22q11.2微缺失综合征的产前诊断回顾性研究  

Retrospective study on prenatal diagnosis of fetal 22q11.2 microdeletion syndrome

作　　者：黎冬梅[1] 韩廷雪 唐新华[1] 章锦曼[1] 镡颖 胡继林 杨必成[1] 浦同攀 丰娜 朱宝生[1] 张杰[1] Li Dongmei;Han Tingxue;Tang Xinghua;Zhang Jinman;Chan Ying;Hu Jilin;Yang Bicheng;Pu Tongpan;Feng Na;Zhu Baosheng;Zhang Jie(Department of Medical Genetics,Prenatal Diagnosis Center of Yunnan Province,The First People's Hospital of Yunnan Province,Affiliated Hospital of Kunming University of Science and Technology,National Health Commission Key Laboratory of Preconception Health Birth in Western China,Kunming Yunnan 650032,China)

机构地区：[1]云南省第一人民医院/昆明理工大学附属医院国家卫生健康委西部孕前优生重点实验室云南省产前诊断中心,云南昆明650100

出　　处：《中国产前诊断杂志（电子版）》2024年第3期13-20,共8页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：云南省科技厅昆医联合专项(202001AY070001-122);昆明市科技局计划项目(2023-1-NS-026)。

摘　　要：目的 回顾性分析52例22q11.2微缺失综合征(22q11.2deletion syndrome,22q11.2DS)胎儿孕期超声及遗传学特点,探讨22q11.2DS产前可能的影像学表型特征。方法 回顾性分析2018年1月至2022年12月在云南省第一人民医院进行孕中期(孕18~26周)产前诊断为22q11.2DS的52例胎儿孕期超声、染色体核型分型及拷贝数变异检测(copy number variation,CNV)结果及遗传学特点,统计分析并随访妊娠结局。结果 (1)胎儿超声:82.7%(43/52)有异常表现,最常见的是心脏异常(65.4%,34/52)其中12例合并心外异常(12/52);心脏异常最常见的是法洛四联症、右位主动脉弓、右锁骨下动脉迷走;心外系统异常23例(23/52)出现频率:NT增厚(9/52)、肾脏异常(7/52)、鼻骨发育不良(2/52)、头颅异常(2/52)、胸腺发育不良(3/52)、胃肠道(3/52)、肢体异常(2/52)、羊水多(1/52)。(2)胎儿染色体CNVs结果:46例(46/52)CNVs缺失片段位置在:LCR22A-D18850002150004经典缺失区域,大小在2.65~2.89Mb之间;胎儿表型外显不全、表现度不一致。(3)32例(32/52)亲代溯源检查,结果提示(27/52)新发突变,8例(6个家系)系母系遗传。(4)遗传咨询:45例(45/52)要求终止妊娠;继续妊娠的7例(7/52)中4例目前情况良好,1例(母系遗传)出生后5个月心脏手术治疗,1例拒绝随访,1例发病。结论 22q11.2DS胎儿大多有超声结构异常,主要涉及心脏结构异常,心外异常主要NT增厚及肾积水;有表型胎儿CNVs缺失片段主要在LCR22A-D经典缺失区域但表型外显不全,表现度差异大。Objective To retrospectively analyze the ultrasound and genetic characteristics of 52 fetuses with 22q11.2 microdeletion syndrome(22q11.2DS),and to explore the possible prenatal imaging phenotypic characteristics of 22q11.2 DS.Methods From January 2018 to December 2022,52 fetuses with 22q11.2DS diagnosed prenatally in the second trimester(18-26 weeks of gestation) were retrospectively analyzed forultrasound,karyotyping,copy number variation sequencing findings and genetic characteristics,and the pregnancy outcomes were followed up.Results(1) Most fetuses had ultrasound structural abnormalities(82.7%,43/52).Cardiac structural abnormalities were the most common ultrasound findings(65.4%,34/52).The most common cardiac abnormalitiesincludedright aortic arch(11/52),ventricular septal defect(9/52),aberrant right subclavian artery(8/52),and tetralogy of Fallot(6/52).The frequency of extracardiac structural abnormalities included thickening of NT(9/52),renal abnormalities(7/52),thymus dysplasia(3/52),gastrointestinal tract abnormalities(3/52),skullabnormalities(2/52),nasal bone dysplasia(2/52),limb abnormalities(2/52),and polyhydramnios(1/52).(2) No obvious abnormality was found in fetal karyotype analysis.88.5%(46/52) of fetal CNVs were located in the LCR22A-D18850002150004 classic deletion region,with a size of 2.65-2.89Mb;The fetal phenotype has incomplete penetrance and inconsistent expressivity.(3) 32 cases of fetuses(61.5% 32) underwent pedigree analysis,27 cases(84.4% 27) were found to be de novemutation,and 8 cases were maternally inherited.(4) 45 cases(45/52% 45) requested termination of pregnancy;Among the 7 cases(7/52) who continued pregnancy,4 cases were in good health condition until now,1 case(maternally inherited) was treated with cardiac surgery 5 months after birth,2 cases developed diseases.Conclusion Most fetuses with 22q11.2DS have prenatal ultrasound structural abnormalities,mainly involving cardiac structural abnormalities.The main extracardiac abnormalities were thickening ofNTand hydronephrosis;Th

关 键 词：22q11.2q微缺失综合征 产前诊断 拷贝数变异 胎儿 结构异常 

分 类 号：R715.5[医药卫生—妇产科学]