{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T00:25:27Z","timestamp":1698971127219},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:00:00Z","timestamp":1697155200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:00:00Z","timestamp":1697155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Justus-Liebig-Universit\u00e4t Gie\u00dfen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Bundesgesundheitsbl"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:sec>\n                <jats:title>Hintergrund<\/jats:title>\n                <jats:p>Zum 01.09.2016 wurde das Neugeborenenscreening (NGS) auf Mukoviszidose (Cystic Fibrosis\u00a0\u2013 CF) in Deutschland eingef\u00fchrt. Bisher gibt es keinen epidemiologischen Goldstandard f\u00fcr die Erfassung der Diagnosezahlen. Daher werden Daten der in der Konfirmationsdiagnostik best\u00e4tigten F\u00e4lle der Deutschen Gesellschaft f\u00fcr Neugeborenenscreening (DGNS) und die Diagnoseh\u00e4ufigkeiten des Deutschen Mukoviszidoseregisters (DMR) gegen\u00fcbergestellt. Dies kann auch die Evaluation des CF-Screenings unterst\u00fctzen. Ziel der Arbeit ist es, die Daten der DGNS und des DMR zu vergleichen und Limitationen sowie St\u00e4rken dieser Datenquellen darzustellen.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methoden<\/jats:title>\n                <jats:p>Analysiert werden die Mukoviszidose-Diagnosedaten der DGNS (Datenstand 14.04.2023) und des DMR (Datenstand 12.04.2023) f\u00fcr 2017\u20132021 geborene Kinder im Hinblick auf H\u00e4ufigkeiten, Anzahl falsch-negativ Gescreenter und Verh\u00e4ltnis CF zu \u201eF\u00e4llen mit positivem Mukoviszidosescreening und unklarer Konfirmationsdiagnostik\u201c (CFSPID).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Ergebnisse<\/jats:title>\n                <jats:p>Der DGNS liegen 767 Datens\u00e4tze von Neugeborenen mit CF\/CFSPID vor, dem DMR 910 best\u00e4tigte Diagnosef\u00e4lle CF\/CFSPID. Ein falsch-negatives Screening wird von der DGNS f\u00fcr 37\/767 (4,8\u202f%) und vom DMR f\u00fcr 49\/910 (5,4\u202f%) berichtet. Das Verh\u00e4ltnis von CF zu CFSPID betr\u00e4gt 17,4:1 (DGNS, 2017\u20132020) bzw. 28,1:1 (DMR).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Diskussion<\/jats:title>\n                <jats:p>Die DGNS und das DMR liefern bei unterschiedlichen St\u00e4rken in der Dokumentation der Screening-(DGNS) und Diagnosedaten (DMR) wichtige Anhaltspunkte f\u00fcr die Anzahl neu diagnostizierter Mukoviszidosepatienten nach Einf\u00fchrung des NGS. Gesetzliche Vorgaben zur Nachverfolgung der Gescreenten und Erfassung aller Kinder mit Mukoviszidose sowie der Datenaustausch zwischen DGNS und DMR k\u00f6nnten zuk\u00fcnftig die Evaluation verbessern.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00103-023-03778-1","type":"journal-article","created":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T07:02:26Z","timestamp":1697180546000},"page":"1243-1248","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Vergleich von Diagnosedaten nach der Einf\u00fchrung des Mukoviszidosescreenings bei Neugeborenen in Deutschland","Comparison of diagnostic data after introduction of cystic fibrosis screening in newborns in Germany"],"prefix":"10.1007","volume":"66","author":[{"given":"Lutz","family":"N\u00e4hrlich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inken","family":"Brockow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,13]]},"reference":[{"key":"3778_CR1","doi-asserted-by":"publisher","first-page":"564","DOI":"10.3238\/arztebl.2017.0564","volume":"114","author":"S Naehrig","year":"2017","unstructured":"Naehrig\u00a0S, Chao\u00a0CM, Naehrlich\u00a0L (2017) Cystic fibrosis. Dtsch \u00c4rztebl Int 114:564\u2013574. https:\/\/doi.org\/10.3238\/arztebl.2017.0564","journal-title":"Dtsch \u00c4rztebl Int"},{"key":"3778_CR2","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1016\/j.jcf.2021.10.007","volume":"21","author":"O Sommerburg","year":"2022","unstructured":"Sommerburg\u00a0O, Stahl\u00a0M, Hammerling\u00a0S et al (2022) Final results of the southwest German pilot study on cystic fibrosis newborn screening\u2014Evaluation of an IRT\/PAP protocol with IRT-dependent safety net. J\u00a0Cyst Fibros 21:422\u2013433. https:\/\/doi.org\/10.1016\/j.jcf.2021.10.007","journal-title":"J Cyst Fibros"},{"key":"3778_CR3","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1016\/j.jcf.2022.09.012","volume":"22","author":"A Munck","year":"2023","unstructured":"Munck\u00a0A, Berger\u00a0DO, Southern\u00a0KW et\u00a0al (2023) European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance. J\u00a0Cyst Fibros 22:484\u2013495. https:\/\/doi.org\/10.1016\/j.jcf.2022.09.012","journal-title":"J Cyst Fibros"},{"key":"3778_CR4","unstructured":"N\u00e4hrlich L, Burkhart M, Wosniok J (2022) Deutsches Mukoviszidoseregister \u2013 Berichtsband 2021. https:\/\/www.muko.info\/fileadmin\/user_upload\/was_wir_tun\/register\/berichtsbaende\/berichtsband_2021.pdf. Zugegriffen: 19. Juni 2023"},{"key":"3778_CR5","unstructured":"Gemeinsamer Bundesausschuss (2016) Kinder-Richtlinie: Formale und inhaltliche \u00dcberarbeitung (Neustrukturierung) \u2013 Neufassung. https:\/\/www.g-ba.de\/informationen\/beschluesse\/2287\/. Zugegriffen: 1. Aug. 2023"},{"key":"3778_CR6","unstructured":"Brockow I, Blankenstein O, Ceglarek U et\u00a0al (2022) Nationaler Screeningreport 2020. https:\/\/www.screening-dgns.de\/Pdf\/Screeningreports\/DGNS-Screeningreport-d_2020.pdf. Zugegriffen: 1. Aug. 2023"},{"key":"3778_CR7","unstructured":"Mukoviszidose e.\u202fV. 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Er erh\u00e4lt institutionsgebundene Zuwendungen f\u00fcr die Teilnahme an klinischen Zulassungsstudien von Vertex Pharmaceuticals und Enanta. I.\u00a0Brockow ist Sachbereichsleiterin des Sachbereichs GP1.1 \u201eKindergesundheit\u201c des Sachgebiets GP1 im Bayerischen Landesamt f\u00fcr Gesundheit und Lebensmittelsicherheit (LGL) und Leiterin der AG \u201eDaten der DGNS\u201c. Es bestehen keine Interessenkonflikte.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"Die personenbezogenen Daten des Deutschen Mukoviszidoseregisters wurden im Einklang mit nationalen Datenschutzgesetzen und der Deklaration Helsinki von 1975 (in der aktuellen, \u00fcberarbeiteten Fassung), mit Zustimmung der Ethik-Kommission der Justus-Liebig-Universit\u00e4t Gie\u00dfen, FB Medizin (AZ 24\/19) und mit schriftlichem Einverst\u00e4ndnis aller Erziehungsberechtigten der beteiligten Patientinnen und Patienten erfasst und ausgewertet. Die Daten der DGNS werden mit Einverst\u00e4ndnis der Erziehungsberechtigten f\u00fcr die beteiligten Neugeborenen, im Einklang mit nationalen Datenschutzgesetzen und der Deklaration Helsinki von 1975 (in der aktuellen, \u00fcberarbeiteten Fassung) und im Rahmen der vom Gemeinsamen Bundesausschuss vorgegebenen Qualit\u00e4tssicherung erfasst und ausgewertet.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}