两种方法检测先天性心脏发育异常胎儿的染色体结果分析  

Analysis of the chromosomal results in fetus with congenital cardiac dysplasia detected by two methods

作　　者：赵丹阳 杨微微[2] 王文靖[2] 鞠明艳 任晨春[2] ZHAO Danyang;YANG Weiwei;WANG Wenjing;JU Mingyan;REN Chenchun(Graduate School,Tianjin Medical University,Tianjin 300070,China;Clinical Lab,Tianjin Central Hospital of Gynecology Obstetrics,Tianjin 300199,China)

机构地区：[1]天津医科大学研究生院,天津300070 [2]天津市中心妇产科医院检验科,天津300199

出　　处：《天津医科大学学报》2024年第1期70-73,共4页Journal of Tianjin Medical University

基　　金：天津市卫生健康委员会科技项目(zc20117)。

摘　　要：目的:探讨拷贝数变异测序(CNV-seq)技术和染色体核型分析技术检测先天性心脏发育异常(CHD)胎儿染色体的应用价值。方法:以2019年2月至2022年8月天津市中心妇产科医院经超声科诊断胎儿CHD的60例孕妇为研究对象,并根据是否伴发心外异常分为独立性CHD组和伴心外结构/软指标异常CHD组,所有孕妇行羊水穿刺进行核型分析及CNV-seq检测,统计分析两种方法对异常染色体的检出率。结果:两种方法检测共发现染色体异常患者20例,异常染色体检出率为33.3%,其中核型分析检出染色体异常例数为13例,CNV-seq检测异常CNVs例数为18例,两种方法结果均异常者11例,核型独立检出平衡易位2例,CNV-seq独立检出微缺失/微重复7例。伴心外结构/软指标异常CHD组染色体异常检出率略高于独立性CHD组,两组间比较差异无统计学意义[37.8%(14/37)vs.26.1%(6/23),χ^(2)=1.76,P>0.05]。结论:联合应用核型分析和CNV-seq检测技术,可以进一步明确诊断由染色体异常引发的胎儿CHD。Objective:To evaluate the value of copy number variation sequencing(CNV-seq)and karyotype analysis in the detection of fetal chromosomes in congenital cardiac dysplasia(CHD).Methods:A total of 60 pregnant women with fetal CHD diagnosed by the ultrasound at Tianjin Central Obstetrics and Gynecology Hospital from February 2019 to August 2022 were selected.They were divided into independent CHD group and CHD group with abnormal cardiac structure/soft indicators according to whether they were accompanied by extra cardiac abnormalities.All pregnant women received amniocentesis and karyotype analysis,at the same time underwent CNV-seq.The detection rate of chromosome abnormality using both methods was analyzed statistically.Results:A total of 20 patients with chromosomal abnormalities were detected by the two methods,and the detection rate of abnormal chromosomes was 33.3%.Among them,13 cases of chromosomal abnormalities were detected by karyotype analysis,and 18 cases of abnormal CNVs were detected by CNV-seq.The results of both methods were abnormal in 11 cases,2 cases of balanced translocation were detected by karyotype,and 7 cases of microdeletion and microduplication were detected by CNV-seq.The chromosome abnormality rate in CHD group with abnormal extra cardiac structures/soft index was slightly higher than that in independent CHD group,and there was no significant difference between the two groups[37.8%(14/37)vs.26.1%(6/23),χ^(2)=1.76,P>0.05].Conclusion:The combination of karyotype analysis and CNV-seq can further confirm the diagnosis of fetal CHD caused by chromosome abnormality.

关 键 词：胎儿先天性心脏病 核型分析 拷贝数变异 二代测序 产前诊断 

分 类 号：R714[医药卫生—妇产科学]