产前诊断Beckwith-Widedemann综合征3例  

Prenatal diagnosis of Beckwith-Wiedemann syndrome:3 cases report

作　　者：吴丽萍[1] 杨昕 皮回春 黄如纯 吴思琪 罗小金 刘维强 WU Liping;YANG Xin;PI Huichun;HUANG Ruchun;WU Siqi;LUO Xiaojin;LIU Weiqiang(Department of Medical Genetics and Prenatal Diagnosis,Longgang District Maternity&Child Healthcare Hospital of Shenzhen City/Longgang Maternity and Child Institute of Shantou University Medical College,Shenzhen,Guangdong 518172,China;Department of Central Laboratory,Longgang District Maternity&Child Healthcare Hospital of Shenzhen City/Longgang Maternity and Child Institute of Shantou University Medical College,Shenzhen,Guangdong 518172,China)

机构地区：[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

出　　处：《中国优生与遗传杂志》2024年第5期1025-1030,共6页Chinese Journal of Birth Health & Heredity

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。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 Department of Medical Genetics and Prenatal Diagnosis of Longgang District Maternal and Child Health Hospital of Shenzhen from December 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 spectrum 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 amniotic 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 

分 类 号：R714.5[医药卫生—妇产科学]