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[Newborn screening in France: news and perspectives]
Emeline Gernez1, Estelle Roland1, Claire-Marie Dhaenens1
1CHU de Lille, Centre de Biologie Pathologie Génétique, Laboratoire de dépistage périnatal, France.
Insights
Newborn screening in France now includes eight new inherited metabolic diseases, identified using tandem mass spectrometry. This expansion aims to improve early detection and management of these rare conditions.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Context:
- Newborn screening is a critical public health initiative in France, established in 1972.
- The program has progressively expanded to include various genetic and metabolic disorders.
Purpose:
- To detail the recent expansion of the French newborn screening program.
- To introduce eight newly included inherited metabolic diseases and the technology enabling their detection.
Summary:
- France has expanded its newborn screening program to include eight additional inherited metabolic diseases.
- These include aminoacidopathies, organic acidurias, and fatty acid metabolism disorders, detected via tandem mass spectrometry since 2020.
- The diseases covered are tyrosinemia type I, maple syrup urine disease, homocystinuria, isovaleric aciduria, glutaric type I aciduria, MCADD, LCHADD, and primary carnitine deficiency.
Impact:
- Enhances early diagnosis of rare metabolic disorders in newborns.
- Increases public awareness of less common but significant inherited diseases.
- Improves long-term health outcomes for affected children through timely intervention.
Abstract:
Newborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias (isovaleric and glutaric type I acidurias), and disorders of fatty acid metabolism (MCADD, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and primary carnitine deficiency). We briefly present these newly added diseases, of which public awareness is still incomplete.
