产前1q21.1微缺失/微重复胎儿的超声表现和妊娠结局分析  

Analysis of ultrasound findings and pregnancy outcomes of 1q21.1 microdeletion/microduplication fetuses

作　　者：郭岩芸 刘维强 陈晓杭 丛潇怡 刘效伊 牛宏艳 周飞 罗小金[2] GUO Yanyun;LIU Weigiang;CHEN Xiaohang;CONG Xiaoyi;LIU Xiaoyi;NIU Hongyan;ZHOU Fei;LUO Xiaojin(Longgang District People's Hospital of Shenzhen Ciy,Shenzhen,Guangdong 518172,China;Longgang Districn Maternity&Child Heathcare Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China)

机构地区：[1]深圳市龙岗区人民医院,广东深圳518172 [2]深圳市龙岗区妇幼保健院,广东深圳518172

出　　处：《中国优生与遗传杂志》2023年第9期1913-1916,共4页Chinese Journal of Birth Health & Heredity

基　　金：深圳市龙岗区医疗卫生科技计划项目(LGKCYLWS2020106、LGKCYLWS2020157)。

摘　　要：目的分析产前孕中晚期1q21.1微缺失/微重复胎儿的超声表现、单核苷酸多态性微阵列(SNP-array)结果、妊娠结局和跟踪随访,探索产前1q21.1微缺失/微重复综合征的基因组与临床表型的相关性。方法对15例行单核苷酸多态性微阵列(SNP-array)检测诊断为1q21.1微缺失/微重复胎儿进行回顾性分析,分析其超声异常情况、父母溯源、妊娠结局和出生后随访情况。结果15例1q21.1微缺失/微重复片段大小介于806 kb~3.9 Mb,主要包括GJA5、GJA8、CHD1L、PRKAB2、BCL9等致病基因。15例病例中9例胎儿超声表现异常特征,其中心脏部位(室间隔缺损、主动脉狭窄、肺动脉反流、心脏强回声)的超声异常5例(30.0%,5/15),肾脏或输尿管的超声异常2例(13.3%,2/15),侧脑室增宽2例(13.3%,2/15)。15例病例中9例(60.0%,9/15)选择终止妊娠,其中2例(28.6%,2/7)引产胎儿表型畸形,一例为胎儿左手轴后多指,一例胎儿唇腭裂。6例(40.0%,6/15)选择继续妊娠,其中2例(33.3%,2/6)新生儿异常临床表型,一例听力受损,一例室间隔缺失。结论产前1q21.1微缺失/微重复胎儿具有广泛的非特异临床表型,以心脏结构异常和泌尿系畸形最为常见,具有明显表型差异化及不完全外显。产前超声联合SNP-aray检测有助于明确1q21.1微缺失/微重复胎儿的基因组与临床表型关系,为孕妇妊娠选择和预后治疗提供理论依据。Objective To analyze the ultrasound findings,single nucleotide polymorphism array(SNP-array)results,pregnancy outcomes,and follow-up of the fetus with 1q21.1 microdeletion/duplication in the second and third trimester of prenatal pregnancy,and explore the correlation between the genome and clinical phenotype of 1q21.1 microdeletion/duplication syndrome.Methods A retrospective analysis was conducted on 15 fetuses diagnosed as 1q21.1 microdeletion/microduplication by single nucleotide polymorphism microarray(SNP-array)testing.The ultrasound abnormalities,parental traceability,pregnancy outcomes,and postnatal follow-up were analyzed.Results The size of 1q21.1 microdeletion/microduplication fragments in 15 cases ranged from 806 kb-3.9 Mb,mainly including pathogenic genes such as GJA5,GJA8,CHDIL,PRKAB2 and BCL9.Among the 15 cases,9 fetuses had abnormal ultrasound findings,including 5 cases(30.0%,5/15)with abnormal ultrasound findings at heart sites(ventricular septal defect,aortic stenosis,pulmonary artery reflux,and cardiac hyperechogenicity),2 cases(13.3%,2/15)with abnormal ultrasound findings at kidneys or ureters,and 2 cases(13.3%,2/15)with lateral ventricular widening.Of the 15 cases,9(60.0%,9/15)chose to terminate pregnancy,of which 2(28.6%,2/7)had induced fetal phenotypic abnormalities.6 cases(40.0%,6/15)chose to continue pregnancy,including 2 cases(33.3%,2/6)with abnormal clinical phenotypes in the newborn.Conclusion 1q21.1 microdeletion/microduplication fetuses have a wide range of nonspecific clinical phenotypes,with cardiac structural abnormalities and urinary system abnormalities being the most common,with significant phenotypic differences and incomplete penetrance.Prenatal ultrasound combined with SNP-array detection can help clarify the relationship between the genome and clinical phenotype of 1q21.1 microdeletion/duplication fetuses,and provide theoretical basis for pregnant women's pregnancy selection and prognosis treatment.

关 键 词：1q21.1微缺失/微重复 单核苷酸多态性微阵列 拷贝数变异 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]