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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).