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Table 1 Accuracy of newborn screening tests using MS/MS measurement of SUAC

From: Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

Study No. screened SUAC
cut-off
2×2 table Sensitivity% (95% CI) Specificity% (95% CI) PPV%
(95% CI)
NPV% (95% CI)
  TP TN FP FN
Studies reporting screening experiences
La Marca [17] 136,075 [Overlap of 13,000 with [22]] 2 μmol/l 2 NA 0 NA NA NA 100
(19.8-100)
NA
Lund [18] 140,565 2.1 U 1 NA 0 NA NA NA 100
(5.5-100)
NA
Morrissey [12] ~500,000 3 μmol/l 2 NA 1 NA NA NA 66.7
(12.5-98.2)
NA
Sander [19] 61,344 ≥10 μmol/l 2 NA 0 NA NA NA 100
(19.8-100)
NA
Zytkovicz [20] 518,687: 515,592 newborns, 3095 over 1 month old >4 μM (recently reduced to 3.3 μM) positive; SUAC 1.0-3.3 μM intermediate 3 NA 0 NA NA NA 100
(31.0-100)
NA
Case–control studies
Allard [14] 4,002: 3 cases, 3,199 controls 2 μmol/l 3 3199 0 0 100
(31.0-100)
100
(99.85-100)
N/A N/A
Dhillon [21] >1,026: 6 cases, >1,000 controls 3 μmol/l 6 >1,000 0 0 100
(51.7-100)
N/A N/A N/A
La Marca [22] 13,006: 6 cases, 13,000 controls [Overlap with la Marca [17]] 2.4 μmol/l 6 13,000 0 0 100
(51.7-100)
100
(99.96-100)
N/A N/A
Metz [23] 4686: 3 cases, 4683 controls 1.29 μmol/l 3 4683 0 0 100
(30.9-100)
100
(99.90 – 100)
N/A N/A
Turgeon [24] 13,532: 11 cases, 13,521 controls. >5 μmol/l 11 13,521 0 0 100
(67.9-100)
100
(99.96-100)
N/A N/A