胎儿心脏结构异常与羊水染色体非整倍体及拷贝数变异的相关性  

Association of fetal cardiac structural abnormalities and chromosomal aneuploidies and copy number variations

作　　者：侯瑞杰[1] 孔凡静 赵淑珍[3] 郭会敏[1] 王世进[1] Hou Ruijie;Kong Fanjing;Zhao Shuzhen;Guo Huimin;Wang Shijin(Department of Gynecology,the First Affiliated Hospital of Xinxiang Medical College,Xinxiang,Henan 453100,China;Department of Obstetrics,Henan People's Hospital,Zhengzhou,Henan 450003,China;Department of Obstetrics,the First Affiliated Hospital of Xinxiang Medical College,Xinxiang,Henan 453100,China)

机构地区：[1]新乡医学院第一附属医院妇科,453100 [2]河南省人民医院产科,郑州450003 [3]新乡医学院第一附属医院产科,453100

出　　处：《中华医学遗传学杂志》2021年第8期795-797,共3页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关计划(2018020347)。

摘　　要：目的探讨胎儿心脏结构异常与羊水染色体非整倍体及拷贝数变异(copy number variation,CNV)的相关性。方法对328例孕妇进行胎儿超声检查及染色体微阵列分析(chromosomal microarray analysis,CMA),根据胎儿的心脏结构将其分为正常组(n=273)与异常组(n=55),比较两组染色体非整倍体和CNV的检出情况,采用Spearman法分析二者与胎儿心脏结构异常的相关性。结果异常组染色体非整倍体和CNV的检出率显著高于正常组(P<0.05);胎儿心脏结构异常的发生率与染色体非整倍体及CNV明显相关(P<0.05)。结论胎儿染色体非整倍体及CNV与心脏结构异常存在明显的相关性。Objective To investigate the association of fetal cardiac structural abnormalities with chromosomal aneuploidies and copy number variations(CNVs)in amniocytes.Methods 328 pregnant women were subjected to fetal ultrasonography and chromosomal microarray analysis(CMA).Based on the fetal heart structure,the subjects were divided into normal(n=273)and abnormal groups(n=55).The detection rates of chromosomal aneuploidies and CNVs were compared between the two groups.Spearman method was used to assess the association between the results and fetal cardiac structural abnormalities.Results The detection rates for chromosomal aneuploidies and CNVs in the abnormal group were significantly higher than that in the normal group(P<0.05),and the incidence of fetal cardiac structural abnormalities was strongly associated with chromosomal aneuploidies and CNVs(P<0.05).Conclusion Fetal chromosomal aneuploidies and CNVs are strongly associated with cardiac structural abnormalities.

关 键 词：染色体微阵列分析 胎儿心脏结构异常 染色体非整倍体 拷贝数变异 相关性 

分 类 号：R714.5[医药卫生—妇产科学]