Prenatal ultrasonographic characteristics of Beckwith-Wiedemann syndrome: analysis of six cases
10.3760/cma.j.cn113903-20230724-00038
- VernacularTitle:Beckwith-Wiedemann综合征的产前超声特征：6例分析
- Author:
Tingting ZHANG
1
;
Xiaohang ZHANG
;
Suzhen RAN
;
Lina TAN
;
Yan WANG
Author Information
1. 重庆医科大学附属妇女儿童医院超声科，重庆 401147
- Keywords:
Beckwith-Wiedemann syndrome;
Ultrasonography, prenatal;
Genetic counseling
- From:
Chinese Journal of Perinatal Medicine
2023;26(12):1015-1020
- CountryChina
- Language:Chinese
-
Abstract:
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.
