TABLE 1.
Clinical characteristics of the referral population grouped by positive, negative, valid-inconclusive and invalid-inconclusive diagnostic outcomes
| Total referrals | Positive | Negative | Valid-inconclusive | Invalid-inconclusive | |||||||||||
| Yes | No | NA# | Yes | No | NA# | Yes | No | NA# | Yes | No | NA# | Yes | No | NA# | |
| Subjects | 868 | 75 | 566 | 13 | 214 | ||||||||||
| Male | 362 (42) | 393 (45) | 11 (13) | 34 (45) | 36 (48) | 5 (7) | 249 (44) | 278 (49) | 39 (7) | 7 (54) | 6 (46) | 0 (0) | 72 (34) | 73 (34) | 69 (32) |
| Full-term gestation | 346 (40) | 102 (12) | 420 (48) | 66 (88) | 7 (9) | 2 (3) | 242 (43) | 80 (14) | 244 (43) | 8 (61) | 2 (15) | 3 (23) | 30 (14) | 13 (6) | 171 (80) |
| Sibling with PCD | 32 (4) | 792 (91) | 44 (5) | 18 (24) | 55 (73) | 2 (3) | 9 (2) | 529 (93) | 28 (5) | 0 (0) | 11 (85) | 2 (15) | 5 (2) | 197 (92) | 12 (6) |
| Neonatal unit | 138 (16) | 694 (80) | 35 (4) | 46 (61) | 25 (33) | 4 (5) | 77 (14) | 466 (82) | 23 (4) | 3 (23) | 9 (69) | 1 (8) | 12 (6) | 194 (91) | 8 (4) |
| Situs abnormality | 70 (8) | 788 (91) | 10 (1) | 33 (44) | 42 (56) | 0 (0) | 22 (5) | 537 (95) | 7 (0) | 4 (31) | 9 (69) | 0 (0) | 11 (5) | 200 (93) | 3 (1) |
| Cardiac abnormality | 20 (2) | 848 (98) | 0 (0) | 6 (8) | 69 (92) | 0 (0) | 10 (2) | 556 (98) | 0 (0) | 0 (0) | 13 (100) | 0 (0) | 4 (2) | 210 (98) | 0 (0) |
| Pulmonary symptoms | 710 (82) | 158 (18) | 0 (0) | 72 (96) | 3 (4) | 0 (0) | 488 (86) | 78 (14) | 0 (0) | 12 (93) | 1 (7) | 0 (0) | 138 (64) | 76 (36) | 0 (0) |
| Rhinitis | 477 (55) | 389 (45) | 2 (0) | 61 (81) | 14 (19) | 0 (0) | 325 (57) | 239 (42) | 2 (1) | 9 (69) | 4 (31) | 0 (0) | 82 (38) | 132 (62) | 0 (0) |
| Sinusitis | 192 (22) | 663 (76) | 13 (2) | 21 (28) | 53 (71) | 1 (1) | 138 (24) | 416 (74) | 12 (2) | 5 (38) | 8 (62) | 0 (0) | 28 (13) | 186 (87) | 0 (0) |
Data are presented as n or n (%). Patients with invalid-inconclusive outcomes were excluded from the study population for analyses. NA: not available; PCD: primary ciliary dyskinesia. #: for example, children did not know their fertility status; older adults did not know neonatal details; and in a minority of cases the data were simply not recorded.