头颅超声对4例FGFR2基因缺陷新生儿胼胝体形态的评估

Morphological evaluation of corpus callosum by cranial ultrasonography in 4 neonates with FGFR2 gene defects

目的通过已经建立的头颅超声胼胝体形态评估模型,对FGFR2基因缺陷新生儿进行胼胝体表型评估,探索该疾病的新生儿期头颅影像可识别表型。方法纳入2016年1月至2017年12月复旦大学附属儿科医院新生儿基因组计划中高通量测序检测到FGFR2基因致病变异或可疑致病变异的新生儿,收集临床及影像信息;利用头颅超声技术,二维测量胼胝体嘴部、膝部、体部、压部厚度,利用计算机辅助分析构建胼胝体虚拟三维结构并计算容积,行胼胝体形态评估。结果6例FGFR2基因缺陷新生儿进入本文分析,均存在不同程度颜面部发育异常,其中有4例有完整影像学资料的进入进一步评估:3例经MRI及超声评估,一致诊断为胼胝体发育异常,1例未行MRI检查,但超声评估为胼胝体发育异常。结论鉴于FGFR2基因缺陷表型的多样性,将胼胝体形态评估模型应用于此类疾病,有助于建立头颅影像可识别表型,而且有望能将该超声可识别的表型用于围产期筛查,为FGFR2基因突变的遗传干预、咨询提新的思路。

Objective To search for characteristic markers for neonatal screening in FGFR2-related diseases by applying a corpus callosum morphological evaluation model.Methods The morphological modeling included 2D thickness measurements of each part and computer-aided analysis of 3D virtural corpus callosum.Results Six neonates with FGFR2 gene pathogenic mutation or suspected pathogenic mutation in neonatal genome project were enrolled and all of them had different degrees of special facial features and abnormal cranial morphology.Four of them underwent corpus callosum morphological evaluation,of whom 3 were diagnosed as abnormal by MRI and cranial ultrasonography and 1 of them undergoing only cranial ultrasonography was also diagnosed as abnormal.Conclusion The application of corpus callosum morphologic evaluation in FGFR2-related diseases is expected to identify the potential marker phenotype which could be used in perinatal screening.