Evidence map›Paper›PMID 40660651›Full record

ArticleMolecular genetics and metabolism2025

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.

Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Matthew T SnyderDivision of Pediatric Genetics, Department of Pediatrics, University of Virginia, Charlottesville, VA, USA. Electronic address: mts5sd@virginia.edu.
Kristian DivinTexas Children's Hospital, Houston, TX, USA.
Ning LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA.
Qin SunDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA.
Yue WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA.
Xi LuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA.
Yishay Ben-MosheTexas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lindsay C BurrageTexas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
V Reid SuttonTexas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Funding

MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4M
NIGMS NIH HHS T32 GM007526
6 · The paper itself

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.

Indexed as

Acyl-CoA DehydrogenaseAlgorithmsLipid Metabolism, Inborn ErrorsNeonatal ScreeningCarnitineDried Blood Spot TestingFalse Positive ReactionsFemaleHeterozygoteHumansInfant, NewbornMaleacylcarnitineAcyl-CoA DehydrogenaseCarnitineAnalyte algorithmFalse positiveMCADDNewborn screenSecond newborn screen

Identifiers

PMID40660651
PMCPMC12414245

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.