Table 4.
Scoring outcomes of different Beckwith-Wiedemann syndrome clinical diagnostic criteria
| Sensitivity | Specificity | Positive predictive value | Negative predictive value | |
|---|---|---|---|---|
| New scoring system† |
75.9% |
81.8% |
78.4% |
79.6% |
| Elliott et al. [17] |
43.5% |
93.9% |
86.2% |
65.7% |
| DeBaun and Tucker [16] |
83.5% |
62.3% |
65.8% |
81.3% |
| Weksberg et al. [19] |
74.4% |
75.4% |
72.5% |
77.2% |
| Zarate et al.[20] |
69.8% |
82.5% |
77.7% |
75.8% |
| Gaston et al. [18]‡ | 43.3% | 94.1% | 86.5% | 65.6% |
†Probability threshold of 0.5 (outcome score ≥3.5) was used for a positive molecular diagnosis. ‡Complete classification of Beckwith-Wiedemann syndrome was used (see Table 5).