TABLE 2.

Results of Expanded Newborn Screening in 250 000 Newborns: Frequency of Screened Disorders and Diagnostic Specificity, Sensitivity, and Positive Predictive Value of the Method

Screening PositivesPrevalence of Disorder (With Variants)False-Positive (Specificity, %)False-Negatives (Sensitivity, %)Positive Predictive Value, %
Classic FormVariantsDisorder Suspected
Amino acidemias
 PKU243131:10,400 (1:4,500)115 (99.95)0 (100) PKU 4 (88.57) HPA32.35
 Tyrosinemia I111:250,00051 (99.98)0 (100)1.92
 Maple syrup urine disease111:250,000 (1:125,000)23 (99.99)0 (100)8.00
 Citrullinemia151:250,000 (1:41,700)12 (∼100)0 (100)33.33
 Argininosuccinate lyase0
 Nonketotic hyperglycinemia11:250,00039 (99.98)0 (100)2.50
 Homocystinuria80
FAO disorders
 Long-chain 3-OH acyl-CoA dehydrogenase/mitochondrial trifunctional protein111:250,00010 (∼100)0 (100)9.09
 Very long-chain acyl-CoA dehydrogenase11(1:250,000)31 (99.99)0 (100)3.13
 MCAD1241:20,800 (1:15,600)46 (99.98)0 (100)25.81
 Short-chain acyl-CoA dehydrogenase34(1:83,300)23 (99.99)0 (100)11.54
 Multiple acyl-CoA dehydrogenase11:250,0008 (∼100)0 (100)11.11
 Carnitine transporter defect121:250,00086 (99.97)0 (100)1.15
 Carnitine palmitoyltransferase I40 (100)
 Carnitine palmitoyltransferase II/carnitine-acylcarnitine translocase11:250,00047 (99.98)0 (100)2.08
Organic acidurias
 Propionic aciduria111:250,000205 (99.92)0 (100)1.91
 Methylmalonic aciduria1(1:250,000)0 (100)
 Cobalamin disorders21:125,0000 (100)
 Glutaric aciduria type I31:83,30059 (99.98)0 (100)4.84
 Isovaleric aciduria421:62,50033 (99.99)0 (100)10.81
 HMG-CoA Lyase1114 (99.99)0 (100)30.00
 Holocarboxylase synthetase0 (100)
 3-methylcrotonyl-CoA carboxylase241:125,000 (1:41,700)0 (100)
Amino acidemias-total283741:8,900 (1:3,800)258 (99.90)4 (94.20)20.12
FAO disorders-total16881:15,600 (1:10,400)250 (99.90)0 (100)8.57
Organic acidurias-total125141:20,800 (1:14,700)317 (99.87)0 (100)5.09
MS/MS screening-total5650261:4,500 (1:2,400)825 (99.67)4 (96.36)11.31
  • HMG indicates 3-hydroxy-3-methylglutaryl.