Chest
Volume 155, Issue 5, May 2019, Pages 1008-1017
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Original Research: Genetic and Developmental Disorders
Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

https://doi.org/10.1016/j.chest.2019.01.036Get rights and content
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open access

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.

Key Words

accuracy
diagnostic tests
microscopy
primary ciliary dyskinesia
sensitivity and specificity

Abbreviations

ALI
air-liquid interface
CBP
ciliary beat pattern
ERS
European Respiratory Society
HSVA
high-speed video microscopy analysis
MDT
multidisciplinary team
nNO
nasal nitric oxide
PCD
primary ciliary dyskinesia
TEM
transmission electron microscopy

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FUNDING/SUPPORT: This report is independent research funded by the National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme (Grant Reference No. PB-PG-1215-20014). The views expressed are those of the authors and not necessarily those of the National Health Service (NHS), the NIHR, or the Department of Health. The PCD Diagnostic Centres in Southampton, Leicester, and London are funded by NHS England.

DISCLAIMER: We shall make study data available to the scientific community with as few restrictions as feasible, while retaining exclusive use until the publication of major outputs. Anonymized study data will be available from the corresponding author. Ethical approvals for the use of the video archive currently restrict access to the UK PCD Centres; J. S. L., C. O’C., and C. H. are custodians of these clinical data.