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Neonatal Screening for Congenital Metabolic and Endocrine Disorders—Results From Germany for the Years 2006–2018
Anja Lüders1, Oliver Blankenstein, Inken Brockow
1Bavarian 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.
Insights
German neonatal screening effectively detects metabolic and endocrine disorders, with 79% of affected infants starting treatment within two weeks. Improvements in tracking and registries can further enhance this vital public health program.
Area of Science:
- Medical screening
- Public health
- Pediatrics
Background:
- Neonatal screening aims for early detection of congenital metabolic and endocrine disorders.
- German neonatal screening is legally regulated and quality-assured by the German Society for Neonatal Screening (DGNS).
- This study analyzes DGNS report data from 2006-2018.
Purpose of the Study:
- To evaluate the prevalence of target disorders in German neonates.
- To assess the process quality of the national neonatal screening program.
- To determine the effectiveness of early detection and treatment initiation.
Main Methods:
- Analysis of prevalence data for congenital metabolic and endocrine disorders.
- Evaluation of process quality indicators, including follow-up screening rates and recall rates.
- Assessment of treatment initiation timeliness.
Main Results:
- Overall prevalence of target disorders was 75 per 100,000 neonates.
- Congenital hypothyroidism, phenylketonuria (PKU), and MCAD deficiency were most common.
- Recall rate decreased from 0.90% to 0.37%; 79% of affected children started treatment within two weeks.
Conclusions:
- Neonatal screening in Germany is effective in early detection and treatment initiation.
- A low recall rate and timely treatment underscore program efficacy.
- Enhanced tracking systems and a registry could further improve screening quality.
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.
