单卵双胎之一发育异常病例的染色体及拷贝数变异的产前诊断分析  

Prenatal diagnostic analysis of chromosome and copy number variation in one of the monozygotic twins with abnormal development

作　　者：潘敏 李发涛 韩瑾 景象一 易翠兴 李东至 廖灿 PAN Min;LI Fatao;HAN Jin;JING Xiangyi;YI Cuixing;LI Dongzhi;LIAO Can(Prenatal Diagnostic Center,Guangzhou Medical University Affiliated Women and Children's Medical Center,Guangdong Province,Guangzhou 510623,China)

机构地区：[1]广州医科大学附属妇女儿童医疗中心产前诊断中心,广东广州510623

出　　处：《中国当代医药》2024年第8期13-17,共5页China Modern Medicine

基　　金：广东省广州市科技计划项目(2023A03J0874);广州医科大学科研能力提升计划项目(02-410-2302142XM)。

摘　　要：目的通过分析单卵双胎之一发育异常病例的染色体核型及基因拷贝数变异的产前诊断结果,探讨导致单卵双胎之一发育异常的遗传学病因。方法选取2013—2021年因双胎之一发育异常在广州医科大学附属妇女儿童医疗中心进行介入性产前诊断的单卵双胎病例作为研究对象,进行染色体核型和染色体微阵列分析(CMA)检查及随访,分析单卵双胎病例的染色体检查结果及临床结局。结果共有50对(100例)单卵双胎被纳入研究。双胎之一发育异常包括颈项透明层(NT)增厚、心脏结构异常、双胎之一宫内生长受限(FGR)、唇腭裂和多发畸形等。胎儿染色体产前诊断结果异常为3对(6例),异常率为6.0%,不一致率为2.0%。结论单卵双胎之一发育异常病例中,病因为染色体或基因异常所占概率较低,双胎遗传物质不一致率非常低。染色体及基因拷贝数异常不是导致双胎表型相异的主要原因。Objective By analyzing the prenatal diagnostic results of chromosome karyotype and gene copy number variation in one of the monozygotic twins,the genetic causes of the abnormal development of one of the monozygotic twins were discussed.Methods The cases of monozygotic twins who received interventional prenatal diagnosis in Guangzhou Medical University Affiliated Women and Children's Medical Center from 2013 to 2021 due to abnormal development of one of the twins were selected as research objects,and the chromosomal karyotype and chromosome microarray analysis(CMA)were performed and followed up.Results A total of 50 pairs(100 cases)of monozygotic twins were included in the study.Developmental abnormalities in one of the twins included thickening of the nuchal transluncecy(NT),abnormal cardiac structure,fetal growth restrict(FGR),cleft lip and palate,and multiple malformations.There were 3 pairs(6 cases)of abnormal fetal chromosomes in prenatal diagnosis,the abnormal rate was 6.0%and the inconsistent rate was 2.0%.Conclusion In the cases of abnormal development of one of the monozygotic twins,the probability of the disease due to chromosome or gene abnormality is low,and the genetic material inconsistency rate of the twins is very low.Chromosome and gene copy number variation are not the main causes of phenotypic differences in twins.

关 键 词：单卵双胎 发育异常 拷贝数变异 染色体核型 

分 类 号：R714.5[医药卫生—妇产科学]