目的　探讨染色体微阵列分析（CMA）在先天性多发畸形新生儿遗传病因学诊断中的应用价值。方法　对 100例多发畸形新生儿进行染色体G-显带核型分析和CMA分析。结果　100例患儿的临床表现以心血管系统畸形合并其 他系统畸形最为多见，占69%。G-显带核型分析显示，21例患儿存在染色体异常，占21%。其中，常染色体数目异常9例， 性染色体数目异常2例，常染色体结构异常10例。染色体核型正常的79例患儿经CMA分析基因拷贝数变异（CNVs）后， 发现7例存在CNVs， 4例为致病性CNVs， 2例为未见明确致病性报道CNVs， 1例为临床意义不明CNVs。结论　CMA具 有分辨率高、覆盖度广的优势，可以从亚微观结构发现染色体缺失和重复，从而对先天性多发性畸形新生儿进行遗传病因 学诊断。

　Objective　To explore the value of chromosome microarray analysis (CMA) in genetic-etiological diagnosis of congenital multiple malformations in neonates. Method　Chromosome G-banding karyotype analysis and CMA analysis were performed in 100 children. Results　The most common clinical manifestations of 100 children were cardiovascular malformation combined with other system deformities, accounting for 69%. G-banding karyotype analysis showed that 21 children (21%) had chromosomal abnormalities, Among whom there were 9 children with numerical abnormality of autosomal chromosomes, 2 with numerical abnormality of sex chromosomes and 10 with structural abnormality of autosomal chromosomes. Gene copy number variations (CNVs) were performed by CMA analysis in 79 children with normal chromosome karyotype. Seven cases were found to have CNVs, including 4 cases of pathogenic CNVs, 2 cases of uncertain CNVs and one case of clinically unknown CNVs. Conclusion　CMA has the advantages of high resolution and wide coverage. It can find the deletion and repetition from the submicrostructures, so as to diagnose the genetic etiology of congenital multiple malformations in neonates.