Objective To investigate the clinical phenotype and genetic etiology of three cases with Beckwith-Wiedemann syndrome(BWS),and to provide evidence for prenatal diagnosis of BWS.Methods Three BWS patients diagnosed in the Depart-ment of Medical Genetics and Prenatal Diagnosis of Longgang District Maternal and Child Health Hospital of Shenzhen from De-cember 2020 to April 2023 were retrospectively analyzed.Their clinical histories,prenatal ultrasonographic features,and results of molecular diagnosis were presented.Likewise,by incorporating the findings of our cases and literature review,the phenotypic spec-trum and genotype-phenotype correlations of fetal BWS were summarized.Results Among the 3 cases,2 cases were born and 1 case was induced.The clinical phenotypes involved were omphalocele(3/3),giant tongue(3/3),large abdominal circumference(3/3),polyhydramnios(3/3),postnatal hypoglycemia(2/2),ear crease(2/2),and umbilical cord length(1/3).Genetic test for BWS was performed,and 3 cases were confirmed the diagnosis of BWS,among which 2 cases showed IC2 hypomethylation on chromosome 11p15,and 1 case had paternal fragment duplication in the IC1 imprinting center of 11p15.5 region.Conclusion BWS fetuses have variable clinical genotypes.When phenotypes such as omphalocele,large abdominal circumference,giant tongue and multiple amni-otic fluid were found by ultrasound,MS-MLPA detection is suggested to avoid a missed diagnosis of BWS.
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