高通量测序技术在儿童生长发育异常中的应用探讨

Application of high-throughput sequencing in children with abnormal growth and development

目的探讨高通量测序技术在儿童生长发育异常中的应用价值。方法对2016年9月至2018年12月在我院就诊生长发育疾病的56例儿童同时进行染色体核型分析和高通量测序技术检测染色体拷贝数变异,比较两者的阳性率。结果染色体核型异常检出6例,阳性率为10.71%(6/56);高通量测序技术检出34人染色体有微重复或微缺失,阳性率为60.71%(34/56)。利用卡方检验进行分析处理,结果显示高通量测序技术阳性率明显高于染色体核型分析,差异有统计学意义(χ2=30.489,P=0.000<0.05)。结论高通量测序技术可以提高染色体异常的检出率,两种方法联合应用可以明显提高儿童生长发育异常的病因诊断。

Objective:To investigate the application value of high-throughput sequencing technology in children with growth and development abnormalities.Methods:Chromosome karyotype analysis and high-throughput sequencing technique were performed simultaneously to detect in 56 patients with growth and development diseases in the hospital from September 2016 to December 2018,and the positive rates of the two were compared by the chi-square test.Results:Chromosome karyotype abnormalities were detected in 6 cases,and the positive rate was 10.71%;High-throughput sequencing technique detected 34 cases of chromosome microdeletions or micro-repetition,and the positive rate was 60.71%.The results showed that the detection rate of high-throughput sequencing technique was significantly higher than chromosome karyotype analysis,and the difference was statistically significant(χ2=30.489,P<0.05)according to the result of chi-square test.Conclusion:High throughput sequencing technique can improve the detection rate of chromosomal abnormalities,and the two combined methods could obviously improve the etiological diagnosis of growth and development abnormalities.