应用单核苷酸多态性微阵列芯片分析胎儿圆锥动脉干畸形基因组拷贝数的变异

Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array

目的探讨单核苷酸多态性微阵列（single nucleotide polymorphismarray，SNP array）技术对超声心动图检查提示为圆锥动脉干畸形（conotruncal defects，CTD）的胎儿进行遗传学诊断的价值。方法收集75例超声心动图检查提示为CTD，而染色体核型分析结果未见明显异常的胎儿，采用SNParray技术进行全基因组拷贝数变异（copy number variation，CNV）检测，用ChAS等软件进行生物信息学分析。结果75例CTD胎儿中致病性CNV的检出率为9．3％（7／75），临床意义不明确的拷贝数变异检出率为2．7％（2／75），良性CNV的检出率为25．3%（19／75）。结论SNParray技术可以显著提高CTD遗传学病因的检出率，对于常规染色体核型分析未见异常的CTD患者，建议进一步行SNParray分析。SNParray在CTD胎儿的遗传病因学诊断中具有较高的临床应用价值。

Objective To assess the value of single nucleotide polymorphism array （SNP array） for the study of fetuses with conotruncal defects （CTD） detected by echocardiography. Methods SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software. Results Pathogenic CNVs were detected in 7 （9.3%） of all cases. Variant of uncertain significance （VOUS） was detected in 2 （2. 7%） cases. Benign CNVs were detected in 19 （25.3%） cases. Conclusion SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.