ArticleInternational journal of neonatal screening2021
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
Article in International journal of neonatal screening, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.Journal of inherited metabolic disease · 2025Pooled it
- Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.Journal of clinical immunology · 2025Article
- Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.International journal of neonatal screening · 2025Article
- Expanded Newborn Screening in Italy: The First Report of Lombardy Region.International journal of neonatal screening · 2025Article
- Precision medicine to identify, prevent, and treat pediatric obesity.Pharmacotherapy · 2024Review
- Newborn screening programs for spinal muscular atrophy worldwide in 2023.Journal of neuromuscular diseases · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.International journal of neonatal screening · 2024Article
- Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.International journal of neonatal screening · 2024Article
- Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.International journal of neonatal screening · 2023Article
- A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.International journal of neonatal screening · 2023Article
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.International journal of neonatal screening · 2023Review
- Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.International journal of neonatal screening · 2022Article
- Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.Intractable & rare diseases research · 2022Review
- Editorial: Biomarkers to predict, prevent and find the appropriate treatments of disorders in childhood.Frontiers in pediatrics · 2022Article
- The Editor's Choice for Issue 3, Volume 7.International journal of neonatal screening · 2021Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.
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