Original Paper

Journal of Autism and Developmental Disorders

, Volume 42, Issue 8, pp 1582-1591

First online:

Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?

  • Susan G. McGrewAffiliated withDepartment of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical CenterVanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Email author 
  • , Brittany R. PetersAffiliated withDepartment of Pediatrics, Vanderbilt University Medical Center
  • , Julie A. CrittendonAffiliated withDepartment of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical CenterVanderbilt Kennedy Center for Research on Human Development, Vanderbilt University
  • , Jeremy Veenstra-VanderWeeleAffiliated withVanderbilt Kennedy Center for Research on Human Development, Vanderbilt UniversityDepartments of Psychiatry, Pediatrics and Pharmacology, Vanderbilt University Medical Center

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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.

Keywords

Genetic testing guidelines Chromosomal microarray Karyotype Dysmorphology