Table 1.
Characteristics of the study populations for each clinical outcome stratified by diagnosis by NBS
| Weight | BMI | %FEV1 | cPA | |||||
| Clin. diag. | Diag. by NBS | Clin. diag. | Diag. by NBS | Clin. diag. | Diag. by NBS | Clin. diag. | Diag. by NBS | |
| N | 1799 | 1468 | 1792 | 1460 | 1444 | 772 | 1827 | 1526 |
| Age range in years | 1–15.9 | 1–15.6 | 1–15.8 | 1–15.9 | 5–15.9 | 5–15.6 | 0–15.9 | 0–15.9 |
| Male (%) | 904 (50.3) | 757 (51.6) | 900 (50.2) | 754 (51.6) | 712 (49.3) | 401 (51.9) | 920 (50.4) | 787 (51.6) |
| Non-white ethnicity (%) | 116 (6.4) | 53 (3.6) | 116 (6.5) | 52 (3.6) | 87 (6.0) | 32 (4.1) | 116 (6.3) | 57 (3.7) |
| Born abroad (%) | 102 (5.7) | 35 (2.4) | 101 (5.6) | 35 (2.4) | 81 (5.6) | 27 (3.5) | 102 (5.6) | 39 (2.6) |
| F508 class (%) | ||||||||
| Homozygous | 1005 (55.9) | 756 (51.5) | 1004 (56.0) | 755 (51.7) | 821 (56.9) | 398 (51.6) | 1016 (55.6) | 789 (51.7) |
| Heterozygous | 608 (33.8) | 595 (40.5) | 603 (33.6) | 589 (40.3) | 478 (33.1) | 305 (39.5) | 625 (34.2) | 615 (40.3) |
| Other | 186 (10.3) | 117 (8.0) | 185 (10.3) | 116 (7.9) | 145 (10.0) | 69 (8.9) | 186 (10.2) | 122 (8.0) |
| IMD z-score (median (IQR)) | −0.29 (−0.79- 0.53) | −0.29 (−0.79- 0.66) | −0.29 (−0.79- 0.53) | −0.29 (−0.79- 0.66) | −0.29 (−0.79- 0.53) | −0.29 (−0.79-0.53) | −0.29 (−0.79- 0.53) | −0.29 (−0.79- 0.66) |
| Meconium Ileus (%) | 596 (33.1) | 0 (0.0) | 593 (33.1) | 0 (0.0) | 425 (29.4) | 0 (0.0) | 611 (33.4) | 0 (0.0) |
| Pancreatic insufficient (%) | 1592 (88.5) | 1227 (83.6) | 1589 (88.7) | 1223 (83.8) | 1293 (89.5) | 659 (85.4) | 1614 (88.3) | 1276 (83.6) |
| Born pre-2007 (%) | 1192 (66.3) | 289(19.7) | 1192 (66.5) | 289 (19.8) | 1174 (81.3) | 287 (37.2) | 1193 (65.3) | 289 (18.9) |
| Median age at diagnosis in years (IQR) | 0.14 (0–7.82) | 0.07 (0–0.42) | 0.14 (0–7.84) | 0.07 (0–0.42) | 0.24 (0–8.45) | 0.07 (0–0.5) | 0.13 (0–7.75) | 0.07 (0–0.41) |
| Mean outcome (SD) between the ages 1 and 2 for weight and bmi and ages 5 and 6 for %FEV1 | 0.07 (1.05) | 0.26 (1.03) | 0.58 (1.11) | 0.7 (1.03) | 87.88 (16.38) | 89.22 (15.76) | NA | NA |
| Mean FVC between ages 5 and 6 (SD) | NA | NA | NA | NA | 93.37 (17.24) | 94.66 (15.46) | NA | NA |
| Median FEV1/FVC between ages 5 and 6 (IQR) | NA | NA | NA | NA | 0.96 (0.89–1.02) | 0.96 (0.89–1) | NA | NA |
BMI, body mass index; cPA, chronic Pseudomonas aeruginosa; FEV1, forced expiratory volume in one second; FVC, forced vital capacity; NBS, newborn bloodspot screening.