Yield of comparative genomic hybridization microarray in pediatric neurology practice

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Genomic Medicine

Background:

• Array comparative genomic hybridization (aCGH) is a tool for detecting copy number variants (CNVs).
• Identifying the genetic basis of diverse pediatric neurologic disorders is crucial for diagnosis and management.

Purpose of the Study:

• To evaluate the diagnostic yield of aCGH in a large cohort of children with various neurologic conditions.
• To determine if specific neurologic phenotypes are associated with a higher likelihood of detecting pathogenic CNVs.

Main Methods:

• Retrospective analysis of 555 children with suspected genetic etiologies who underwent whole-genome aCGH testing.
• Neurologic phenotyping based on hospital medical records.
• Pathogenicity assessment of identified CNVs using current literature.

Main Results:

• Overall diagnostic yield for pathogenic CNVs was 8.59%.
• Developmental delay, cortical visual impairment, dysmorphism, and microcephaly were significant predictors of pathogenic CNVs.
• Increased clinical features correlated with a higher likelihood of detecting pathogenic CNVs.

Conclusions:

• aCGH is effective in diagnosing genetic causes of diverse pediatric neurologic disorders, with a notable yield of 8.59%.
• Children with developmental delay, dysmorphism, cortical visual impairment, and microcephaly showed increased diagnostic yield.
• While effective, aCGH may be superseded by whole-genome sequencing in the future.