摘要
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 explore the value of prenatal genetical diagnosis by using copy number variation analysis based on massively parallel sequencing in prenatal diagnosis of congenital heart disease. Methods： We collected 50 pregnant women whose fetal were diagnosed have CHD in Gansu Provincial Maternity and Child-care Hospital, from January, 2015 to December, 2016. Fetal DNA was extracted from cells in both amniotic fluid and cord blood, and then karyotype and copy number variation （CNV） analysis were also tested. Results： The karyotype analysis detected 4 abnormal cases, three 21 trisomy cases and one chromosome structure abnormalities. CNV detected 9 abnormal cases, three 21 trisomy cases, two 22qll duplication syndrome cases, one 22qll deletion syndrome cases, one partial 9 duplication case, two other micro-deletion/duplication cases. Variants of unknown （or uncertain） significance （VOUS） three cases. Conclusion： CNV analysis can found more complex abnormalities than karyotype analysis. CNV analysis can be used as a complementary technology of traditional chromosome karyotype analysis, it can effectively prevent the risk of fetal CHD, it is very important to prenatal and postnatal care.
出处
《中国优生与遗传杂志》
2017年第6期86-87,34,F0004,共4页
Chinese Journal of Birth Health & Heredity
基金
甘肃省自然科学基金(1606RJZA151
1606RJZA171)
