June 28, 2021
Neonatal screening, also called newborn screening (NBS), allows the early detection and clinical management of newborns with a range of health conditions.
The date for this international NBS day was chosen in honor of Dr. Robert Guthrie, whose birthday is June 28th. In the United States in the 1960s, Dr Guthrie developed the first NBS test for phenylketonuria (PKU), using a drop of blood collected on blotting paper. This blotting paper technique is still used today in all NBS programs. The blood sample is usually collected in the first 3 days of life from the newborn’s heel, or sometimes from their hand.
Technological advances now allow the screening of up to 50 disorders from just a few dried blood spots! Most of these are congenital metabolic disorders and endocrine disorders.
France was a pioneer in NBS, with the setting up of a national screening program in 1972. Since then, more than 35 million newborns have been screened, allowing earlier management of more than 23,500 individuals. In France, the cost of NBS is 100% covered by the health insurance system. NBS is not mandatory, but “refusing screening would be highly detrimental for the child” (Haute Autorité de Santé, HAS).
Six rare diseases are currently screened as part of the NBS program in France: phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell disease (SCD; overseas, and in mainland France if risk factors identified), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF) , and medium-chain acyl-CoA dehydrogenase deficiency. However, this is much fewer than the more than 20 diseases screened in some European countries, such as in Italy where the NBS program includes up to 31 diseases!
The HAS recommends adding 7 inborn errors of metabolism to the French national NBS program: maple syrup urine disease (MSUD), homocystinuria (HCY), type 1 tyrosinemia (TYR-1), type 1 glutaric aciduria (GA-1), isovaleric acidemia (IVA), long chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and carnitine uptake defect (CUD).