015, 132 cases of medium and late pregnancy with fetal dysplasia were consulted by fetal medical center of Peking University First Hospital. In these cases, there were 72 cases with fetal central nervous system abnormalities which accounted for 54.5%. All the 72 cases were found fetal abnormalities by ultrasound examination and then confirmed by MRI. Karyotype analysis or gene detection was performed in 40 cases. Results A total of 47 cases （65.3%, 47/72） were identified as abnormal lateral ventricles, including 24 cases （33.3%, 24/72） with bilateral ventriculomegaly, 15 cases （20.8%, 15/72） with unilateral ventriculomegaly and 8 cases （11.1%, 8/72） with asymmetrical ventricles. 25 cases（34.7%, 25/72） were diagnosed as other types of abnormity, including cerebral dysplasia, cyst, tumor, and so on. Labor Inductions were performed in 22 cases （30.6%, 22/72）, 6 cases with bilateral ventriculomegaly, 3 cases with hydrocephalus, 3 cases with agenesis of corpus callosum and 10 cases with other abnormalities. Conclusions If fetal central nervous system abnormalities such as ventriculomegaly are found by prenatal ultrasound examination, MRI can be chosen for further inspection. The pregnant women and their families should be informed the potential risks about fetal sever ventriculomegaly or obvious brain structure abnormalities, and multidisciplinary consultation should be held to make a definite diagnosis and evaluate prognosis.