Skip to main content

Advertisement

Table 4 Scoring outcomes of different Beckwith-Wiedemann syndrome clinical diagnostic criteria

From: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

  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%
  1. 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).