产前诊断22q11.2区域微重复11例表型分析  

Phenotype analysis of 11 fetuses with 22q11.2 microduplication diagnosed prenatally

作　　者：翟洪波[1] 朱惠青 怀磊 詹欣[1] 鲁建央 鲁才娟 潘晶晶 吴雅枫 Hongbo Zhai;Huiqing Zhu;Lei Huai;Xin Zhan;Jianyang Lu;Caijuan Lu;Jingjing Pan;Yafeng Wu(Prenatal Diagnosis Center,Affiliated Hangzhou First People′s Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China;Technical of Support Center of Zhejiang Biosan Biotechnology Co.Ltd.,Hangzhou 310012,China)

机构地区：[1]浙江大学医学院附属杭州市第一人民医院产前诊断中心,杭州310003 [2]浙江博圣生物技术股份有限公司技术部,杭州310012

出　　处：《中华全科医师杂志》2022年第12期1164-1168,共5页Chinese Journal of General Practitioners

基　　金：杭州市医学重点学科建设项目(oo20200450)。

摘　　要：目的分析11例22q11.2区域微重复胎儿的产前诊断结果及出生后表型特征。方法2016年1月至2020年2月在杭州市第一人民医院进行产前诊断、染色体核型以及染色体微阵列分析(CMA)者共2969例,结果为22q11.2区域微重复胎儿共11例。对胎儿表型、遗传学结果、妊娠结局及出生后临床表现进行回顾性分析。结果11例胎儿在22q11.2区域内有经典的3.0 Mb微重复[即腭面心综合征(DiGeorge and velocardiofacial syndromes,DGS/VCFS)]6例、1.5 Mb近端微重复1例及远端小片段微重复4例。家系遗传背景:遗传7例,新发2例,未验证(拒绝验证)者2例。胎儿超声检查显示:结构异常2例(室间隔缺损和无脑儿),胎儿生长受限2例,无结构异常7例。妊娠结局:引产4例,其中2例为产科筛查高风险、经典的3.0 Mb微重复、超声检查未见异常,1例为高龄、经典的3.0 Mb微重复、超声检查诊断为胎儿生长受限,1例为胎儿超声检查异常、远端小片段微重复、超声检查无脑畸形;足月分娩7例(经典的3.0 Mb微重复3例、1.5 Mb近端微重复1例及远端小片段微重复3例),出生后均进行随访,异常表型3例(生长发育落后等),无明显异常表型4例。结论22q11.2微重复胎儿的临床表型无特异性,出生后表型多样,需加强专业遗传咨询和长期随访,孕妇及其家属需充分了解可能出现的临床表型并做出知情选择。Objective To analyze the clinical phynotypes of fetuses with 22q11.2 microduplications.Method Eleven fetuses were diagnosed with 22q11.2 microduplications among 2969 cases who underwent prenatal chromosomal microarray analysis from January 2016 to February 2020.The phenotypes,indications for invasive prenatal diagnosis,genetic results,pregnancy outcomes and postnatal clinical presentation were analyzed.Results There were 6 cases diagnosed with classic 3.0 Mb microduplication(DiGeorge and velocardiofacial syndromes,DGS/VCFS)in the 22q11.2,1 case with 1.5 Mb proximal microduplication and 4 cases with distal small segment microduplication(E-H).Out of 11 fetuses with 22q11.2 microduplications,7 cases were inherited,2 cases was de novo and data were not available for 2 cases.Vicular septal defect and anencephalu were diagnosed by ultrasonography in 2 cases,fetal growth restriction was diagnosed in 2 cases,no any abnormalities were found in remaining 7 cases.Seven cases(3 cases of classic 3.0 Mb microduplication,1 case of proximal microduplication and 3 cases of distal small segment microduplication)were delivered at full-term;and pregnancy was terminated in 4 cases.Seven infants were followed up after birth,4 infants were normal,3 showed abnormal phenotypes.Conclusion The clinical phenotypes after birth of fetuses with 22q11.2 microduplication are diverse.Prenatal genetic counseling is necessary,so that pregnant women and their families can fully understand the possible clinical phenotypes and make informed choices.

关 键 词：基因重排 22q11.2区域微重复 染色体微阵列分析 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]