ArticleDeutsches Arzteblatt international2021
Neonatal Screening for Congenital Metabolic and Endocrine Disorders—Results From Germany for the Years 2006–2018.
Article in Deutsches Arzteblatt international, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.International journal of neonatal screening · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.International journal of neonatal screening · 2024Article
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Human genomics · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Up-to-date quality survey and evaluation of neonatal screening programs in China.BMC pediatrics · 2024Article
- [Newborn blood spot screening (NBS) in Germany : Status quo and presentation of a concept for further development].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.International journal of neonatal screening · 2023Article
- Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.International journal of neonatal screening · 2023Review
- Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.Journal of clinical medicine · 2023Article
- Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.Journal of neuromuscular diseases · 2023Article
- The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.JIMD reports · 2022Article
- Congenital hypothyroidism in India: A systematic review and meta-analysis of prevalence, screen positivity rates, and etiology.The Lancet regional health. Southeast Asia · 2022Article
- Target Diseases for Neonatal Screening in Germany.Deutsches Arzteblatt international · 2022Review
- Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Review
- The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.Frontiers in genetics · 2022Article
- Support Deficit in Adulthood.Deutsches Arzteblatt international · 2021Article
- Use Existing Registry.Deutsches Arzteblatt international · 2021Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.