• Anja Lüders, Oliver Blankenstein, Inken Brockow, Regina Ensenauer, Martin Lindner, Andreas Schulze, Uta Nennstiel, and the screening laboratories in Germany.
• Bavarian State Office for Health and Food Safety: Health Reporting, Epidemiology, Social Medicine, Child Health, Screening Center, Oberschleißheim; Institute for Experimental Pediatric Endocrinology, Charité-University Medical Center Berlin; Department of Child Nutrition, Federal Research Institute of Nutrition and Food, Max Rubner Institute, Karlsruhe; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf; The Hospital for Sick Children and University of Toronto, Canada; Neonatal Metabolic Screening, Hessian Center for Preventive Care in Children, Screening Center; Hesse, University Hospital Frankfurt/Main.
• Dtsch Arztebl Int. 2021 Feb 19; 118 (7): 101108101-108.

BackgroundThe 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.MethodsFor the years 2006-2018, prevalences were calculated and data on process quality were evaluated.ResultsAmong 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.ConclusionThe 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.

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