Summary
This meta-analysis and consensus statement evaluated the diagnostic performance of exome sequencing versus chromosomal microarray for individuals with neurodevelopmental disorders (global developmental delay, intellectual disability, autism spectrum disorder). The authors identified 30 studies and found ES yield substantially exceeded CMA (36% overall versus 15-20%), leading to a consensus recommendation placing ES as a first-tier diagnostic test rather than a downstream investigation.
Regional applicability
This is an international consensus statement with no specific geographic restriction. The findings are applicable to United Kingdom clinical genetics services and paediatric neurology practice, as NHS diagnostic algorithms for NDDs would benefit from evidence-based tier ordering. However, implementation depends on UK-specific service capacity, funding, and NICE guidance adoption.
Key measures
Molecular diagnostic yield (percentage of individuals with identified genetic diagnosis); stratified by NDD type (isolated versus NDD plus associated conditions)
Outcomes reported
The study compared diagnostic yield of exome sequencing (ES) versus chromosomal microarray (CMA) for neurodevelopmental disorders through meta-analysis of 30 peer-reviewed articles. Overall ES yield was 36% (31% for isolated NDD, 53% for NDD with associated conditions) versus 15-20% for CMA.
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