Table 1 Neonatal screening program in the Netherlands summarized

All new Dutch parents are offered NBS for their child. Annually, over 99% of approximately 172,000 Dutch neonates undergo NBS [10]. Similar to other NBS programs, a few drops of blood are obtained from the heel and collected on a filter paper card between 72 and 168 h postpartum. The cards with the dried bloodspots are sent to one of five Dutch regional screening laboratories and analyzed for biochemical markers. After analyses, the NDBS cards are pseudonymized through an encrypted barcode and stored centrally at the national reference laboratory. In 2017, the national NBS program has been expanded from 17 to 19 conditions. It is expected to be expanded with 12 additional conditions within five years. The NBS program is directed by the Centre for Population Screening at the RIVM.

1. Alpha-thalassemia (HbH-disease)

2. Beta thalassemia major (TM)

3. Biotinidase deficiency (BIO)

4. Congenital adrenal hyperplasia (CAH)

5. Congenital hypothyroidism (CH)

6. Cystic fibrosis (CF)

7. Galactosemia (GAL)

8. Glutaric acidemia type I (GA-1)

9. HMG-CoA-lyase deficiency (HMG)

10. Isovaleric acidemia (IVA)

11. Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

12. Multiple CoA Carboxylase deficiency (MCD)

13. Maple syrup urine disease (MSUD)

14. Medium-chain acyl CoA dehydrogenase deficiency (MCADD)

15. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)

16. Phenylketonuria (PKU)

17. Sickle cell disease (SCD)

18. Type 1 tyrosinemia (TYR-1)

19. Very long-chain acylCoA dehydrogenase deficiency (VLCADD)

20. Carnitine-acylcarnitine translocase deficiency (CACT)

21. Carnitine palmitoyltransferase deficiency type 1 (CPT1)

22. Carnitine palmitoyltransferase deficiency type 2 (CPT2)

23. Galactokinase deficiency (GALK)

24. Guanidinoacetate methyltransferase deficiency (GAMT)

25. Methyl-acetoacetyl-CoA thiolase deficiency, ketothiolase deficiency (BKT)

26. Methylmalonic acidemia (MMA)

27. Mucopolysaccharidosis type 1 (MPS I)

28. Organic cation transporter 2 (OCTN 2)

29. Propionic acidemia (PA)

30. Severe combined immune deficiency (SCID)

31. X-linked adrenoleukodystrophy (ALD)