Cohort eligibility by ‘strength-of-evidence’ score using cutoffs from sample validation
| Classic 46,XX CAH | CAIS | ||||||||
| Score | Count | Reviewed | Validated | PPV (95% CI) | Score | Count | Reviewed | Validated | PPV (95% CI) |
| 10 | 60 | 60 | 52 | 0.87 (0.76 to 0.93) | 10* | 19 | 19 | 16 | 0.84 (0.63 to 0.96) |
| 9 | 58 | 58 | 28 | 0.48 (0.36 to 0.61) | 9* | ||||
| 8 | 92 | 92 | 30 | 0.33 (0.23 to 0.43) | 8 | 26 | 26 | 16 | 0.62 (0.42 to 0.79) |
| 7 | 118 | 30† | 5 | 0.16 (0.06 to 0.33) | 7 | 49 | 49 | 13 | 0.27 (0.16 to 0.40) |
| 6 | 221 | 10 | 0 | 0 | 6 | 68 | 68 | 16 | 0.24 (0.15 to 0.35) |
| 5 | 295 | 10 | 0 | 0 | 5 | 59 | 10 | 0 | 0 |
| 4 | 688 | 10 | 0 | 0 | 4 | 168 | 10 | 0 | 0 |
| 3 | 1020 | 10 | 0 | 0 | 3 | 218 | 10 | 0 | 0 |
| 2 | 1523 | 10 | 0 | 0 | 2 | 41 | 10 | 0 | 0 |
| 1 | 1197 | 10 | 0 | 0 | |||||
| 0 | 132 | 10 | 0 | 0 | |||||
| Total | 5404 | 310 | 115 | 0.37 (0.32 to 0.43) | Total | 648 | 202 | 61 | 0.30 (0.24 to 0.37) |
Shaded rows denote ‘strength-of evidence’ scores below the cut-off (PPV=0), for these scores, validation was limited to randomly selected samples of 10 for each score.
*Presented together to avoid reporting numbers <5.
†Based on age-specific cut-off for full validation: ≥7 for children under 8 years of age and ≥8 for older cohort candidates.
CAH, congenital adrenal hyperplasia; CAIS, complete androgen insensitivity syndrome; PPV, positive predictive value.