title: Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
abstract: Diagnostic testing for primary ciliary dyskinesia (PCD) usually includes transmission electron microscopy (TEM), nasal nitric oxide, high-speed video microscopy, and genetics. Diagnostic performance of each test should be assessed toward the development of PCD diagnostic algorithms. We systematically reviewed the literature and quantified PCD prevalence among referrals and TEM detection rate in confirmed PCD patients. Major electronic databases were searched until December 2015 using appropriate terms. Included studies described cohorts of consecutive PCD referrals in which PCD was confirmed by at least TEM and one additional test, in order to compare the index test performance with other test(s). Meta-analyses of pooled PCD prevalence and TEM detection rate across studies were performed. PCD prevalence among referrals was 32% (95% CI: 25-39%, I2= 92%). TEM detection rate among PCD patients was 83% (95% CI: 75-90%, I2= 90%). Exclusion of studies reporting isolated inner dynein arm defects as PCD, reduced TEM detection rate and explained an important fraction of observed heterogeneity (74%, 95% CI: 66-83%, I2= 66%). Approximately, one third of referrals, are diagnosed with PCD. Among PCD patients, a significant percentage, at least as high as 26%, is missed by TEM, a limitation that should be accounted toward the development of an efficacious PCD diagnostic algorithm.
authors.affiliation: Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus.
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Kouis
authors.affiliation: Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus.|Medical School, University of Cyprus, Nicosia, Cyprus.
authors.forename: Panayiotis K
authors.initials: PK
authors.lastname: Yiallouros
authors.affiliation: Department of Nursing, Cyprus University of Technology, Limassol, Cyprus.
authors.forename: Nicos
authors.initials: N
authors.lastname: Middleton
authors.affiliation: Department of Environmental Health, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
authors.forename: John S
authors.initials: JS
authors.lastname: Evans
authors.affiliation: Department of Electron Microscopy and Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.|Cyprus School of Molecular Medicine, Nicosia, Cyprus.
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Kyriacou
authors.affiliation: Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus.
authors.forename: Stefania I
authors.initials: SI
authors.lastname: Papatheodorou
mesh_terms: D000465:Algorithms; D015331:Cohort Studies; D003936:Diagnosis, Computer-Assisted; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D046529:Microscopy, Electron, Transmission; D015995:Prevalence; D012017:Referral and Consultation; D012815:Signal Processing, Computer-Assisted