Beckwith-Wiedemann综合征的产前超声特征:6例分析  

Prenatal ultrasonographic characteristics of Beckwith-Wiedemann syndrome: analysis of six cases

作　　者：张婷婷[1] 张晓航 冉素真[1] 谭莉娜 王彦[1] Zhang Tingting;Zhang Xiaohang;Ran Suzhen;Tan Lina;Wang Yan(Department of Ultrasonography,Women and Children's Hospital of Chongqing Medical University,Chongqing 401147,China)

机构地区：[1]重庆医科大学附属妇女儿童医院超声科,重庆401147

出　　处：《中华围产医学杂志》2023年第12期1015-1020,共6页Chinese Journal of Perinatal Medicine

基　　金：重庆市科卫联合医学科研项目(2020MSXM030)。

摘　　要：目的总结Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的产前超声特征。方法回顾性分析2015年1月至2022年12月在重庆医科大学附属妇女儿童医院诊断的6例BWS病例的产前超声特征、出生或引产后情况及基因检测结果。采用描述性统计分析。结果6例胎儿产前均有宫内过度生长,超声测值均大于同龄胎儿。产前超声特征包括巨舌伴外伸5例,肝脏增大4例,肾脏增大4例,脐带增粗3例,肠重复畸形2例。6例均有基因检测结果,均与染色体11p15.5区域基因表达异常有关。3例产前确诊后引产,引产后大体标本与产前超声检查结果一致;3例活产儿,生后均表现为巨大儿、巨舌,2例合并脐膨出。结论产前超声检查发现胎儿过度生长、内脏测值增大、巨舌、脐膨出等典型表现时,应考虑诊断BWS。Objective To summarize the prenatal ultrasonographic features of Beckwith-Wiedemann syndrome(BWS).Methods This retrospective study retrieved the records of six cases with BWS from Women and Children's Hospital of Chongqing Medical University from January 2015 to December 2022,to analyze their ultrasonographic features,clinical features after birth or termination,and genetic test results using descriptive statistical analysis method.Results Intrauterine overgrowth was found in all six fetuses by prenatal ultrasound,and the estimated fetal weights were higher for their gestational age.Prenatal ultrasound findings showed macroglossia and protrusion of tongue in five cases,hepatomegaly in four cases,enlarged kidney in four cases,thickened umbilical cord in three cases,and intestinal duplication in two cases.Genetic testing showed that all six cases were associated with genetic damage at the 11p15.5 chromosome region.Three pregnancies were terminated after the diagnosis,and the features of gross specimens were consistent with the prenatal diagnosis.The postnatal clinical manifestations of three live births were macrosomia and macroglossia,two of whom exhibited acromphalus.Conclusion BWS should be considered when fetal overgrowth,visceral enlargement,macroglossia,and acromphalus are found by prenatal ultrasound.

关 键 词：BECKWITH-WIEDEMANN综合征 超声检查 产前 遗传咨询 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714[医药卫生—诊断学]