Table 2. Rate of pathological screening results (recall rate) and positive predictive value (PPV).
| Disorder |
Cases detected (2006–2018) |
Recall rate (%) | Positive predictive value (PPV) (%)*1 | ||||
|
Total (2006–2018) |
2006 | 2018 |
Total (2006–2018) |
2006 | 2018 | ||
| Congenital hypothyroidism | 2762 | 0.082 | 0.095 | 0.073 | 35.949 | 24.700 | 40.860 |
| Congenital adrenal hyperplasia | 618 | 0.293 | 0.578 | 0.130 | 2.327 | 1.490 | 5.770 |
| Biotinidase deficiency | 325 | 0.025 | 0.021 | 0.03 *2 | 14.607 | 18.490 | 8.650 |
| Galactosemia (classic form) | 120 | 0.046 | 0.089 | 0.032 | 2.905 | 2.290 | 4.450 |
| Hyperphenylalaninemias (PKU/HPA) | 1752 | 0.034 | 0.030 | 0.035 | 56.190 | 53.700 | 57.720 |
| Maple syrup disease | 54 | 0.009 | 0.012 | 0.006 | 6.742 | ||
| MCAD deficiency | 914 | 0.022 | 0.024 | 0.018 | 44.006 | 39.880 | 47.550 |
| LCHAD/TFP deficiency | 65 | 0.004 | 0.003 | 0.002 | 15.625 | ||
| VLCAD deficiency | 122 | 0.020 | 0.021 | 0.014 | 6.842 | 6.290 | 14.290 |
| Carnitine cycle defects | 16 | 0.002 | 0.001 | 0.001 | 7.175 | ||
| Glutaric aciduria type I | 66 | 0.018 | 0.014 | 0.009 | 4.052 | ||
| Isovaleric acidemia | 103 | 0.009 | 0.013 | 0.011 | 13.359 | 10.990 | 13.640 |
| Total | 6917 | 0.557 *3 | 0.901 | 0.366 | 13.428 | 7.770 | 21.051 |
| Tyrosinemia type I*4 | 6 | ||||||
N = 9 244 411 neonates were screened in the period 2006 to 2018.
The quality parameters of neonatal screening (recall rate and PPV) improved considerably over time.
The recall rate is calculated from the number of positive screening results in relation to the number of children screened; The PPV describes the probability of confirmation of the diagnosis after positive screening (see Box).
*1 Not reported in stratified form for disorders found in fewer than n < 100 cases
*2 One laboratory introduced new analytic procedures for biotinidase deficiency, leading to an increase in positive results.
*3 Deviation due to rounding phenomena
*4 Universal screening for tyrosinemia type I was started in March 2018. No recall rate was calculated because there is no nominator for this period.
HPA, Mild hyperphenylalaninemia; LCHAD/TFP, long-chain 3-OH-acyl-CoA dehydrogenase/trifunctional protein; MCAD, medium-chain acyl-CoA dehydrogenase; PKU, phenylketonuria; VLCAD, (very-)long-chain acyl-CoA dehydrogenase