Table 1.
Neonatal screening programme in the Netherlands summarised.
| Screening process | Conditions in the current programme (1 February 2021) | Conditions included in the expansion |
|---|---|---|
| All new Dutch parents are offered NBS for their child. Annually, over 99% of ~170,000 Dutch neonates undergo NBS (2). A few drops of blood are obtained from the heel and collected on a filter paper card between 72 and 168 h post-partum. The cards with the dried bloodspots are sent to one of five Dutch regional screening laboratories and analysed. After analyses, the cards are pseudonymised through an encrypted barcode and stored centrally at the national reference laboratory. The national NBS program has been expanded from 17 to 24 conditions since January 2021. It is expected to be expanded with 8 additional conditions in the coming years. | 1. Alpha-thalassemia (HbH-disease) 2. Beta thalassemia major (TM) 3. Biotinidase deficiency (BIO) 4. Carnitine palmitoyltransferase deficiency type 1 (CPT1) 5. Congenital adrenal hyperplasia (CAH) 6. Congenital hypothyroidism (CH) 7. Cystic fibrosis (CF) 8. Galactosemia (GAL) 9. Galactokinase deficiency (GALK) 10. Glutaric acidemia type I (GA-1) 11. HMG-CoA-lyase deficiency (HMG) 12. Isovaleric acidemia (IVA) 13. Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) 14. Multiple CoA Carboxylase deficiency (MCD) 15. Maple syrup urine disease (MSUD) 16. Medium-chain acyl CoA dehydrogenase deficiency (MCADD) 17. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 18. Methylmalonic acidemia (MMA) 19. Phenylketonuria (PKU) 20. Propionic acidemia (PA) 21. Severe combined immune deficiency (SCID) 22. Sickle cell disease (SCD) 23. Type 1 tyrosinemia (TYR-1) 24. Very long-chain acylCoA dehydrogenase deficiency (VLCADD) |
25. Carnitine-acylcarnitine translocase deficiency (CACT) 26. Carnitine palmitoyltransferase deficiency type 2 (CPT2) 27. Guanidinoacetate methyltransferase deficiency (GAMT) 28. Methyl-acetoacetyl-CoA thiolase deficiency, ketothiolase deficiency (BKT) 29. Mucopolysaccharidosis type 1 (MPS I) 30. Organic cation transporter 2 deficiency (OCTN 2) 31. Spinal muscular atrophy (SMA)a 32. X-linked adrenoleukodystrophy (ALD) |
NBS, neonatal bloodspot screening; RIVM, National Institute for Public Health and the Environment.
a
Addition of SMA was advised and decided on in 2019–2020.