胎儿圆锥动脉干畸形与染色体异常及临床结局的关系  

Relationship between chromosomal abnormalities and clinical outcomes in fetuses with conus arteriosus defects

作　　者：傅丹 张素华 沈德娟 居云 吴丽娟 FU Dan;ZHANG Suhua;SHEN Dejuan;JU Yun;WU Lijuan(Department of Prenatal Diagnosis Center,North Jiangsu People's Hospital,Yangzhou 225001,China;不详)

机构地区：[1]苏北人民医院产前诊断中心,扬州225001 [2]苏北人民医院超声影像科,扬州225001

出　　处：《浙江医学》2022年第22期2364-2368,F0003,共6页Zhejiang Medical Journal

基　　金：江苏省妇幼健康科研项目(F201944)。

摘　　要：目的探讨圆锥动脉干畸形(CTD)胎儿的产前诊断结果和临床结局,分析CTD与染色体异常的关系。方法选取2012年1月至2021年12月在苏北人民医院经产前胎儿畸形筛查确诊胎儿CTD并进行胎儿染色体检查的136例孕妇(均为单胎妊娠)为研究对象,结合CTD胎儿的产前诊断结果和临床结局,采用染色体G显带核型分析和染色体低深度全基因组高通量测序分析CTD与染色体异常的关系。结果136例CTD胎儿中检出染色体异常27例,检出率为19.85%,其中染色体数目异常13例,致病性拷贝数变异(CNV)14例;永存动脉干胎儿的染色体异常检出率最高,完全性大动脉转位胎儿的染色体异常检出率最低;合并心外畸形、同时合并心内、心外畸形胎儿的染色体异常率较高,单纯组胎儿的染色体异常率最低。结论CTD胎儿的染色体异常检出率较高,同时合并心内、心外畸形的胎儿更易伴有染色体异常。产前检查中若发现胎儿患有CTD或超声心动图检查提示CTD胎儿合并多器官异常时,应行介入性产前诊断排除染色体异常。Objective To investigate the relationship between chromosomal abnormalities and clinical outcomes in fetuses with conotruncal defects(CTD).Methods A total of 136 singleton pregnant women whose fetuses were diagnosed as CTD by prenatal malformation screening and underwent fetal chromosome examination in North Jiangsu People’s Hospital from January 2012 to December 2021 were enrolled.The relationship between clinical outcomes and chromosomal abnormalities was analyzed.Results Among the 136 CTD fetuses,27 cases were detected with chromosomal abnormalities,with a detection rate of 19.85%,including 13 cases of abnormal chromosome numbers and 14 cases of pathogenic copy number variation(CNV).The chromosomal abnormality rate of the fetuses with persistent arterial trunk was the highest,and that with complete transposition of the great arteries was the lowest.The chromosomal abnormality rate of fetuses with extracardiac malformation and intracardiac extracardiac malformation was highest,and the chromosomal abnormality rate of the fetuses in the simple group was the lowest.Conclusion The chromosomal abnormalities rate in fetuses with CTD is higher,and fetuses with intracardiac and extracardiac malformations are more likely to have chromosomal abnormalities.Therefore,if prenatal examination suggests CTD with multiple organ abnormalities,the interventional prenatal diagnosis is necessary to exclude chromosomal abnormalities.

关 键 词：圆锥动脉干畸形 产前诊断 临床结局 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]