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Seit Beginn sind so etwa 35\u202fMio. Kinder untersucht worden.<\/jats:p><jats:p>Anfangs ging es nur um die Fr\u00fcherkennung der Phenylketonurie, die ohne fr\u00fchzeitige Behandlung zu nicht mehr korrigierbarer geistiger Behinderung f\u00fchrt. Der bakteriologische Guthrie-Test erlaubte den Nachweis erh\u00f6hter Konzentrationen von Phenylalanin. Die heute eingesetzten Methoden sind das Ergebnis einer \u00fcber Jahrzehnte verlaufenden Entwicklung. Hinzugekommen sind Tests zur Bestimmung von Enzymaktivit\u00e4ten, Immunoassays zur Fr\u00fcherkennung wichtiger hormoneller St\u00f6rungen wie der angeborenen Schilddr\u00fcsenunterfunktion sowie Hochdruck-Fl\u00fcssigkeits-Chromatografie zur Identifizierung pathologischer H\u00e4moglobine. Die sehr anspruchsvolle Tandem-Massenspektrometrie erm\u00f6glicht die gleichzeitige Erfassung von Aminos\u00e4uren und Derivaten organischer S\u00e4uren und Fetts\u00e4uren. Auch Steroide k\u00f6nnen damit identifiziert werden. Die Spezifit\u00e4t l\u00e4sst sich durch Kombination mit chromatografischer Vortrennung noch erh\u00f6hen. In den letzten Jahren wurden die chemisch-analytischen Untersuchungen erg\u00e4nzt durch gendiagnostische Verfahren, wie beispielsweise quantitative oder qualitative Polymerasekettenreaktion (PCR).<\/jats:p><jats:p>Der Stand der Labortechnik ist keineswegs endg\u00fcltig. Sowohl die klassische Analytik als auch besonders die genetischen Verfahren stehen vor einer weiteren rasanten Entwicklung. W\u00e4hrend die Ausweitung des Screenings auch eine Folge der technischen Entwicklung ist, h\u00e4ngt die Einbeziehung weiterer angeborener Erkrankungen grunds\u00e4tzlich von einer jeweiligen Therapie ab. Aber gerade hier werden gegenw\u00e4rtig viele Neuerungen erprobt. Im Vordergrund des Interesses steht dabei die Gentherapie.<\/jats:p>","DOI":"10.1007\/s00103-023-03774-5","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T16:02:45Z","timestamp":1697126565000},"page":"1214-1221","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Entwicklung der Analytik im Neugeborenen-Screening\u00a0\u2013 Von der Guthrie-Karte zur Genetik","Development of analytics in newborn screening\u2014from the Guthrie card to genetics"],"prefix":"10.1007","volume":"66","author":[{"given":"Nils","family":"Janzen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Sander","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,12]]},"reference":[{"key":"3774_CR1","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.m2022.0075","author":"U Spiekerk\u00f6tter","year":"2022","unstructured":"Spiekerk\u00f6tter\u00a0U, Krude\u00a0H (2022) Target diseases for neonatal screening in Germany\u2014challenges for treatment and long-term care. 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