title: Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?
abstract: Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.
authors.affiliation: Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, Nashville, TN 37232-9003, USA. susan.g.mcgrew@vanderbilt.edu
authors.forename: Susan G
authors.initials: SG
authors.lastname: McGrew
authors.forename: Brittany R
authors.initials: BR
authors.lastname: Peters
authors.forename: Julie A
authors.initials: JA
authors.lastname: Crittendon
authors.forename: Jeremy
authors.initials: J
authors.lastname: Veenstra-Vanderweele
mesh_terms: D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D004247:DNA; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D046228:Microarray Analysis; D010372:Pediatrics; D017410:Practice Guidelines as Topic; D011320:Primary Health Care
chemical_list: D004247:DNA
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