Newborn screening
In the Netherlands, newborn screening is done by the National Institute for Public Health and the Environment (RIVM) with the purpose of testing newborn babies for a number of rare disorders.
In the Dutch neonatal screening program, all newborns are screened for 27 rare disorders, including 19 metabolic disorders. A special device is used to take a few drops of blood from the baby's heel, which will then be collected on a heel prick blood test card. The test is done at home by the midwife or maternity nurse in the first week after the baby is born. If your baby is still in the hospital, the screening will take place there.
The heel prick blood test card will then be sent to the screening laboratory. Within 5 weeks you will receive the results from the test. In case the results are good, you will receive a letter from the RIVM. In case an abnormality is detected, your general practicioner will be notified who will then contact you as soon as possible. When a metabolic disorder is suspected, your baby will be referred to one of the Dutch metabolic centers for additional testing.
When you baby is referred to the Center for Lysosomal and Metabolic Diseases, your baby will be seen by the metabolic pediatrician. In most cases the metabolic pediatrician will order additional blood and urine tests to confirm the diagnosis. In some cases, the additional testing will reveal that your baby does not have a metabolic disorder. This is called a false-positive test result.
The RIVM tests for the following 19 metabolic disorders:
- Adrenoleukodystrophy (ALD)
- Biotinidase deficiency
- Carnitine palmitoyltransferase deficiency 1 (CPT1)
- Galactokinase deficiency
- Glutaric aciduria type 1 (GA1)
- HMG-CoA-lyase deficiency (HMG)
- Isovaleric acidemia
- Classic galactosemia
- Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
- Maple syrup urine disease (MSUD)
- Medium-chain hydroxyacyl-CoA dehydrogenase deficiency (MCADD)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
- Methylmalonic acidemia (MMA)
- Mucopolysaccharidosis type 1 (MPS I)
- Malonyl-CoA decarboxylase deficiency (MCD)
- Phenylketonoria (PKU)
- Propionic acidemia (PA)
- Tyrosinemia type 1 (TYR-1)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
For more information about the neonatal screening program, we refer you to the RIVM website.