Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Autor: Karen S. Ho, Edward Robert Wassman, Hope Twede, Megan M. Martin, Rena Vanzo, Merlin G. Butler, Charles Hensel, Aparna Prasad, Adrianne L. Baxter
Rok vydání: 2016
Předmět:
Male
0301 basic medicine
Pediatrics
Microarray
Developmental Disabilities
Bioinformatics
FirstStepDx PLUS
lcsh:Chemistry
chromosomal microarray
Intellectual disability
Chromosomes
Human

Copy-number variation
Child
lcsh:QH301-705.5
variants of unknown significance
health care economics and organizations
Spectroscopy
neurodevelopmental disorders
General Medicine
Ultra high resolution
humanities
Computer Science Applications
Autism spectrum disorder
Female
medicine.medical_specialty
DNA Copy Number Variations
autism spectrum disorder
Biology
Article
copy number variants
Catalysis
Inorganic Chemistry
03 medical and health sciences
mental disorders
medicine
Humans
Physical and Theoretical Chemistry
Molecular Biology
Chromosome Aberrations
Microarray analysis techniques
Organic Chemistry
Microarray Analysis
medicine.disease
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
Karyotyping
Etiology
Autism
Zdroj: International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016)
International Journal of Molecular Sciences; Volume 17; Issue 12; Pages: 2070
International Journal of Molecular Sciences
ISSN: 1422-0067
DOI: 10.3390/ijms17122070
Popis: Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory. Using a 2.8 million probe microarray optimized for the detection of CNVs associated with neurodevelopmental disorders, we report an overall CNV detection rate of 28.1% in 10,351 consecutive patients, which rises to nearly 33% in cases without ASD, with only developmental delay/intellectual disability (DD/ID) and/or multiple congenital anomalies (MCA). The overall detection rate for individuals with ASD is also significant at 24.4%. The detection rate and pathogenic yield of CMA vary significantly with the indications for testing, age, and gender, as well as the specialty of the ordering doctor. We note discrete differences in the most common recurrent CNVs found in individuals with or without a diagnosis of ASD.
Databáze: OpenAIRE