Evidence map›Paper›PMID 36547379›Full record

ReviewInternational journal of neonatal screening2022

Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.

Michael H Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong and 16 more

Open access · goldAbstract readReview
In one paragraph

Review in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
5.5field-weighted citation impact, top 3% of its field
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

22 citing papers in PubMed, 42 citations in OpenAlex.

  1. Review
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  4. RPLC- and HILIC-based non-targeted metabolomics workflow for blood microsamples.Metabolomics : Official journal of the Metabolomic Society · 2026
    Article
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  18. [Development of analytics in newborn screening-from the Guthrie card to genetics].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023
    Review
  19. Article
  20. Review
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

26 authors at 14 institutions in 5 countries.

Michael H GelbDepartments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
Khaja BasheeruddinNewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Alberto BurlinaDivision of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35128 Padova, Italy.ORCID 0000-0001-7724-137X
Hsiao-Jan ChenThe Chinese Foundation of Health, Neonatal Screening Center, Taipei 110, Taiwan.
Yin-Hsiu ChienDepartment of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.ORCID 0000-0001-8802-5728
George DizikesTennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USA.
Christine DorleyTennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USA.ORCID 0000-0002-7924-8521
Roberto GiuglianiDepartment of Genetics UFRGS, Medical Genetics Service, HCPA, DASA and Casa dos Raros, Porto Alegre 91501970, Brazil.ORCID 0000-0001-9655-3686
Amy HietalaNewborn Screening Laboratory, Minnesota Department of Health, St. Paul, MN 55164, USA.
Xinying HongDepartments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
Shu-Min KaoThe Chinese Foundation of Health, Neonatal Screening Center, Taipei 110, Taiwan.
Hamid KhalediGelbChem LLC, 4000 Mason Road, #300, Seattle, WA 98105, USA.
Tracy KlugMissouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102, USA.
Francyne KubaskiDepartment of Genetics UFRGS, Medical Genetics Service, HCPA, DASA and Casa dos Raros, Porto Alegre 91501970, Brazil.ORCID 0000-0002-9330-0154
Hsuan-Chieh LiaoDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Monica MartinWadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USA.
Adrienne ManningConnecticut Department of Public Health, Katherine A. Kelley Public Health Laboratory, Rocky Hill, CT 06067, USA.
Joseph OrsiniWadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USA.
Yin PengNewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA.
Enzo RanieriGenetics and Molecular Pathology, SA Pathology (WCH Site), Adelaide 5043, Australia.
Andreas RohrwasserUtah Department of Health and Human Services, Salt Lake City, UT 84129, USA.
Nicolas Szabo-FresnaisUtah Department of Health and Human Services, Salt Lake City, UT 84129, USA.
Coleman T TurgeonDepartment of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55902, USA.
Frédérick M VazLaboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands.
Li-Yun WangTaipei Institute of Pathology, Taipei 103, Taiwan.
Dietrich MaternDepartment of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55902, USA.ORCID 0000-0001-6298-4138
University of Washington · USIllinois Department of Public Health · USMayo Clinic · USNew York State Department of Health · USTennessee Department of Health · USUniversidade Federal do Rio Grande do Sul · BRUtah Department of Health · USAmsterdam UMC Location University of Amsterdam · NLConnecticut Department of Public Health · USMinnesota Department of Health · USMissouri Department of Health and Senior Services · USNational Taiwan University Hospital · TWSouth Australia Pathology · AUTaipei Institute of Pathology · TW

Funding

Multiplex Analysis of Inborn Errors of MetabolismR01DK067859 · NIDDK · UNIVERSITY OF WASHINGTON · PI GELB, MICHAEL H · 2003 to 2025
$9.8M
NIH HHS R01 DK067859
6 · The paper itself

Abstract

Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.

Indexed as

dried blood spotsinborn errors of metabolismliquid chromatographynewborn screeningreflex testingtandem mass spectrometry

Identifiers

PMID36547379
PMCPMC9781967
OpenAlexW4310148148

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.