ArticleJournal of inherited metabolic disease2020
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Article in Journal of inherited metabolic disease, 2020. 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, 35 citations in OpenAlex.
- Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report.Journal of human immunity · 2026Article
- Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.Metabolites · 2025Article
- Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.Molecular genetics & genomic medicine · 2024Article
- Retrospective analysis of reference intervals for dried blood spot based ms/ms newborn screening programs in Chinese preterm neonates: a nationwide study.BMC pediatrics · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.International journal of neonatal screening · 2024Article
- Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies.Diagnostics (Basel, Switzerland) · 2024Article
- The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.Human genomics · 2024Article
- The significance of machine learning in neonatal screening for inherited metabolic diseases.Frontiers in pediatrics · 2024Article
- Article
- Newborn ornithine carbamyltransferase deficiency caused by newTranslational pediatrics · 2023Article
- Late-onset cblC defect: clinical, biochemical and molecular analysis.Orphanet journal of rare diseases · 2023Article
- Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.The American journal of bioethics : AJOB · 2023Article
- Impact of Maternal Lifestyle and Dietary Habits during Pregnancy on Newborn Metabolic Profile.Nutrients · 2023Article
- A retrospective analysis of MS/MS screening for IEM in high-risk areas.BMC medical genomics · 2023Article
- Validation of a targeted metabolomics panel for improved second-tier newborn screening.Journal of inherited metabolic disease · 2023Article
- Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.International journal of neonatal screening · 2023Review
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances.Molecular genetics and metabolism · 2022Article
- dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.International journal of neonatal screening · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Newborn screening (NBS) programmes utilise information on a variety of clinical variables such as gestational age, sex, and birth weight to reduce false-positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen-negative singleton babies (n = 100 000) were analysed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false-positive cases for four metabolic diseases: glutaric acidemia type 1 (GA-1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). In the result, 79% of the metabolic markers (34 of 43) had ethnicity-related differences. Compared to the other groups, Black infants had elevated GA-1 markers (C5DC, Cohen's d = .37, P < .001), Hispanics had elevated MMA markers (C3, Cohen's d = .13, P < .001, and C3/C2, Cohen's d = .27, P < .001); and Whites had elevated VLCADD markers (C14, Cohen's d = .28, P < .001, and C14:1, Cohen's d = .22, P < .001) and decreased OTCD markers (citrulline, Cohen's d = -.26, P < .001). These findings correlated with the higher false-positive rates in Black infants for GA-1, in Hispanics for MMA, and in Whites for OTCD and for VLCADD. Web-based tools are available to analyse ethnicity-related changes in newborn metabolism and to support developing methods to identify false-positives in metabolic screening.
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