In France newborn screening concerns five diseases. But the CHUs of Caen and Lyon have added one. This initiative is not unanimous.
The texts. Each year 800,000 babies are born in France. Currently, 5 or 6 diseases are detected by organized newborn screening. Launched in the 1970s, today this systematic screening makes it possible to search for rare diseases such as sickle cell anemia, congenital adrenal hyperplasia, hypothyroidism, phenylketonuria and even cystic fibrosis since 2002.
The subject. Since December 2008 and April 2009, the CHUs of Lyon (Rhône) and Caen (Calvados) have been testing a new neonatal screening technique extended to an additional disease. This is MCAD deficiency, one of the causes of sudden infant death syndrome. This tandem mass spectrometry (MS-MS) allows rapid analysis of large series of very specific samples. Thanks to it, it would now be possible to considerably increase the number of detectable diseases, up to fifty from a single drop of blood.
Prof. Georges Travert, CHU de Caen: “Detect diseases for which early treatment brings benefit”.
Debate. In Germany or Canada, this same technique already makes it possible to detect around twenty diseases in a systematic way, so why is France not doing it? Both ethical and economic problems arise in the face of the generalization of this extended screening. Indeed, no treatment exists to date to treat most of the diseases detectable by MS-MS. So is it necessary to teach parents that their newborn baby can eventually develop a disease, if there is no way to treat it. As for the diseases for which treatments exist, these are often expensive and will social security follow?
Future. The experimentation at the Lyon (Rhône) and Caen (Calvados) CHUs should last from 18 months to 2 years. To hope to one day achieve a generalization of this extended screening, the approval of the High Authority for Health (HAS) and the health insurance would be necessary, without forgetting the consultation of the Consultative Ethics Committee (CCNE) which has already expressed reservations in the past.
Numbers
– 14,000 people were able to escape a disability or even death thanks to newborn screening, according to AFDPHE *.
– 1 / 15,000 births of children suffering from hyperphenylalaninemia each year.
– 1 / 18,000 births of children suffering from congenital hyperplasia each year.
– 1/3000 births of children suffering from congenital hypothyroidism each year.
– 1/700 births of children suffering from sickle cell disease each year.
– 1 / 5,000 births of children suffering from cystic fibrosis each year.
– 817,388 newborns screened in 2004. In total, one in 946 newborns was spotted. The average cost of this multi-screening was 8.54 euros per newborn.
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