ArticleJournal of inherited metabolic disease2017
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 44 citations in OpenAlex.
- 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
- A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.International journal of neonatal screening · 2025Article
- Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.Journal of inherited metabolic disease · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?International journal of neonatal screening · 2024Review
- Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.European journal of neurology · 2024Article
- Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.Journal of medical genetics · 2023Article
- [Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol.Frontiers in genetics · 2023Article
- Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.Orphanet journal of rare diseases · 2022Review
- Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.Intractable & rare diseases research · 2022Review
- Analysis of a family with mitochondrial trifunctional protein deficiency caused byMolecular medicine reports · 2022Article
- Article
- Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- [Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]Revista espanola de salud publica · 2020Article
- Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.International journal of neonatal screening · 2020Article
- Article
- Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.International journal of neonatal screening · 2019Article
- Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.Journal of human genetics · 2019Review
- Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.Molecular genetics and metabolism reports · 2018Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThere is no universal consensus of the disorders included in newborn screening programs. Few studies so far, mostly short-term, have compared the outcome of disorders detected by expanded newborn screening (ENBS) to the outcome of the same disorders detected clinically.
methodsWe compared the clinical and neurodevelopmental outcomes in patients with metabolic disorders detected by ENBS, including biotinidase testing, with those detected clinically and followed at the Metabolism Clinic at Boston Children's Hospital.
resultsOne hundred eighty-nine patients came to attention from ENBS and 142 were clinically diagnosed. 3-methylcrotonyl-CoA carboxylase, biotinidase, and carnitine deficiencies were exclusively identified by ENBS and medium chain acyl-CoA dehydrogenase (MCADD) and very long chain acyl-CoA dehydrogenase deficiencies (VLCADD) were predominantly identified by ENBS whereas the organic acid disorders more often came to attention clinically. Only 2% of the ENBS-detected cases had clinically severe outcomes compared to 42% of those clinically detected. The mean IQ score was 103 + 17 for the ENBS-detected cases and 77 + 24 for those clinically detected. Those newly included disorders that seem to derive the greatest benefit from ENBS include the fatty acid oxidation disorders, profound biotinidase deficiency, tyrosinemia type 1, and perhaps carnitine deficiency.
conclusionAlthough the NBS-identified and clinically-identified cohorts were not completely comparable, this long-term study shows likely substantial improvement overall in the outcome of these metabolic disorders in the NBS infants. Infants with mild disorders and benign variants may represent a significant number of infants identified by ENBS. The future challenge will be to unequivocally differentiate the disorders most benefitting from ENBS and adjust programs accordingly.
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