Newborn screening aims to prevent 6 rare diseases and permanent deafness. Since its implementation in 1972, more than 37 million children have been screened in France and nearly 30,000 have benefited from rapid care.
From 1is January 2023, the newborn screening will be extended to 7 other diseasesannounced the Minister of Health and Prevention, François Braun, on the occasion of the National Day of the fiftieth anniversary of neonatal screening, on November 18.
What is newborn screening?
Newborn screening aims to identify certain rare diseases in infants at an early stage, even before the first signs appear. The objective: to accompany him as soon as possible and allow him to develop and grow as well as possible while avoiding serious repercussions on his health.
Neonatal screening is systematically organized in the first days of life and concerns all children born in France. A few drops of blood are most often taken from the baby’s heel. Their analysis makes it possible to identify the children probably affected by one of the diseases sought. When this screening is positive, in-depth examinations are carried out to confirm or not the presence of a disease. He makes it known that this screening is free and carried out with the agreement of the parents.
What diseases are screened for in neonatal screening?
From 1is January 2023, screening for 7 new diseases will be integrated into the national program of newborn screening. These are rare diseases for which effective treatments exist, allowing good development of babies and children:
- Homocystinuria: abnormality concerning vitamin B12 characterized by anemia, cerebral neurological damage and sometimes developmental delay;
- Leucinosis: a disease characterized by difficulty in eating, excessively prolonged sleep time, vomiting then neurological cerebral disorders and respiratory failure in the absence of treatment;
- Type 1 tyrosinemia which affects the kidneys and liver;
- Isovaleric aciduria, responsible for acute disorders at birth (vomiting, convulsions) or later disorders (growth and/or development delay);
- Glutaric aciduria type 1 which causes acute neurological disorders in infants;
- Deficiency in 3-hydroxyacyl-coenzyme A dehydrogenase of long-chain fatty acids, characterized by the occurrence in early childhood of hypoglycaemia which can cause liver damage and heart damage;
- Deficiency in carnitine uptake leading to cardiac damage in early childhood, often associated with hypotonia, growth retardation, recurrent hypoglycaemic attacks and/or coma.
These 7 rare diseases will be added to the pathologies already screened:
- for all newborns:
- phenylketonuria,
- congenital hypothyroidism,
- Cystic fibrosis,
- medium chain fatty acid acyl-CoA dehydrogenase (MCAD) deficiency;
- for babies born from 32 weeks of amenorrhea:
- congenital adrenal hyperplasia;
- for newborns in overseas departments and regions, presenting a particular risk of developing it: