微阵列比较基因组杂交检测在新生儿染色体异常疾病筛查中的应用

The application of array comparative genomic hybridization for the detection of chromosomal defects in newborns

目的 探讨微阵列比较基因组杂交（Array-CGH）在新生儿染色体异常疾病诊断中的意义.方法 选择我院新生儿病房2014年1 ～ 12月临床诊断不明、怀疑染色体疾病的患儿,采用Array-CGH技术对患儿进行全基因组扫描分析,并用荧光原位杂交（FISH）检查对检出的基因组不平衡异位进行验证.结果 共纳入514例新生儿,发现染色体异常改变104例,异常检出率20.2％.其中最常见为唐氏综合征24例,其次为小胖威利/天使人综合征17例,Wolf-Hirschhom综合征5例,威廉斯综合征5例,猫叫综合征5例.FISH检测结果与Array-CGH相符.结论 通过Array-CGH技术对不明疾病原因的患儿进行全基因组扫描,部分患儿可明确病因诊断.该技术作为一种高通量、快速的疾病研究手段,在染色体疾病筛查诊断中具有重要的临床意义.

Objective To study the application of the array comparative genomic hybridization （Array-CGH） for the detection of chromosomal disorders in newborns.Method The Array-CGH technique was used to analyze the whole genome of the patients who were suspected of chromosomal disease in neonatal ward of our hospital from January to December in 2014,and further verification in genomic unbalanced ectopia was carried out by FISH （fluorescence in situ hybridization,FISH）.Result Among 514 patients,104 were found carrying chromosomal abnormalities with a detection rate of 20.2％.The most common chromosomal disease is the Down syndrome syndrome （24 cases）,followed by the chubby Willy and Angel syndrome（17 cases）,while the Wolf-Hirschhorn syndrome in 5 cases,Williams syndrome in 5 cases and the Criduchat syndrone in 5 cases.The results of FISH were consistent with Array-CGH.Conclusion The technique of Array-CGH can be used to scan the whole genome of children with unknown disease.As a high-throughput and rapid research method,this technique has important clinical significance in the screening of chromosomal diseases.