Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD
False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS...
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Published in | Molecular genetics and metabolism Vol. 145; no. 4; p. 109183 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.08.2025
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Subjects | |
Online Access | Get full text |
ISSN | 1096-7192 1096-7206 1096-7206 |
DOI | 10.1016/j.ymgme.2025.109183 |
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Abstract | False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood spots (DBS) were analyzed, alongside diagnostic biochemical and DNA testing. A Kruskal Wallis Test with Dunn's post-test was performed to compare the groups. Significant differences in all analyte values were observed among MCADD, carrier and non-carrier groups, and between carriers and non-p.Lys329Glu homozygous MCADD cases. Many false positives were detected due to low DBS C8 cutoff and the second NBS. An analyte algorithm including DBS C8, plasma acylcarnitine C6, and plasma C8/C10 was identified and discriminated MCADD cases from carrier and non-carrier cases. All cases with MCADD were identified on the first NBS demonstrating limited utility of a second NBS for MCADD. |
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AbstractList | False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood spots (DBS) were analyzed, alongside diagnostic biochemical and DNA testing. A Kruskal Wallis Test with Dunn's post-test was performed to compare the groups. Significant differences in all analyte values were observed among MCADD, carrier and non-carrier groups, and between carriers and non-p.Lys329Glu homozygous MCADD cases. Many false positives were detected due to low DBS C8 cutoff and the second NBS. An analyte algorithm including DBS C8, plasma acylcarnitine C6, and plasma C8/C10 was identified and discriminated MCADD cases from carrier and non-carrier cases. All cases with MCADD were identified on the first NBS demonstrating limited utility of a second NBS for MCADD. False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood spots (DBS) were analyzed, alongside diagnostic biochemical and DNA testing. A Kruskal Wallis Test with Dunn's post-test was performed to compare the groups. Significant differences in all analyte values were observed among MCADD, carrier and non-carrier groups, and between carriers and non-p.Lys329Glu homozygous MCADD cases. Many false positives were detected due to low DBS C8 cutoff and the second NBS. An analyte algorithm including DBS C8, plasma acylcarnitine C6, and plasma C8/C10 was identified and discriminated MCADD cases from carrier and non-carrier cases. All cases with MCADD were identified on the first NBS demonstrating limited utility of a second NBS for MCADD.False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood spots (DBS) were analyzed, alongside diagnostic biochemical and DNA testing. A Kruskal Wallis Test with Dunn's post-test was performed to compare the groups. Significant differences in all analyte values were observed among MCADD, carrier and non-carrier groups, and between carriers and non-p.Lys329Glu homozygous MCADD cases. Many false positives were detected due to low DBS C8 cutoff and the second NBS. An analyte algorithm including DBS C8, plasma acylcarnitine C6, and plasma C8/C10 was identified and discriminated MCADD cases from carrier and non-carrier cases. All cases with MCADD were identified on the first NBS demonstrating limited utility of a second NBS for MCADD. |
ArticleNumber | 109183 |
Author | Liu, Ning Wang, Yue Divin, Kristian Ben-Moshe, Yishay Luo, Xi Snyder, Matthew T. Sun, Qin Burrage, Lindsay C. Sutton, V. Reid |
Author_xml | – sequence: 1 givenname: Matthew T. surname: Snyder fullname: Snyder, Matthew T. email: mts5sd@virginia.edu organization: Division of Pediatric Genetics, Department of Pediatrics, University of Virginia, Charlottesville, VA, USA – sequence: 2 givenname: Kristian surname: Divin fullname: Divin, Kristian organization: Texas Children's Hospital, Houston, TX, USA – sequence: 3 givenname: Ning surname: Liu fullname: Liu, Ning organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 4 givenname: Qin surname: Sun fullname: Sun, Qin organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 5 givenname: Yue surname: Wang fullname: Wang, Yue organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 6 givenname: Xi surname: Luo fullname: Luo, Xi organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 7 givenname: Yishay surname: Ben-Moshe fullname: Ben-Moshe, Yishay organization: Texas Children's Hospital, Houston, TX, USA – sequence: 8 givenname: Lindsay C. surname: Burrage fullname: Burrage, Lindsay C. organization: Texas Children's Hospital, Houston, TX, USA – sequence: 9 givenname: V. Reid surname: Sutton fullname: Sutton, V. Reid organization: Texas Children's Hospital, Houston, TX, USA |
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Cites_doi | 10.1016/j.ajhg.2018.11.016 10.1016/j.jpeds.2013.01.002 10.1002/jimd.12368 10.1016/j.jval.2012.02.007 10.1016/j.ymgme.2014.10.007 10.1023/B:BOLI.0000016636.79030.ad 10.1016/j.ymgme.2015.08.011 10.1258/jms.2011.011086 10.1007/s10545-009-9001-1 10.1542/peds.2005-2294 10.3390/ijns6010016 10.1002/jimd.12102 10.1016/j.ymgme.2012.10.016 10.1056/NEJM198811173192003 10.1016/j.ymgme.2015.08.003 10.1001/jama.290.19.2564 10.1016/j.ymgme.2015.08.004 10.1097/GIM.0b013e31820d5e67 10.1093/clinchem/43.11.2106 10.1016/j.ymgme.2010.04.001 10.1097/01.gim.0000204472.25153.8d |
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Keywords | Analyte algorithm False positive Newborn screen Second newborn screen MCADD |
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Snippet | False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies... |
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SubjectTerms | Acyl-CoA Dehydrogenase - blood Acyl-CoA Dehydrogenase - deficiency Acyl-CoA Dehydrogenase - genetics Algorithms Analyte algorithm Carnitine - analogs & derivatives Carnitine - blood Dried Blood Spot Testing False positive False Positive Reactions Female Heterozygote Humans Infant, Newborn Lipid Metabolism, Inborn Errors - blood Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - genetics Male MCADD Neonatal Screening - methods Newborn screen Second newborn screen |
Title | Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD |
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