{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:24:40Z","timestamp":1790792680208,"version":"4.1.0"},"reference-count":32,"publisher":"EDP Sciences","issue":"5","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Le d\u00e9pistage n\u00e9onatal a d\u00e9but\u00e9 en Europe dans les ann\u00e9es 1960 avec celui de la ph\u00e9nylc\u00e9tonurie. Le nombre de maladies d\u00e9pist\u00e9es a, par la suite, augment\u00e9 progressivement, de mani\u00e8re plus marqu\u00e9e \u00e0 la fin des ann\u00e9es 1990 avec l\u2019arriv\u00e9e de la spectrom\u00e9trie de masse en tandem (MS\/MS) qui a permis le d\u00e9pistage de 40 \u00e0 50 maladies sur une seule goutte de sang s\u00e9ch\u00e9. Les ajouts les plus r\u00e9cents \u00e0 cette liste de maladies (mucoviscidose, d\u00e9ficits immunitaires combin\u00e9s s\u00e9v\u00e8res et atrophie musculaire spinale) ont \u00e9t\u00e9 rendus possibles gr\u00e2ce \u00e0 la g\u00e9n\u00e9tique mol\u00e9culaire. \u00c0 partir des informations provenant de 51 pays d\u2019Europe, nous d\u00e9crivons dans cette revue l\u2019\u00e9volution du d\u00e9pistage entre 2010 et 2020, ainsi que les progr\u00e8s r\u00e9alis\u00e9s pendant cette p\u00e9riode, tout en soulignant les aspects qui m\u00e9ritent d\u2019\u00eatre am\u00e9lior\u00e9s. Des progr\u00e8s pourront en effet \u00eatre accomplis gr\u00e2ce aux \u00e9changes d\u2019informations et, pour certains pays, en tirant profit de l\u2019exp\u00e9rience acquise dans des pays voisins. La plupart des programmes de d\u00e9pistage mis en place dans l\u2019Europe \u00ab g\u00e9ographique \u00bb au cours de cette p\u00e9riode ont gagn\u00e9 en maturit\u00e9 en termes m\u00e9thodologiques (modernisation des techniques) et en termes quantitatifs (augmentation du nombre des maladies d\u00e9pist\u00e9es). Ces d\u00e9veloppements nous montrent que la collaboration entre les diff\u00e9rentes organisations s\u2019acc\u00e9l\u00e8re en Europe. Ce n\u2019est qu\u2019en travaillant ensemble que nous pourrons identifier en temps opportun les nouveau-n\u00e9s atteints d\u2019une des nombreuses maladies rares d\u00e9tectables et prendre les mesures qui s\u2019imposent.<\/jats:p>","DOI":"10.1051\/medsci\/2021059","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T07:58:06Z","timestamp":1621324686000},"page":"441-456","source":"Crossref","is-referenced-by-count":9,"title":["D\u00e9pistage n\u00e9onatal en Europe"],"prefix":"10.1051","volume":"37","author":[{"given":"J. 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