16p13.11微重复胎儿的临床诊断和分子遗传学分析  

Pregnancy outcomes and genetic analysis of prenatal 16p13.11 microduplication fetuses

作　　者：尹建中 郭岩芸 YIN Jianzhong;GUO Yanyun(The Clinical Laboratory of Baoshan People’s Hospital,Baoshan,Yunnan 678000,China;The Longxi Social Health Center,Longgang District People’s Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China)

机构地区：[1]云南省保山市人民医院检验科,云南保山678000 [2]深圳市龙岗区人民医院龙禧社康中心,深圳广东518172

出　　处：《中国优生与遗传杂志》2023年第10期2166-2170,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的 对产前16p13.11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,探索产前该微重复胎儿的临床表型与遗传学的相关性。方法 通过对2017年10月至2023年2月产前SNP-array诊断为16p13.11微重复胎儿的妊娠选择及后续随访进行回顾性分析,分析18例病例拷贝数变异(CNVs)片段最小重复区域及相关基因、超声异常情况、妊娠结局和出生后跟踪随访。结果 18例微重复胎儿的片段大小为790 kb~2.8 Mb之间,均为临床意义不明(VOUS)。18例病例中17例病例最小重叠区域为15.5~16.3Mb,主要包含MARF1、NED1、MYH11、CEP20、ABCC1等基因。7例(38.9%,7/18)有超声表型,以心血管异常为主(71.4%,5/7)。16例进行亲本来源检测,母源遗传7例,父源遗传各4例,新发变异5例。2例(11.1%,2/18)胎儿选择引产;16例(88.9%,16/18)选择继续妊娠,除1例新生儿左耳听力受损,1例新生儿房间隔缺失外,其余随访均无异常。结论 产前16p13.11微重复胎儿超声表型主要为心血管异常。16p13.11微重复无三倍剂量敏感基因,胎儿妊娠结局良好,但成年后易表现神经易感性表型。当SNP-array诊断为16p13.11微重复时,应分析其基因与临床表型相关性,指导孕妇科学妊娠。Objective To analyze the ultrasound manifestations,single nucleotide polymorphism array(SNP array)results,pregnancy outcomes,and follow-up of 16p13.11 duplication fetuses,and explore the correlation between the genotype and clinical phenotype of 16p13.11 duplication syndrome.Methods A retrospective analysis was conducted on the pregnancy selection and follow-up of fetuses diagnosed with 16p13.11 microduplication by prenatal SNP-array from October 2017 to February 2023.Analyze the minimum repeat region and related genes of copy number variations(CNVs)fragments in 18 cases,ultrasound abnormalities,pregnancy outcomes,and postnatal follow-up.Results 18 cases were microduplication with fragment sizes ranging from 790 kb to 2.8 Mb,all of which were variants of uncertain significance(VOUS).Among the 18 cases,17 had a minimum overlap region of 15.5 to 16.3 Mb,mainly containing genes such as MARF1,NED1,MYH11,CEP20,and ABCC1.7 cases(38.9%,7/18)had ultrasound phenotype,with cardiovascular abnormalities being the main cause(71.4%,5/7).Sixteen cases were tested for parental origin,including 7 cases of maternal inheritance,4 cases of paternal inheritance,and 5 cases of new mutations.Two fetuses(11.1%,2/18)chose induced abortion,Fifteen cases(88.9%,16/18)chose to continue pregnancy.Except one newborn with hearing loss in the right ear and one newborn with interventricular septum loss,the rest of the follow-up were normal.Conclusion The ultrasound manifestations of 16p13.11 microduplication in fetuses are mainly cardiovascular abnormalities.16p13.11 microduplication without triplosensitivity,defined as VOUS,results in good fetal pregnancy outcomes.When SNP-array is diagnosed with 16p13.11 microduplication,genomics analysis should be performed to clarify the correlation between genes and clinical phenotypes,guiding pregnant women in scientific pregnancy.

关 键 词：16p13.11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：R714.55[医药卫生—妇产科学]