13号染色体长臂拷贝数异常的产前遗传学分析及妊娠结局随访  

Li Yanqing,Fu Wanyu,Jiang Yuying,et al.Prenatal Diagnosis Center,Quanzhou Women’s and Children’s Hospital,Quanzhou 362000

作　　者：李燕青 傅婉玉 江矞颖 王元白 庄建龙 Li Yanqing;Fu Wanyu;Jiang Yuying(Prenatal Diagnosis Center,Quanzhou Women's and Children's Hospital,Quanzhou,362000)

机构地区：[1]福建省泉州市妇幼保健院儿童医院产前诊断中心,泉州362000

出　　处：《现代妇产科进展》2022年第8期593-596,共4页Progress in Obstetrics and Gynecology

摘　　要：目的:探索13号染色体长臂拷贝数异常胎儿的产前临床表型及遗传学分析。方法:回顾分析2017年7月1日至2021年7月1日在福建省泉州市妇幼保健院产前诊断中心行羊水/脐血染色体核型及单核苷酸多态性微阵列(SNP-array)检测的产前诊断病例,对遗传学诊断确认13号染色体长臂拷贝数异常的胎儿,进一步行遗传学分析、家系分析及随访妊娠结局。结果:共检出8例13号染色体长臂拷贝数异常胎儿,其中3例为致病性变异,均因亲代染色体结构异常导致;5例为临床意义不明变异(VOUS),其中3例遗传自父亲。除例5胎儿产前超声提示胎儿全身水肿、永存左上腔静脉伴多发超声软指标异常外,其余7例胎儿产前超声未见明显结构异常。结论:联合染色体核型分析及SNP-array检测技术可明确13号染色体长臂拷贝数异常的性质及范围,结合亲代验证情况及超声等辅助检查结果,有利于妊娠结局的选择。Objective:To explore the prenatal clinical phenotype and genetic analysis of trisomy fetus with abnormal long-arm copy number on chromosome 13 q.Methods:A retrospective analysis was conducted on the cases of amniotic fluid/cord blood chromosome karyotype and SNP-array detection in prenatal diagnosis center of Quanzhou Maternal and Child Health Hospital from July 1,2017 to July 1,2021.Genetic etiology,pedigree analysis and follow-up of trisomy fetuses confirmed by prenatal diagnosis were analyzed.Results:There were 8 trisomy fetuses with part 13 q,3 of which were pathogenic mutations,all of which were caused by abnormal parental chromosome structure.In VOUS,3 of the 5 cases were inherited from the father.There was systemic edema and persistent left superior vena cava in 1 fetuses with multiple soft ultrasound abnormalities,and no obvious structural abnormalities were found in the other 7 fetuses before delivery.Conclusions:Combined with chromosome karyotype analysis and SNP-array detection technology,the nature and scope of part 13 q trisomy can be determined.Combined with parental verification and assisted examination results such as ultrasound,it is conducive to the selection of pregnancy outcome.

关 键 词：13号染色体长臂拷贝数异常 SNP-array 产前诊断 妊娠结局 

分 类 号：R715.5[医药卫生—妇产科学]