摘要
目的联合单核苷酸多态性微阵列(SNP-array)与染色体核型分析技术探索产前诊断中额外小标记染色体(sSMC)的来源并分析其致病性。方法回顾性分析2017年1月至2020年3月于泉州市妇幼保健院/儿童医院产前诊断中心行羊水穿刺的孕妇5766例,对羊水染色体核型分析结果显示为sSMC的标本进一步行SNP-array检测sSMC的来源并分析其致病性。结果染色体核型分析共检出7例sSMC,其中3例为嵌合型,1例伴有18-三体综合征。进一步通过SNP-array检测4例sSMC的来源,其中2例为性染色体来源,2例未发现拷贝数变异。结论将分子遗传学与细胞遗传学方法相结合对明确sSMC的来源及致病性有重要意义,可为产前遗传咨询及妊娠结局评估提供参考。
Objective Combine single nucleotide polymorphism microarray(SNP-array)and chromosome karyotype analysis technology to explore the source and pathogenicity of small supernumerary marker chromosome(sSMC)in prenatal diagnosis.Methods A total of 5766 pregnant women carried out amniocentesis in the Prenatal Diagnosis Center of Quanzhou Women's and Children's Hospital from January 2017 to March 2020 were retrospectively analyzed.SNP-array was further used to detect the source of sSMC and analyze its pathogenicity in the subjects whose chromosome karyotype analysis of amniotic fluid showed sSMC.Results Chromosome karyotype analysis revealed 7 cases of sSMC,included 3 cases of chimeric type and 1 case combined with trisomy 18 syndrome.SNP-array was used to analyze the source of sSMC in 4 cases,of which 2 cases were sex chromosome origin and 2 cases without any of copy number variants.Conclusion The combination of molecular genetics and cytogenetics is of great significance in determining the origin and pathogenicity of sSMC,and could provide reference for prenatal genetic counseling and pregnancy outcome evaluation.
作者
李燕青
傅婉玉
王元白
江矞颖
苏景明
庄建龙
LI Yanqing;FU Wanyu;WANG Yuanbai;JIANG Yuying;SU Jingming;ZHUANG Jianlong(Prenatal Diagnosis Center,Quanzhou Women's and Children's Hospital,Quanzhou,Fujian 362000,China)
出处
《检验医学与临床》
CAS
2022年第9期1185-1187,1192,共4页
Laboratory Medicine and Clinic
基金
福建省卫生健康委员会青年科技计划项目(2020QNB045)。
关键词
额外小标记染色体
产前诊断
遗传咨询
单核苷酸多态性微阵列
small supernumerary marker chromosome
prenatal diagnosis
genetic counseling
single nucleotide polymorphism microarray
