{"title":"Fluctuations and Determinants of Amino Acids and Acylcarnitine Species in Newborn Screening by Tandem Mass Spectrometry.","authors":"Zhi-Hui Wan, Bo-Lun Cai, Wei Liu, Yu-Fei Zhao, Li-Fei Gong, Yuan-Yuan Kong, Yan-Hong Zhai, Zheng Cao","doi":"10.1080/15513815.2026.2691894","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the stability of amino acid and acylcarnitine species concentrations in newborn screening and identify factors influencing their variations.</p><p><strong>Methods: </strong>Tandem mass spectrometry screening was performed on 270,791 neonates. Coefficients of variation were calculated, monthly trends analyzed, and seasonal fluctuation reasons explored.</p><p><strong>Results: </strong>Arginine and methionine showed the highest coefficients of variation (28.3% and 13.6%), with distinct seasonal variation-lower in summer and higher in winter, negatively correlated with temperature and humidity.</p><p><strong>Conclusions: </strong>In tandem mass spectrometry-based newborn screening, Arginine and methionine show poor stability with seasonal concentration fluctuations. Establishing season-specific cutoffs may reduce false positives and missed detections.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-8"},"PeriodicalIF":0.8000,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2026.2691894","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Objectives: To evaluate the stability of amino acid and acylcarnitine species concentrations in newborn screening and identify factors influencing their variations.
Methods: Tandem mass spectrometry screening was performed on 270,791 neonates. Coefficients of variation were calculated, monthly trends analyzed, and seasonal fluctuation reasons explored.
Results: Arginine and methionine showed the highest coefficients of variation (28.3% and 13.6%), with distinct seasonal variation-lower in summer and higher in winter, negatively correlated with temperature and humidity.
Conclusions: In tandem mass spectrometry-based newborn screening, Arginine and methionine show poor stability with seasonal concentration fluctuations. Establishing season-specific cutoffs may reduce false positives and missed detections.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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