摘要
目的:探讨高通量测序(CNV-seq)与染色体微阵列分析(CMA)在早期自然流产遗传学诊断中的应用价值。方法:选取2016年1月至2019年11月在山东大学齐鲁医院就诊的308例早期自然流产孕妇,取其绒毛组织,提取DNA。155例样本行CMA检测,153例样本行CNV-seq检测。结果:CMA组检测失败率(10.32%)显著高于CNV-seq组(0%),差异有统计学意义(P<0.05)。CNV-seq组对染色体异常核型的阳性检出率为53.59%,与CMA组(56.83%)相比,差异无统计学意义(P>0.05)。CNV-seq对染色体拷贝数变异(CNVs)的检出率为10.46%,显著高于CMA组(4.32%)(P<0.05)。结论:CNV-seq对早期流产组织的染色体异常核型的阳性检出率与CMA相当,但对样本质量和浓度的要求明显较低,且在CNVs的检出率上有明显优势。表明CNV-seq在临床查找早孕期自然流产病因方面有更好的应用前景。
Objective:To explore the application value of copy number variation sequencing(CNV-seq)and chromosome microarray analysis(CMA)in genetic analysis of early miscarriage.Methods:From January 2016 to November 2019,308 pregnant women with early abortion in Qilu Hospital of Shandong University were enrolled in our study.The DNA of abortion tissue was extracted,and 155 samples were analyzed by CMA,153 samples were detected by CNV-seq.Results:139 cases were analyzed successfully by CMA,the detection failure rate was 10.32%.153 cases were all analyzed successfully by CNV-seq.The difference was statistically significant.The detection rate of chromosomal abnormalities by CNV-seq was 53.59%,and it was 56.83%by CMA.There was no significant difference between CNV-seq and CMA.The detection rate of CNV-seq for copy number variants(CNVs)was 10.46%,which was higher than that of CMA(4.32%),and the difference was statistically significant.Conclusion:CNV-seq is comparable to CMA in detecting abnormal chromosome for early abortion,but the requirements for quality and concentration of samples are significantly lower,and the detection rate of CNVs is superior obviously.CNV-seq is a better technology for genetic diagnosis of early abortion in clinical practice.
作者
宋珍
王玉
张丽华
李娜
杨瑞芳
孙平
Song Zhen;Wang Yu;Zhang Lihua(Perinatal Centre for Obstetrics and Gynaecology,Qilu Hospital of Shandong University,Jinan 250000)
出处
《现代妇产科进展》
CSCD
北大核心
2020年第10期756-759,共4页
Progress in Obstetrics and Gynecology
关键词
高通量测序
染色体微阵列分析
早期流产
Copy number variation sequencing
Chromosome microarray analysis
Early abortion
