单核苷酸多态性微阵列技术在颅脑异常胎儿产前诊断中的应用

摘要

Objective To apply single nucleotide polymorphism array (SNP-array) in prenatal genetic screening for craniocerebral abnormality.Methods Karyotyping was performed by conventional G banding analysis in 6 fetuses,and genome-wide copy number variations (CNVs) were detected by SNP-array in these fetuses.Results The abnormal karyotypes were detected by G banding analysis in 3 fetuses.And abnormal gene fragments were identified by SNP-array in 4 fetuses,including the microdeletion in Xp22.33p22.2,7q35q36.3 and increased fragments in 18p11.32q23,Yq11.221q11.23,9p24.3p21.1.Conclusion The craniocerebral abnormality of fetuses is associated with CNVs,which can be detected by SNP-array,indicating that SNP-array may be used for prenatal genetic diagnosis.%目的 探讨单核苷酸多态性微阵列(SNP-array)技术在颅脑异常胎儿产前诊断中的价值.方法 采用G显带核型分析6例胎儿染色体核型,应用SNP-array技术检测6例胎儿全基因组拷贝数变异(CNVs),分析芯片检出的所有CNVs.结果 G显带核型分析提示3例胎儿核型异常.SNP-array技术检测出4例胎儿存在基因片段异常,包括Xp22.33p22.2区域、7q35q36.3区域的微缺失和18p11.32q23、Yq11.221q11.23、9p24.3p21.1片段的增加. 结论 胎儿的颅脑异常可能与基因CNVs相关.SNP-array可精确定位胎儿基因异常,为产前遗传学诊断提供依据.