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

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。

Application of single nucleotide polymorphism array in prenatal diagnosis of craniocerebral abnormality

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.