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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Chromosomal microarray testing influences medical management.

Michael E Coulter1, David T Miller, David J Harris

  • 1Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 1, 2011
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray (CMA) testing significantly impacts medical management for patients with developmental disorders. Abnormal CMA results led to clinical actions in over half of cases, supporting its use in patient care.

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Area of Science:

  • Genetics
  • Clinical Diagnostics
  • Pediatrics

Background:

  • Chromosomal microarray (CMA) is a key diagnostic tool for developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disorders.
  • Despite high diagnostic yield and cost-effectiveness, concerns persist about CMA's impact on medical management and reimbursement.
  • Previous studies suggest CMA influences clinical decisions, but further evidence is needed to confirm its role in patient care.

Purpose of the Study:

  • To evaluate the impact of chromosomal microarray (CMA) testing results on clinical management recommendations.
  • To determine the proportion of patients with developmental delay, intellectual disability, multiple congenital anomalies, or autism spectrum disorders whose care was influenced by CMA findings.
  • To assess the clinical utility of CMA in guiding medical referrals, diagnostic imaging, and laboratory testing.

Main Methods:

  • Retrospective chart review of 1792 patients who underwent CMA testing over a 12-month period.
  • Categorization of CMA results into abnormal findings and variants of possible significance (VPS).
  • Analysis of the proportion of cases where CMA results led to recommendations for specific clinical actions.

Main Results:

  • Clinically relevant results were found in 13.1% of patients (7.3% abnormal, 5.8% VPS).
  • Abnormal CMA variants prompted recommendations for clinical action in 54% of cases, compared to 34% for VPS (P = 0.01).
  • CMA results influenced medical care through referrals, imaging, and laboratory testing.

Conclusions:

  • CMA testing significantly influences medical management for patients with abnormal variants and a substantial portion with VPS.
  • These findings support the use of CMA as a valuable clinical diagnostic tool that impacts patient care decisions.
  • CMA's ability to guide clinical actions underscores its importance in the diagnostic workup of developmental disorders.