超声、MRI联合TSC基因检测评估胎儿心脏横纹肌瘤  

Evaluation of Fetal Cardiac Rhabdomyoma by Ultrasound,MRI and TSC Gene Detection——A Multicenter Study

作　　者：赵艳春 翁宗杰[3] 吕国荣[1] 胡建苏 林宁[1] 吴松松 林瀛[2] Zhao Yanchun;Weng Zongjie;Lü Guorong;Hu Jiansu;Lin Ning;Wu Songsong;Lin Ying(Department of Ultrasound,Fujian Provincial Hospital,Fuzhou,Fujian 350001,China;Department of Ultrasound,Fujian Provincial Maternity and Children′s Hospital,Fuzhou,Fujian 350001,China;Maternal and Child Health Service Application Technology Collaborative Innovation Center,Quanzhou,Fujian 362000,China;Department of Ultrasound,Fuzhou First Hospital Affiliated to Fujian Medical University,Fuzhou,Fujian 350009,China)

机构地区：[1]福建医科大学省立临床医学院福建省立医院超声科,福州市350001 [2]福建医科大学省立临床医学院福建省立医院病理科,福州市350001 [3]福建省妇幼保健院超声科 [4]福建省泉州医高专母婴健康服务应用技术协同创新中心 [5]福建医科大学附属福州市第一医院超声影像科

出　　处：《中国超声医学杂志》2020年第12期1108-1111,共4页Chinese Journal of Ultrasound in Medicine

基　　金：2018年福建省卫生计生中青年骨干人才培养项目(No.2018-ZQN-12);福建省自然科学基金(No.2017J01235)。

摘　　要：目的探讨超声、MRI及其联合结节性硬化(TSC)基因检测对评估胎儿心脏横纹肌瘤(CR)的临床价值。方法收集近10年福建省三所产前诊断机构检查并产前超声诊断为心脏横纹肌瘤胎儿的病历,以基因测序结果为标准评价超声、MRI在检测胎儿颅内硬化结节及超声联合MRI诊断结节性硬化症的诊断一致性。对活产儿进行随访。结果产前超声诊断52例胎患有心脏横纹肌瘤,其中10例胎儿期出现心内并发症,以多发横纹肌瘤患儿常见(P<0.05);超声发现颅内硬化结节6例,MRI发现15例,与MRI比较诊断一致性中等偏弱(k=0.44)。超声联合MRI与TSC基因测序预测CR合并TSC的诊断一致性中等(k=0.47)。TSC阴性与阳性活产儿在智力、体质发育方面有差别(P=0.02)。结论超声联合MRI可以发现CR合并颅内硬化结节,但预测CR合并TSC一致性中等,TSC基因测序是必要检测手段。单纯横纹肌瘤胎儿预后较好。Objective To explore the clinical value of ultrasound,MRI combined with tuberous sclerosis complex(TSC)gene detection in the assessment of fetal cardiac rhabdomyoma(CR).Methods The medical records of fetuses diagnosed as cardiac rhabdomyomas by prenatal ultrasound in three prenatal diagnosis institutions of Fujian Province in the past 10years were collected.The diagnostic consistency of ultrasound and MRI in detecting fetal intracranial sclerosis,and ultrasound combined with MRI in the diagnosis of tuberous sclerosis were evaluated.Follow-up were performed on live births.Results 52fetuses with cardiac rhabdomyoma were diagnosed by prenatal ultrasonography,10 of them had intracardiac complications.Multiple rhabdomyomas were cornmon infetases(P<0.05).6fetuses with intracranial sclerosis nodules detected by ultrasound and 15cases detected by MRI,the diagnosis consistency was moderately weak(k=0.44).The diagnostic consistency of ultrasound combined with MRI predicted CR with TSC was moderate compared with TSC gene detection(k=0.47).There were differences in intelligence and physical development between TSC negative and positive of live births(P=0.02).Conclusions Ultrasound combined with MRI can find CR combined with intracranial sclerosis nodules,but to predict the CR combined with TSC the consistency is moderate,TSC gene sequencing is a necessary detection method.Simple rhabdomyomas have a better prognosis for fetuses.

关 键 词：超声检查 产前 胎儿 横纹肌瘤 结节性硬化症 预后 

分 类 号：R714.5[医药卫生—妇产科学]