摘要
目的:探讨染色体微阵列分析(CMA)联合核型分析在先天性心脏病(CHD)胎儿产前诊断中的临床应用价值。方法:回顾性分析2019年1月至2020年4月在广西玉林市妇幼保健院优生遗传科行羊水或脐血染色体核型分析及CMA技术检测的110例CHD胎儿的孕妇资料。比较CMA和染色体核型分析检测结果。结果:110例CHD胎儿的孕妇行有创穿刺全部成功,成功率100%,且染色体核型分析和CMA检测也全部得到了结果,成功率100%。在110例胎儿心脏异常的病例中,共检出12例异常核型,检出率为10.91%。CMA共检出异常18例,检出率为16.36%。CMA联合核型分析共检出染色体异常20例,染色体异常检出率为18.18%。但另有2例核型异常CMA漏检正常。单纯类型CHD胎儿组和心内合并心外结构异常胎儿组经CMA技术异常检出率分别为9.72%、31.58%;经核型分析异常检出率分别为2.78%、26.32%。两组技术比较,差异无统计学意义(P>0.05)。结论:对CHD胎儿进行CMA联合G显带核型分析,能显著提高染色体异常检出率,有助于产前诊断遗传咨询中正确评估胎儿的预后,为孕妇是否继续妊娠提供更客观的依据。
Objective:To explore the clinical application value of chromosome microarray analysis(CMA)combined with karyotype analysis in prenatal diagnosis of fetus with congenital heart disease(CHD).Methods:The data of 110 pregnant women with CHD fetus that detected by karyotype analysis of amniotic fluid or cord blood and CMA technique in our hospital from Jan.2019 to Apr.2020 were retrospectively analyzed.The results of CMA and karyotype analysis were compared.Results:Invasive puncture was successfully performed in all the pregnant women with fetal CHD,with a success rate of 100%.Chromosome karyotype analysis and CMA detection were all obtained the results,with a success rate of 100%.Among 110 cases of fetal heart abnormalities,12 cases of abnormal karyotypes were detected,with a detection rate of 10.91%.A total of 18 abnormalities were detected by CMA,with a detection rate of 16.36%.A total of 20 cases of chromosome abnormalities were detected by CMA combined with karyotype analysis,with a detection rate of 18.18%.However,2 cases with abnormal karyotype were detected as normal by CMA.The abnormal detection rates in CHD fetus group and intracardiac combined with extracardiac abnormal fetus group by CMA technique were 9.72%and 31.58%respectively.The abnormal detection rates by karyotype analysis were 2.78%and 26.32%,respectively.There was no significant difference between the two groups(P>0.05).Conclusion:CMA combined with g-banding karyotype analysis of CHD fetus can significantly improve the detection rate of chromosome abnormalities,help to correctly evaluate the prognosis of fetuses in genetic counseling for prenatal diagnosis,and provide more objective evidences for pregnant women to continue pregnancy.
作者
何才通
邓国生
赖玉青
韦俊伊
He Caitong;Deng Guosheng;Lai Yuqing;Wei Junyi(Yulin Maternity and Child Healthcare Hospital,Yulin 537000,China)
出处
《广西医科大学学报》
CAS
2020年第9期1686-1690,共5页
Journal of Guangxi Medical University
基金
广西玉林市科技攻关资助项目(No.玉市科20201619)。
关键词
染色体微阵列分析
G显带核型分析
先天性心脏病
产前诊断
chromosome microarray analysis
g-banding karyotype analysis
congenital heart disease
prenatal diagnosis
