Chromosomal microarray testing influences medical management

Genet Med. 2011 Sep;13(9):770-6. doi: 10.1097/GIM.0b013e31821dd54a.


Purpose: Chromosomal microarray (CMA) testing provides the highest diagnostic yield for clinical testing of patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). Despite improved diagnostic yield and studies to support cost-effectiveness, concerns regarding the cost and reimbursement for CMA have been raised because it is perceived that CMA results do not influence medical management.

Methods: We conducted a retrospective chart review of CMA testing performed during a 12-month period on patients with DD/ID, ASD, and congenital anomalies to determine the proportion of cases where abnormal CMA results impacted recommendations for clinical action.

Results: Among 1792 patients, 13.1% had clinically relevant results, either abnormal (n = 131; 7.3%) or variants of possible significance (VPS; n = 104; 5.8%). Abnormal variants generated a higher rate of recommendation for clinical action (54%) compared with VPS (34%; Fisher exact test, P = 0.01). CMA results influenced medical care by precipitating medical referrals, diagnostic imaging, or specific laboratory testing.

Conclusions: For all test indications, CMA results influenced medical management in a majority of patients with abnormal variants and a substantial proportion of those with VPS. These results support the use of CMA as a clinical diagnostic test that influences medical management for this patient population.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / genetics
  • Chromosome Aberrations
  • Chromosomes, Human / genetics
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / therapy
  • Disease Management
  • Genetic Testing / methods*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Microarray Analysis / methods*
  • Retrospective Studies