Table 1.
All recalls, true positive cases, incidences during and before screening, false positive cases, missed cases, and PPV values during the entire reporting period. Within parenthesis are listed the corresponding numbers if counting babies with confirmed vitamin B12 deficiency as false positive. N/A stands for not applicable.
| Group | Disease | All Recalls | True Positive Cases | Incidence | Incidence before Screening | False Positive Cases | Missed Cases | PPV |
|---|---|---|---|---|---|---|---|---|
| Amino acidemias | HCY | 15 | 3 | 1:330,000 | 1:265,000 | 12 | - | 20% |
| MSUD | 20 | 9 | 1:110,000 | 1:265,000 | 11 | - | 45% | |
| PKU | 77 | 74 2 | 1:14,000 | N/A | 3 | - | 96% | |
| Carnitine disorders | CACT/CPT2 | 14 | 3 3 | 1:330,000 | N/A | 11 | 2 CPT2 6 | 21% |
| CUD | 107 | 13 | 1:80,000 | N/A | 94 5 | - | 12% | |
| CPT1 | 6 | 5 | 1:200,000 | N/A | 1 | - | 83% | |
| Fatty acid oxidation defects | LCHAD | 14 | 13 | 1:80,000 | 1:92,000 | 1 | - | 93% |
| MAD | 39 | 5 | 1:170,000 | N/A | 34 | - | 15% | |
| MCAD | 67 | 59 | 1:17,000 | 1:235,000 | 8 | - | 88% | |
| VLCAD | 46 | 24 | 1:42,000 | 1:1,060,000 | 22 | - | 52% | |
| Organic acidurias | BKT | 2 | 2 | 1:500,000 | N/A | 0 | - | 100% |
| GA1 | 31 | 9 | 1:110,000 | 1:235,000 | 22 | - | 29% | |
| IVA | 18 | 6 | 1:170,000 | 1:530,000 | 12 | - | 33% | |
| MMA/PA | 165 | 63 (15) 4 | 1:16,000 (1:67,000) | N/A (1:118,000) | 102 (150) | 1 PA 7 | 38% (9%) | |
| TYR | 10 | 9 | 1:110,000 | N/A | 1 | - | 90% | |
| Urea cycle disorders | ARG | 4 | 2 | 1:500,000 | 1:265,000 | 2 | - | 50% |
| ASA 1 | 5 | 3 | 1:330,000 | N/A | 2 | 1 ASA 8 | 60% | |
| CIT 1 | 25 | 9 | 1:110,000 | 1:2,120,000 | 16 | - | 36% | |
| Total | 665 | 311 (263) | 1:3200 (1:3800) | N/A | 354 (402) | 4 | 47% (40%) |
1 We could not separate ASA and CIT at point of recall before 2015. 2 Three had 6-pyruvoyl-tetrahydropterin synthase deficiency. 3 One CACT and two CPT2, one of which also had MAD. 4 Four methylmalonyl-coenzyme A mutase deficiency, one cobalamin A deficiency, three cobalamin C deficiency, seven PA and 48 B12 deficiency. 5 Six were due to confirmed maternal CUD and six due to confirmed maternal carnitine-lowering medication. 6 One was from 2011, the other was from 2012. 7 From 2014. 8 From 2016.