ArticleScientific reports2017
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Using dried blood spot samples from a trio for linked-read whole-exome sequencing.European journal of human genetics : EJHG · 2019Trial
- 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
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.JAMA network open · 2025Article
- Population-based, first-tier genomic newborn screening in the maternity ward.Nature medicine · 2025Article
- Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.International journal of neonatal screening · 2024Article
- Utility of an Archival Dried Blood Spot (DBS) Collection from HIV-Infected Individuals with and without Cancer in a Resource-Limited Setting.International journal of molecular sciences · 2024Article
- Potential for and challenges of menstrual blood as a non-invasive diagnostic specimen: current status and future directions.Annals of medicine and surgery (2012) · 2024Review
- Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.Molecular genetics and metabolism reports · 2024Article
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.International journal of neonatal screening · 2024Article
- Parental Preferences for Expanded Newborn Screening: What Are the Limits?Children (Basel, Switzerland) · 2023Article
- Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.Genome medicine · 2023Article
- Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.International journal of neonatal screening · 2022Article
- A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.Genes · 2021Article
- Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing.International journal of neonatal screening · 2021Article
- Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.International journal of molecular sciences · 2021Article
- Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.International journal of neonatal screening · 2021Article
- Genetic testing for unexplained perinatal disorders.Current opinion in pediatrics · 2021Review
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes related to NBS. Results were compared to the known pathogenic mutations previously identified by Sanger sequencing. Causal mutations were readily characterized, and multiple polymorphisms have been identified. According to variant database prediction, an unexplained homozygote pathogenic mutation, unrelated to patient's disorder, was also found in one sample. While amount and quality of DBS-extracted DNA are adequate to identify causal mutations by NGS, bioinformatics analysis revealed critical drawbacks: coverage fluctuations between regions, difficulties in identifying insertions/deletions, and inconsistent reliability of database-referenced variants. Nevertheless, results of this study lead us to consider future perspectives regarding "next-generation" NBS.
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