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Record W2922227428 · doi:10.1186/s13023-018-0993-1

Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings

2019· article· en· W2922227428 on OpenAlexaffabout
Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn M. Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little, Kumanan Wilson

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsUniversity of OttawaNewborn Screening OntarioChildren's Hospital of Eastern OntarioOttawa Hospital
FundersInternational Centre for Diarrhoeal Disease Research, BangladeshBill and Melinda Gates Foundation
KeywordsMedicineCord bloodNewborn screeningCohortUmbilical cordPediatricsCohort studyHeelObstetricsCordProspective cohort studyDried blood spotSurgeryInternal medicineImmunology

Abstract

fetched live from OpenAlex

BACKGROUND: Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of screen positive determinations as made by a Canadian newborn screening program in a cohort of infants born in Matlab, Bangladesh. Dried newborn cord and heel-prick blood spot samples collected as part of a validation study nested within a preterm birth research cohort were collected between January 2017 and July 2018 and analyzed in a Canadian newborn screening laboratory where the laboratory's disease panel and screening thresholds were applied. RESULTS: A total of 1661 newborn samples (520 heel-prick and 1141 cord blood samples) were available for analysis. Based on the applied screening thresholds, 61 samples (22 by heel-prick and 39 by cord blood) were screen positive for conditions included in the Canadian disease panel. Congenital hypothyroidism was the most common determination for heel-prick (n = 17) and cord blood (n = 12) samples. Carriers of hemoglobinopathy variants were identified in 6.9% of both tested heel-prick and cord blood samples. CONCLUSIONS: This study provides insight into the nature and frequency of treatable congenital conditions in a rural Bangladesh community where such data were previously unavailable. As comment to the feasibility of newborn screening in the region we confirm that screening based on cord blood sampling continues to be the most acceptable modality to parents in such settings. Acknowledged barriers include early infant discharge, which may affect the reliability of initial screening thresholds to determine disease risk. We further highlight the importance of continuing efforts in the country to identify infants with congenital hypothyroidism.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.419
Threshold uncertainty score0.834

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.004
GPT teacher head0.242
Teacher spread0.238 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations13
Published2019
Admission routes2
Has abstractyes

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