[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]

Area of Science:

• Public Health
• Medical Diagnostics
• Genetics

Context:

• The Health Council of the Netherlands has released an advisory report on neonatal screening.
• Current neonatal screening includes phenylketonuria, congenital hypothyroidism, and congenital adrenal hyperplasia.
• Advancements in diagnostics, therapy, and disease prevalence necessitate updated screening protocols.

Purpose:

• To recommend the expansion of the current neonatal screening program.
• To incorporate screening for medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease, and 12 other rare disorders.
• To address the need for improved detection methods for cystic fibrosis before its inclusion.

Summary:

• The advisory report proposes broadening neonatal screening to encompass 15 additional rare conditions.
• These include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease, biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I, and very-long-chain acyl-CoA dehydrogenase deficiency.
• A refined detection method for cystic fibrosis is required prior to its inclusion in screening.

Impact:

• Expanded screening can lead to significantly better health outcomes for affected newborns.
• Early detection of rare disorders allows for timely therapeutic interventions.
• The report emphasizes providing antenatal information on screening and parental carrier detection.