Table 1 Conditions included in the Dutch newborn bloodspot screening program (as of 1 June 2023).
From: A framework for evaluating long-term impact of newborn screening
No. | Condition | Recommended by the Health Council of the Netherlands | Implemented |
|---|---|---|---|
1 | Spinal muscular atrophy (SMA) | 2019 | 2022 |
2 | Mucopolysaccharidosis type I (MPS-I) | 2015 | 2021 |
3 | Severe combined immunodeficiency (SCID) | 2015 | 2021 |
4 | Galactokinase deficiency (GALK) | 2015 | 2020 |
5 | Propionic acidemia (PA) | 2015 | 2019 |
6 | Methylmalonic acidemia (MMA) | 2015 | 2019 |
7 | Carnitine-palmitoyltransferase deficiency type 1 (CPT1) | 2015 | 2019 |
8 | Alpha-thalassemia | 2015 | 2017 |
9 | Beta-thalassemia | 2015 | 2017 |
– | Carnitine-acylcarnitine translocase deficiency (CACT) | 2015 | In preparation |
– | Carnitine-palmitoyltransferase deficiency type 2 (CPT2) | 2015 | In preparation |
– | Methyl-acetoacetyl-CoA thiolase deficiency (MAT) | 2015 | In preparation |
– | Guanidinoacetate methyltransferase deficiency (GAMT) | 2015 | In preparation |
– | X-linked adrenoleukodystrophy (X-ALD) | 2015 | Per October 1st, 2023 |
– | Organic cation transporter 2 defect (OCTN2) | 2015 | In preparation |
10 | Cystic fibrosis (CF) | 2005 | 2011 |
11 | Sickle cell disease (SZ) | 2005 | 2007 |
12 | Biotinidase deficiency (BIO) | 2005 | 2007 |
13 | Classic galactosemia (GAL) | 2005 | 2007 |
14 | Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) | 2005 | 2007 |
15 | Long-chain-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) | 2005 | 2007 |
16 | Very-long-chain-acylCoA dehydrogenase deficiency (VLCADD) | 2005 | 2007 |
17 | 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) | 2005 | 2007 |
18 | Glutaric aciduria type 1 (GA-1) | 2005 | 2007 |
19 | HMG-CoA lyase deficiency (HMG) | 2005 | 2007 |
20 | Isovaleric acidemia (IVA) | 2005 | 2007 |
21 | Maple syrup urine disease (MSUD) | 2005 | 2007 |
22 | Multiple carboxylase deficiency (MCD) | 2005 | 2007 |
23 | Tyrosinemia type 1 (TYR-1) | 2005 | 2007 |
– | Homocystinuria (HCU) | 2005 | 2007; discontinued in 2010 and officially removed in 2016. |
24 | Congenital adrenal hyperplasia (CAH) | – | 2000 |
25 | Congenital hypothyroidism (CH): both thyroidal or central origin | – | 1981 |
26 | Phenylketonuria (PKU) | – | 1974 |
