Evidence map›Paper›PMID 40843902›Full record

ReviewInternational journal of neonatal screening2025

Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications.

MacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, Meghan McGarry

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. The redefined identity ofJournal of bacteriology · 2026
    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

4 authors.

MacKenzie WyattDepartment of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.ORCID 0000-0001-9476-0788
Alexandra QuinnDepartment of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
Lincoln ShadeInstitute for Biomedical Informatics, Multidisciplinary Science, University of Kentucky, 725 Rose St Building, Suite 230, Lexington, KY 40536, USA.
Meghan McGarryDepartment of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.

Funding

Risk Factors For Worse Lung Function In Latinos With Cystic FibrosisK23HL133437 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MCGARRY, MEGHAN ELIZABETH · 2018 to 2023
$1.0M
Elucidating Shared Risk of Brain Arteriolosclerosis and Related Pathologies with Multiple 'omics ModalitiesF30NS124136 · NINDS · UNIVERSITY OF KENTUCKY · PI SHADE, LINCOLN · 2022 to 2025
$143k
Cystic Fibrosis Foundation MCGARR16A0Cystic Fibrosis Foundation WYATT24B0National Institute of Neurological Disorders and Stroke (NINDS) F30-NS124136NHLBI NIH HHS K23 HL133437NIH HHS 5K23HL133437-05NINDS NIH HHS F30 NS124136
6 · The paper itself

Abstract

An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS who do not meet the diagnostic criteria for CF (two CF-causing variants and/or sweat chloride > 60 mmol/L). This indeterminate diagnosis is called cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive, inconclusive diagnosis (CFSPID). CRMS/CFSPID occurs when it is not clearly known whether

Indexed as

CF screen positive inconclusive diagnosisCFSPIDCRMSCRMS/CFSPIDcystic fibrosiscystic fibrosis transmembrane conductance regulator genecystic fibrosis transmembrane conductance regulator-related metabolic syndromegenetic testingnewborn screeningsweat chloride

Identifiers

PMID40843902
PMCPMC12372008

What OpenQuestion holds

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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.