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Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to
Susan G McGrew1, Brittany R Peters, Julie A Crittendon
1Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, Nashville, TN 37232-9003, USA. susan.g.mcgrew@vanderbilt.edu
Journal of Autism and Developmental Disorders
|November 18, 2011
Summary
Chromosomal Microarray Analysis (CMA) is the superior genetic test for autism spectrum disorder (ASD). This study found CMA yielded more clinically significant results than karyotype or Fragile X testing in pediatric patients.
Area of Science:
- Genetics
- Pediatrics
- Developmental Neuroscience
Background:
- Genetic testing is crucial for diagnosing autism spectrum disorder (ASD), but recommendations differ across medical specialties.
- Current guidelines suggest karyotype and Fragile X testing (American Academy of Pediatrics, American Academy of Neurology) or Chromosomal Microarray Analysis (CMA) (American College of Medical Genetics).
Purpose of the Study:
- To compare the diagnostic yield of CMA, karyotype, and Fragile X testing in a pediatric autism practice.
- To establish the optimal first-tier genetic testing strategy for ASD evaluation.
Main Methods:
- Retrospective analysis of genetic testing results in a primary pediatrics autism practice.
- Evaluated Chromosomal Microarray Analysis (N=85), G-banded karyotype (N=119), and Fragile X DNA testing (N=174).
- Correlated CMA findings with clinical features such as cognitive level, seizures, dysmorphology, and congenital malformations.
Main Results:
- Chromosomal Microarray Analysis identified abnormalities in 24% of patients, with 8 cases being clinically significant.
- Karyotype testing revealed three abnormal results, and Fragile X testing identified one case of Fragile X syndrome.
- No significant association was found between CMA results and cognitive level, seizures, dysmorphology, congenital malformations, or behavior.
Conclusions:
- Chromosomal Microarray Analysis demonstrates a higher diagnostic yield for clinically significant genetic abnormalities in ASD compared to karyotype and Fragile X testing.
- CMA should be adopted as the primary, first-tier genetic diagnostic standard for all specialties evaluating patients with ASD.
- This recommendation supports more efficient and effective genetic diagnosis in pediatric autism care.
