ArticleInternational journal of neonatal screening2022
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Article in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Healthcare professionals' perspectives on expanding newborn genomic screening in the emirate of Abu Dhabi, United Arab Emirates: insights from a cross-sectional study.Frontiers in public health · 2026Article
- Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.BMC medical genomics · 2025Article
- Reflections on 50 Years of Cystic Fibrosis Newborn Screening Experience with Critical Perspectives, Assessment of Current Status, and Predictions for Future Improvements.International journal of neonatal screening · 2025Article
- Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Holistic precision wellness: Paving the way for next-generation precision medicine (ngPM) with AI, biomedical informatics, and clinical medicine.FASEB bioAdvances · 2025Article
- Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.International journal of neonatal screening · 2024Article
- Genomic sequencing for newborn screening: current perspectives and challenges.Croatian medical journal · 2024Review
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- 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
- 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
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.Orphanet journal of rare diseases · 2023Article
- Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.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
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Newborn Screening: From the Past to the Future.Turkish archives of pediatrics · 2022Article
- Newborn Screening by Genomic Sequencing: Opportunities and Challenges.International journal of neonatal screening · 2022Article
- Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). Next-generation sequencing (NGS) is expected to have some advantages over the current approach, for example the ability to detect IMDs that meet all screening criteria but lack an identifiable biochemical footprint. We have now designed a technical study to explore the use of NGS techniques as a first-tier approach in NBS. Here, we describe the aim and set-up of the NGS-first for the NBS (NGSf4NBS) project, which will proceed in three steps. In Step 1, we will identify IMDs eligible for NGS-first testing, based on treatability. In Step 2, we will investigate the feasibility, limitations and comparability of different technical NGS approaches and analysis workflows for NBS, eventually aiming to develop a rapid NGS-based workflow. Finally, in Step 3, we will prepare for the incorporation of this workflow into the existing Dutch NBS program and propose a protocol for referral of a child after a positive NGS test result. The results of this study will be the basis for an additional analytical route within NBS that will be further studied for its applicability within the NBS program, e.g., regarding the ethical, legal, financial and social implications.
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Registered trials
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