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

VernacularTitle: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
Author: Min JIANG ; Yan ZHONG ; Yujie QI ; Yajuan WANG ; Caiyun YANG
Keywords: Chromosome disorders; Microarray analysis; Genetic testing; Infant,newborn
From:Chinese Journal of Neonatology 2017;32(2):119-122
CountryChina
Language:Chinese
Abstract: 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.