单绒毛膜双胎遗传物质不一致的临床分析  

Clinical analysis of monochorionic-diamniotic twins with genetic discordance

作　　者：汤璐[1] 潘平山[1] 孙惟佳[2] 覃洁 覃嘉怡 覃钰芹 黄朋[2] 韦红卫[1] Tang Lu;Pan Pingshan;Sun Weijia;Qin Jie;Qin Jiayi;Qin Yuqin;Huang Peng;Wei Hongwei(Department of Obstetrics,Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530003,China;Department of Genetic Metabolism,Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530003,China)

机构地区：[1]广西壮族自治区妇幼保健院产科,南宁530003 [2]广西壮族自治区妇幼保健院遗传代谢实验室,南宁530003

出　　处：《中华医学遗传学杂志》2023年第5期538-542,共5页Chinese Journal of Medical Genetics

基　　金：广西壮族自治区科技基地和人才专项(桂AD17129016);广西壮族自治区卫生和计划生育委员会自筹课题(Z20170774)。

摘　　要：目的探讨5例遗传物质不一致的单绒毛膜双羊膜囊(MCDA)双胎的遗传学病因。方法选取2016年1月至2020年6月于广西壮族自治区妇幼保健院产科进行双胎羊膜腔穿刺产前诊断的148例MCDA双胎为研究对象。收集孕妇的临床资料, 分别采集双胎的羊水样本进行染色体核型分析及单核苷酸多态性微阵列(SNP array)检测。结果染色体核型分析显示, 148例MCDA双胎中有5例染色体核型不一致, 发生率为3.4%(5/148)。SNP array检测显示其中3例胎儿为嵌合体。结论 MCDA双胎存在遗传物质不一致的现象, 其产前诊断需具有丰富经验的医学遗传学和胎儿医学专家共同完成, 临床处理应该遵循个体化原则。Objective To explore the genetic etiology of 5 cases of monochorionic-diamniotic(MCDA)with genetic discordance.Methods 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects.Relevant clinical data of the pregnant women were collected,and amniotic fluid samples of the twins were collected separately.Chromosomal karyotyping analysis and single nucleotide polymorphism array(SNP array)assay were carried out.Results The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes,with an incidence of 3.4%(5/148).SNP array assay showed that 3 fetuses were mosaics.Conclusion Genetic discordance occurs among MCDA twins,and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine,and personalized clinical management should be recommended.

关 键 词：单绒毛膜双羊膜囊 双胎 不一致 

分 类 号：R714.5[医药卫生—妇产科学]