Neonatal Screening for Congenital Metabolic and Endocrine Disorders: Results From Germany for the Years 2006-2018.
Background: The purpose of neonatal screening is the early detection of congenital metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long-term adverse sequelae. In Germany, neonatal screening is legally regulated. Quality-assurance reports ("DGNS reports") are...
| Publicado en: | Deutsches Ärzteblatt International Vol. 118; no. 7; pp. 101 - 113 |
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| Autores principales: | , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Deutscher Aerzte-Verlag GmbH
2/19/2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=149748989&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 149748989 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 18660452 5F0N jtl: Deutsches Ärzteblatt International issn: 18660452 maglogo: N pubinfo: dt: 2/19/2021 vid: 118 iid: 7 pid: 25312 pub: Deutscher Aerzte-Verlag GmbH artinfo: ui: 149748989 10.3238/arztebl.m2021.0009 149748989 ppf: 101 ppct: 12 formats: fmt: @attributes: type: P tig: atl: Neonatal Screening for Congenital Metabolic and Endocrine Disorders: Results From Germany for the Years 2006-2018. aug: au: Lüders, Anja Blankenstein, Oliver Brockow, Inken Ensenauer, Regina Lindner, Martin Schulze, Andreas Nennstiel, Uta affil: Bavarian State Office for Health and Food Safety, Health Reporting, Epidemiology, Social Medicine, Child Health, Screening Center, Oberschleißheim sug: ab: Background: The purpose of neonatal screening is the early detection of congenital metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long-term adverse sequelae. In Germany, neonatal screening is legally regulated. Quality-assurance reports ("DGNS reports") are created and published annually by the German Society for Neonatal Screening (Deutsche Gesellschaft für Neugeborenen-Screening). Data from the DGNS reports for the years 2006-2018 serve as the basis of the present publication. Methods: For the years 2006-2018, prevalences were calculated and data on process quality were evaluated. Results: Among 9 218 538 births, 6917 neonates were identified who had one of the target diseases. The overall prevalence was 75 per 100 000 neonates; the disorders most commonly found were congenital hypothyroidism (30 per 100 000) followed by phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCAD) (10 per 100 000 each). Of the 272 205 follow-up screenings requested, 80% were received. The rate of positive screening findings (recall rate) declined over the observation period, from 0.90% in 2006 to 0.37% in 2018. For every five positive screening findings, one case of a target disorder was confirmed. 79% of the children for whom treatment was indicated began to receive treatment within two weeks. Conclusion: The low recall rate and the early initiation of treatment in 79% of the affected children indicate that neonatal screening for metabolic and endocrine disorders in Germany is effective. The incorporation of tracking structures and the introduction of a registry could further improve the quality of the program. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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