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Durant toutes ces ann\u00e9es, le nombre de maladies susceptibles d\u2019\u00eatre d\u00e9pist\u00e9es \u00e0 la naissance n\u2019a cess\u00e9 de cro\u00eetre gr\u00e2ce aux possibilit\u00e9s offertes par les progr\u00e8s techniques de la biologie clinique. Le test de Guthrie a permis la miniaturisation du pr\u00e9l\u00e8vement de sang, permettant ainsi le d\u00e9pistage biologique dans la population des nouveau-n\u00e9s. Par la suite, la fluorim\u00e9trie, l\u2019immunoanalyse et, plus r\u00e9cemment, la spectrom\u00e9trie de masse en tandem ont rendu possible le d\u00e9pistage de nombreuses maladies qu\u2019il est possible de traiter. Les nouvelles possibilit\u00e9s de s\u00e9quen\u00e7age du g\u00e9nome et d\u2019intelligence artificielle vont probablement ouvrir une nouvelle \u00e8re, malgr\u00e9 les nombreuses questions \u00e9thiques qui se poseront. Cette revue propose de dresser le panorama des techniques biologiques utilis\u00e9es actuellement pour le d\u00e9pistage n\u00e9onatal et de mettre en perspective la place de nouvelles \u00e9volutions techniques.<\/jats:p>","DOI":"10.1051\/medsci\/2021062","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T07:58:06Z","timestamp":1621324686000},"page":"461-467","source":"Crossref","is-referenced-by-count":2,"title":["Les principaux outils biologiques appliqu\u00e9s au d\u00e9pistage n\u00e9onatal"],"prefix":"10.1051","volume":"37","author":[{"given":"David","family":"Cheillan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1542\/peds.32.3.338","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"R2","unstructured":"Wilson J, Jungner G. 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