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目的探讨高通量测序的染色体组拷贝数变异(Copy number variation,CNV)分析技术在先天性心脏病产前诊断中的应用价值。方法以2015年1月至2016年12月经本院产前诊断中心确诊存在胎儿CHD的孕妇为研究对象,进行产前染色体核型分析与高通量测序技术CNV检测。结果核型分析检出异常核型4例,异常检出率为8.16%,其中21三体3例,染色体结构异常1例;CNV检出异常9例,异常检出率为18%,其中21三体3例,22q11微重复综合征2例,22q11微缺失综合征1例,9号染色体部分重复1例,其他微缺失/微重复2例;临床意义不明CNV变异3例。结论 CNV检测可以比核型分析发现更加复杂的异常,可以作为传统染色体核型分析技术的补充方法,可有效预防CHD胎儿的风险,对优生优育有重要意义。
Objective To investigate the value of high-throughput sequencing of copy number variation (CNV) in prenatal diagnosis of congenital heart disease. Methods From January 2015 to December 2016, pregnant women diagnosed with prenatal CHD by prenatal diagnosis center of our hospital were studied. Prenatal chromosome karyotype analysis and high-throughput sequencing CNV detection were performed. Results There were 4 abnormal karyotypes detected in karyotype analysis. The detection rate was 8.16%. Among them, 21 cases were trisomy 21 and 1 cases were chromosomal abnormalities. 9 cases were abnormal in CNV detection and 18 cases were abnormal, of which 21 cases were abnormal 3 cases of trisomy, 2 cases of 22q11 microreplication syndrome, 1 case of 22q11 microdeletion syndrome, 1 case of chromosome 9 partial recurrence, and 2 cases of other microdeletions / micrometraations. There were 3 cases with unknown clinical significance of CNV. Conclusion CNV detection can find more complicated abnormalities than karyotyping, which can be used as a complementary method to traditional karyotype analysis, which can effectively prevent fetal risk of CHD and is of great significance to prenatal and postnatal care.