title: Chromosomal microarray testing influences medical management.
abstract: OBJECTIVE
  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.
authors.affiliation: Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Coulter
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
authors.forename: David J
authors.initials: DJ
authors.lastname: Harris
authors.forename: Pamela
authors.initials: P
authors.lastname: Hawley
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Magdi M
authors.initials: MM
authors.lastname: Sobeih
authors.forename: Mira
authors.initials: M
authors.lastname: Irons
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D019468:Disease Management; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D012189:Retrospective Studies