Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis

Objectives/hypothesis: To systematically review the literature regarding the efficacy of different biopsy sites and methods to obtain an adequate ciliary sample for ultrastructural examination with electron microscopy (EM) for the diagnosis of primary ciliary dyskinesia (PCD).

Study design: Systematic review and meta-analysis.

Methods: A literature search was conducted with respect to the diagnosis of PCD. English studies with five or more subjects were included. Successful biopsy was defined as an adequate ciliary sample to make or exclude the diagnosis of PCD.

Results: Eight studies met inclusion criteria. These studies included 1,993 patients who underwent 2,299 ciliary biopsies. Included studies were level 3 or 4 evidence. The weighted pooled proportion of obtaining an adequate specimen from a nasal biopsy was 76% (95% confidence interval [CI], 64%-86%) versus 66% (95% CI, 62%-69%) for a tracheobronchial site (P = 0.10). The pooled proportion of obtaining an adequate sample was 68% for both brush and forceps biopsy groups (95% CI, 58%-77% and 54%-81%, respectively). Nasal scraping yielded a higher proportion of adequate specimens (pooled proportion of 92%; 95% CI, 82%-99%) than other techniques (P = 0.002).

Conclusion: Tissue biopsy is one component of diagnosing PCD. We found no significant difference between biopsy sites in terms of obtaining an adequate ciliary sample for EM evaluation. This suggests that nasal biopsy should be preferred for patients old enough to tolerate an office biopsy without the need for general anesthesia. The merits of nasal versus tracheobronchial biopsy in the operating room depend more on the risks and benefits of the procedure being performed.

Level of evidence: NA Laryngoscope, 127:6-13, 2017.