Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Rolph Pfundt, Kat Kwiatkowski, Alan Roter, Anju Shukla, Erik C Thorland, Richard Hockett, Barbara Dupont, Eric T. Fung, Alka Chaubey

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Purpose:The prevalence of developmental disabilities in the United States is reported to be 13.87% across all racial, ethnic, and socioeconomic groups. Microarrays have been recommended as first-tier tests for these patients. This study reports the diagnostic yield and potential actionability of findings using a high-density chromosomal microarray (CMA).Methods:The diagnostic yield of CytoScan Dx Assay in 960 patients was assessed with the Riggs criteria of actionability to evaluate predicted clinical utility.Results:Eighty-six percent of the subjects were assessed using a microarray as part of historical routine patient care (RPC). The rate of pathogenic findings was similar between RPC (13.3%) and the CytoScan Dx Assay (13.8%). Among the 138 patients who did not receive microarray as RPC, the diagnostic yield for CytoScan Dx Assay was 23.9% as compared with 14.5%, indicating a 9.4% improvement when using higher-resolution methods. Thirty-five percent of patients with abnormal findings had predicted clinical management implications.Conclusions:This is the first study to assess the clinical performance of CytoScan Dx Assay. The assay's diagnostic yields are similar to those found in other studies of CMAs. Thirty-five percent of patients with abnormal findings are predicted to have clinical management implications that may improve health outcomes.

Original languageEnglish (US)
Pages (from-to)168-173
Number of pages6
JournalGenetics in Medicine
Volume18
Issue number2
DOIs
StatePublished - Feb 1 2016

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Keywords

  • chromosomal microarray
  • clinical performance
  • congenital anomalies
  • developmental delay
  • intellectual disability

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)

Cite this

Pfundt, R., Kwiatkowski, K., Roter, A., Shukla, A., Thorland, E. C., Hockett, R., Dupont, B., Fung, E. T., & Chaubey, A. (2016). Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability. Genetics in Medicine, 18(2), 168-173. https://doi.org/10.1038/gim.2015.51