产前诊断Beckwith-Widedemann综合征3例
Prenatal diagnosis of Beckwith-Wiedemann syndrome:3 cases report
吴丽萍 1杨昕 1皮回春 1黄如纯 1吴思琪 1罗小金 2刘维强2
作者信息
- 1. 深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院医学遗传与产前诊断科,广东深圳 518172
- 2. 深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院中心实验室,广东深圳 518172
- 折叠
摘要
目的 探讨3例Beckwith-Wiedemann综合征(BWS)胎儿的临床表型与遗传学病因,为BWS胎儿产前诊断提供依据.方法 回顾性分析2020年12月至2023年4月于深圳市龙岗区妇幼保健院医学遗传与产前诊断科诊断的3例BWS患儿临床资料,对患儿的临床表型及遗传学检测进行总结分析并复习文献.结果 3例BWS患儿2例出生、1例引产,涉及的临床表型有脐膨出(3/3)、巨舌(3/3)、腹围大(3/3)、羊水多(3/3)、出生后低血糖(2/2)、耳朵折痕(2/2)、脐带长(1/3),遗传学检测发现2例为母源性IC2印记中心甲基化缺失,1例为11p15.5区域IC1印迹中心区域父源性重复.结论 BWS胎儿临床表现多样,产前超声若提示脐膨出、腹围大、巨舌、羊水多等临床表型时,应在常规遗传学检测外加上MS-MLPA检测,避免产前漏诊断,利于BWS患儿的早期管理.
Abstract
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.
关键词
Beckwith-Widedemann综合征/产前诊断/基因印记Key words
Beckwith-Widedemann syndrome/prenatal diagnosis/genomic imprinting引用本文复制引用
出版年
2024
NETL
NSTL
万方数据