[MS9-4A-4] Role of Array CGH Analysis in Developmental Delay: A Diagnostic Tool for Pediatric Neurologists
[Background]Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Array Comparative Genomic Hybridization (array CGH) has emerged as a tool to detect genetic copy number changes and is the most sensitive test in providing etiological diagnosis in developmental delay. The aim of the study was to determine the optimal quality and clinical sensitivity of array comparative genomic hybridization in children with global developmental delay.
[Method] From 2013 to 2016, array CGH application was successfully implemented in a cohort of 53 children with the clinical diagnosis of global developmental delay and/or accompanying dysmorphic features and/or congenital malformations. We collected the basic data, clinical manifestation and the results of karyotypes of chromosome and array CGH.
[Results] We have identified 17 copy number variants (CNVs), receiving an overall diagnostic yield of 32.0%. Known pathogenic changes were identified in 47.0% of the cases. Among patients with pathogenic CNVs, 94.1% had a previously normal karyotype analysis.
[Conclusion] From our data, array CGH can be applied successfully in children with global developmental delay as the method detects a significant number of pathogenic changes, and more anomalies than G banding, resulting in early diagnosis and subsequently more precision therapy. Our studies found array CGH not only helps limit further investigations but also has led to the delineation of novel genetic syndromes associated with developmental delay. Our studies demonstrate the usefulness of array CGH as a first-tier clinical setting test in children with global developmental delay.
[Method] From 2013 to 2016, array CGH application was successfully implemented in a cohort of 53 children with the clinical diagnosis of global developmental delay and/or accompanying dysmorphic features and/or congenital malformations. We collected the basic data, clinical manifestation and the results of karyotypes of chromosome and array CGH.
[Results] We have identified 17 copy number variants (CNVs), receiving an overall diagnostic yield of 32.0%. Known pathogenic changes were identified in 47.0% of the cases. Among patients with pathogenic CNVs, 94.1% had a previously normal karyotype analysis.
[Conclusion] From our data, array CGH can be applied successfully in children with global developmental delay as the method detects a significant number of pathogenic changes, and more anomalies than G banding, resulting in early diagnosis and subsequently more precision therapy. Our studies found array CGH not only helps limit further investigations but also has led to the delineation of novel genetic syndromes associated with developmental delay. Our studies demonstrate the usefulness of array CGH as a first-tier clinical setting test in children with global developmental delay.