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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