Sensitivity and specificity of the three clinical scoring systems calculated for our cohort of patients
| NH CSS (%) | Netchine et al9 (%) | Birmingham (%) | |
|---|---|---|---|
| Sensitivity (Birmingham article) | N/A | 70.0 | 82.0 |
| Specificity (Birmingham article) | N/A | 81.0 | 80.0 |
| Sensitivity (Netchine-Harbison data) | 97.9 | 91.5 | 83.7 |
| Specificity (Netchine-Harbison data) | 36.4 | 45.5 | 45.0 |
| Positive predictive value | 76.7 | 78.2 | 76.6 |
| Negative predictive value | 88.9 | 71.4 | 56.3 |
The ‘Likely-SRS’ patients with molecular causes other than mUPD7 or 11p15 ICR1 hypomethylation are considered as false positives for the purposes of this assessment.
mUPD, maternal UPD of chromosome 7; NH-CSS, Netchine-Harbison clinical scoring system; SRS, Silver-Russell syndrome.