单绒毛膜双羊膜囊双胎心脏畸形拷贝数变异分布的差异(英文)  

Copy Number Variations in Monochorionic Diamniotic Twins with Discordant and Concordant Congenital Heart Diseases in Prenatal Cohort

作　　者：彭软[1] 谢红宁[1] 林美芳[1] 郑菊[1] PENG Ruan;XIE Hong-Ning;LIN Mei-Fang;ZHENG Ju(Department of Ultrasound,The First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院超声科,广东广州510080

出　　处：《中山大学学报（医学版）》2018年第4期573-580,共8页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金青年科学基金(81501491)

摘　　要：【目的】分析拷贝数变异在单绒毛膜双羊膜囊双胎(MCDA)合并先天性心脏病病例中分布的差异。【方法】MCDA双胎合并先心病病例接受胎儿染色体核型检查和染色体微阵列检测,采用Affymetrix Cyto Scan高分辨微阵列平台。【结果】从2010年至2016年,114例MCDA双胎合并心脏畸形且类型不一致,4例合并心脏畸形且类型一致。114例MCDA双胎合并心脏畸形且类型不一致病例中,72例接受胎儿染色体核型检查。胎儿染色体核型检测结果如下:5例双胎核型不一致,1例双胎均是47,XYY,1例双胎均是21三体,65例双胎染色体核型均正常。36例MCDA双胎合并心脏畸形类型不一致且染色体核型、22q11.2微缺失检测均正常病例中,拷贝数变异不一致比率是5.6%。所有先心病中致病性拷贝数变异和临床意义未明拷贝数变异的检出率分别是2.2%和2.2%。4例MCDA双胎合并心脏畸形类型一致病例中,1例未行胎儿染色体核型检查,其余3例染色体核型和染色体微阵列检测结果均正常。【结论】合子后的拷贝数变异可解释5%MCDA双胎合并心脏畸形类型不一致的发生原因。【Objective】To investigate the distribution of copy number variations（CNV）in monochorionic diamniotic（MCDA）twins with discordant and concordant congenital heart diseases（CHD）.【Methods】MCDA twins with CHD were analyzed with conventional fetal karyotyping and chromosomal microarray analysis（CMA）,which was performed with Affymetrix Cyto Scan HD array.【Results】Between 2010 and 2016,114 MCDA twins with discordant CHD and four with concordant CHD were identified. Among the 114 MCDA twins with discordant CHD,fetal karyotyping was performed in 72 cases. The findings of fetal karyotyping were as follows：five with discordant chromosomal anomalies,one with concordant 47,XYY,one with trisomy 21 and 65 with accordant normal karyotype. In the 36 cases with discordant CHD,normal karyotype and normal FISH results for Di George region,the prevalence of discrepant CNV was 5.6%. Uncertain of clinical significance CNV and pathogenic CNV occurred in 2.2%（1/45）and in 2.2%（1/45）fetuses with CHD. With regard to the four cases with concordant CHD,fetal karyotype was not performed in one. Normal karyotype and normal CMA results were confirmed in the remaining three cases.【Conclusions】Post-zygotic CNV events in MCDA twins may be associated with about 5% twin discordant for CHD in the investigated cases.

关 键 词：拷贝数变异 单绒毛膜双羊膜囊双胎 不一致 先天性心脏病 

分 类 号：R71[医药卫生—妇产科学]