摘要
目的对1例膈疝伴室间隔缺损引产胎儿的病因进行探讨及追溯。方法通过产前超声检查、染色体核型G显带技术及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)检测对胎儿及其家系成员进行研究。结果孕妇2次不良孕史产前超声检查均表现为胎儿膈疝、室间隔缺损,2次羊水染色体核型均为47,XN,+der(22?),本次羊水SNP-Array显示胎儿染色体1lq23.3q25和22q11.1q11.21及7p12.1区段存在片段重复,孕妇外周血染色体核型为46,XX,t(11:22)(q23:q11),结合超声检查报告及遗传学检测结果,本次引产胎儿确诊为Emanuel综合征。结论胎儿染色体异常是来自其母亲染色体平衡易位引起的不平衡重排导致的Emanuel综合征。
Objective A case of diaphragmatic hernia with ventricular septal defect was induced to give birth.Methods The fetus and its family members were studied by prenatal ultrasound examination,gbanding technique of chromosome karyotype and detection of single nucleotide polymorphic microarray(SNP-array).Results Prenatal ultrasound examination of pregnant women with two adverse pregnancy history showed diaphragmatic hernia and ventricular septal defect of the fetus,and chromosome karyotypes of amniotic fluid were 47,XN,+der(22?).In this study,the amniotic fluid snp-array showed the duplication of fragments in fetal chromosome 1 lq23.3 q25 and 22 q11.1 q11.21 and 7 p12.1,and the chromosome karyotype in peripheral blood of pregnant women was 46,XX,t(11:22)(q23:q11).Combining with the ultrasonic examination report and genetic test results,the fetus induced labor was diagnosed as Emanuel syndrome.Conclusion Fetal chromosomal abnormalities are caused by Emanuel syndrome caused by unbalanced rearrangement caused by balanced translocation of maternal chromosomes.
作者
李燕青
傅婉玉
刘夏莹
谢俊杰
王元白
江矞颖
LI Yanqing;FU Wanyu;LIU Xiaying;XIE Junjie;WANG Yuanbai;JIANG Yuying(Prenatal diagnosis centre,Quanzhou Women's and Children's Hospital,Quanzhou 362000,Fujian Province,China;Department of orthopedics,Quanzhou First Hospital Afiliated Fujian Medical University,Quanzhou 362000,Fujian,China)
出处
《中国产前诊断杂志（电子版）》
2021年第3期44-48,共5页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
膈疝
Emanuel综合征
染色体核型分析
单核苷酸多态微阵列芯片
Diaphragmatic hernia
Emanuel syndrome
Analysis of chromosome karyotype
Singlenucleotide polymorphic microarray chips
