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September 17, 2020
Sponsored by
Thermo Fisher Scientific

Clinical Diagnosis of Developmental Disorders with Chromosomal Microarrays


Senior Director, Cytogenetics Laboratory,
Greenwood Genetic Center

The prevalence of developmental disability among US children aged 3 to 17 years increased between 2009 and 2017, with as many as 1 in 6 children in the US reported to have a developmental disability diagnosis. Developmental delay/intellectual disability (DD/ID) is frequently accompanied with one or more congenital anomalies or dysmorphic features. 

Chromosomal microarrays (CMA) are an established technology that has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs) and now represents a robust technical platform for both medical genetics research and clinical services. The American Academy of Neurology, the American College of Medical Genetics, and the International Collaboration for Clinical Genomics recommend CMAs as the first-line test to aid in the diagnostic evaluation of intellectual disability.

CMA is replacing traditional karyotype and FISH as the first-line genetic test due to its greater sensitivity, higher resolution, genome-wide capability, and greater diagnostic yield. The CytoScan Dx Assay is the first FDA-cleared chromosomal microarray test to aid in the identification of the underlying genetic cause of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.

Join Barb Dupont from Greenwood Genetic Center to: 

  • Learn about the importance of CMA postnatal assessments for developmental delay, intellectual disability, congenital anomalies, or dysmorphic features
  • Discover the advantages of using a higher-resolution CMA solution when compared to conventional techniques such as karyotyping and FISH
  • Understand how CMA results from CytoScan Dx Assay can be used in conjunction with other clinical and diagnostic findings by healthcare professionals
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