Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual...

Area of Science:

• Genetics
• Medical Diagnostics

Background:

• Chromosomal microarray (CMA) is a primary genetic test for developmental delay, autism, and congenital anomalies.
• CMA enhances diagnostic yield in identifying causes of developmental delay or intellectual disability.
• CMA is not yet standard clinical practice in some regions, such as Korea.

Purpose of the Study:

• To evaluate the diagnostic utility and clinical value of CMA testing in a Korean cohort.
• To assess the effectiveness of CMA in diagnosing developmental delay or intellectual disability.

Main Methods:

• Genome-wide microarray analysis was performed on 649 patients with developmental delay or intellectual disability.
• Retrospective review of medical records and pathogenicity evaluation of copy number variations (CNVs) using existing literature and parental testing (FISH, qPCR).

Main Results:

• Pathogenic CNVs were identified in 110 patients, with a diagnostic yield of 16.9%.
• De novo CNVs were found in 86.4% of cases with parental testing.
• Rare deletions were identified and verified in specific chromosomal regions.

Conclusions:

• CMA testing demonstrates significant clinical utility for genetic diagnosis in patients with developmental delay or intellectual disability.
• CMA should be integrated into clinical diagnostic protocols for children with developmental delay or intellectual disability.