Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

, Bruna Rubbo, Amelia Shoemark, Claire L. Jackson, Robert Hirst, James Thompson, Joseph Hayes, Emily Frost, Fiona Copeland, Claire Hogg, Christopher O'Callaghan, Isabel Reading, Jane S. Lucas (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

58 Citations (Scopus)
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Background: Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests. High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis. It can be analyzed on the day of diagnostic consultation, but the qualitative analyses are subjective. Diagnostic accuracy and reliability of assessing ciliary function have not been robustly evaluated. We aimed to establish the accuracy of HSVA to diagnose PCD compared with a combination of tests, and to assess the interobserver reliability of HSVA analysis.

Methods: We randomly selected and anonymized archived videos from 120 patients seen at three UK PCD centers. Three experienced scientists independently reviewed six videos per patient, using a standardized proforma, blinded to diagnostic and clinical data. We compared study outcomes with two references: (1) a combination of diagnostic tests in accordance with the European Respiratory Society PCD diagnostic guidelines and (2) original clinical outcome determined by all available diagnostic tests.

Results: HSVA had excellent sensitivity and specificity to diagnose PCD: (1) 100% and 96%, respectively, compared with ERS guidelines, and (2) 96% and 91% compared with diagnostic outcomes. There was high interobserver agreement for “PCD-positive” outcomes (κ = 0.7).

Conclusions: Specialist scientists accurately diagnosed PCD using HSVA, with high interobserver agreement. HSVA can be reliably used to counsel patients and commence treatment on the day of testing while awaiting confirmatory investigations.

Original languageEnglish
Pages (from-to)1008-1017
Number of pages10
Issue number5
Early online date28 Feb 2019
Publication statusPublished - 1 May 2019


  • accuracy
  • diagnostic tests
  • microscopy
  • primary ciliary dyskinesia
  • sensitivity and specificity

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine


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