ArticleOrphanet journal of rare diseases2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 3 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled 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
- Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Orphanet journal of rare diseases · 2023Pooled it
- Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.Annals of medicine · 2026Article
- Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.Biochemia medica · 2026Review
- Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.Children (Basel, Switzerland) · 2026Article
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.International journal of neonatal screening · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.World journal of pediatrics : WJP · 2026Review
- Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA.Frontiers in genetics · 2026Article
- Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.Orphanet journal of rare diseases · 2025Article
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Holistic precision wellness: Paving the way for next-generation precision medicine (ngPM) with AI, biomedical informatics, and clinical medicine.FASEB bioAdvances · 2025Article
- Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.BMJ medicine · 2025Article
- Brain morphometry in hepatic Wilson disease patients.Journal of inherited metabolic disease · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNewborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we sought to assess the feasibility of further improving the screening using next-generation sequencing technology.
methodsWe designed a newborn genetic sequencing (NBGS) panel based on multiplex PCR and next generation sequencing to analyze 134 genes of 74 inborn disorders, that were validated in 287 samples with previously known mutations. A retrospective cohort of 4986 newborns was analyzed and compared with the biochemical results to evaluate the performance of this panel.
resultsThe accuracy of the panel was 99.65% with all samples, and 154 mutations from 287 samples were 100% detected. In 4986 newborns, a total of 113 newborns were detected with biallelic or hemizygous mutations, of which 36 newborns were positive for the same disorder by both NBGS and conventional NBS (C-NBS) and 77 individuals were NBGS positive/C-NBS negative. Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson's disease. A total of 1326 newborns were found to be carriers with an overall carrier rate of 26.6%.
conclusionAnalysis based on next generation sequencing could effectively identify neonates affected with more congenital disorders. Combined with C-NBS, this approach may improve the early and accurate identification of neonates with inborn disorders. Our study lays the foundation for prospective studies and for implementing NGS-based analysis in NBS.
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