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

Clinical Epigenetics

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).

ISSN: 1868-7083