Diagnosing Primary Ciliary Dyskinesia Using High-Speed Video Microscopy

Experienced scientists who used high-speed video microscopy analysis demonstrated excellent sensitivity and specificity to diagnose primary ciliary dyskinesia (PCD) compared with typical diagnostic measures, according to study results published in CHEST.

A total of 720 high-speed video microscopy analysis videos from 120 patients were analyzed by the 3 experienced scientists. Scientists were independently asked to diagnose each patient’s PCD status, which was then compared between scientists, as well as to a combination of diagnostic tests following the European Respiratory Society PCD diagnostic guidelines and original clinical outcome determined by all available diagnostic tests. The percentage of positive, negative, and inconclusive patient samples included were 50%, 30%, and 20%, respectively.

When using the European Respiratory Society PCD diagnostic guidelines, 36 patient samples were “PCD positive,” 16 were “PCD highly likely,” 26 were “PCD highly unlikely,” and 42 were “inconclusive.” There was excellent sensitivity (100%) and specificity (96.2%) between the study decisions of high-speed video microscopy analysis scientists and the European Respiratory Society PCD diagnostic guidelines. When using the multidisciplinary team diagnostic outcome as the reference standard, 59 patients were “PCD positive,” 36 “PCD highly unlikely,” and 25 had inconclusive test results. There was excellent sensitivity (96.7%) and specificity (91.1%) of study HSVA analysis compared with the original multidisciplinary team diagnostic outcome. Individual scientist sensitivity ranged from 95.9% to 100% and specificity from 66.7% to 100%.

“Our study demonstrates that specialist scientists can reliably use HVSA to diagnose some PCD patients on the day of testing,” the researchers wrote. “This provides the necessary evidence to counsel patients and initiate lifelong treatment in a ‘one-stop clinic’ with the proviso that the final diagnostic outcome might change once all test results are available.”

Reference

Rubbo B, Shoemark A, Jackson CL, et al. Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia [published online February 28, 2019]. CHEST. doi:10.1016/j.chest.2019.01.036