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Record W4407061121 · doi:10.1002/pd.6753

Towards a Responsible Implementation of NIPT as a First‐Tier Test in Canada: Decision‐Makers’ Perspectives

2025· article· en· W4407061121 on OpenAlexafffundabout
Marie‐Christine Roy, Marie‐Françoise Malo, Tierry Morel‐Laforce, Vardit Ravitsky, Anne‐Marie Laberge

Bibliographic record

VenuePrenatal Diagnosis · 2025
Typearticle
Languageen
FieldMedicine
TopicPrenatal Screening and Diagnostics
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineSimon Fraser UniversityUniversité de Montréal
FundersCanadian Institutes of Health ResearchGénome QuébecGenome Canada
KeywordsTest (biology)Tier 2 networkTier 1 networkMedicineComputer scienceBiologyTelecommunications

Abstract

fetched live from OpenAlex

OBJECTIVE: To explore decision makers' perspectives on the conditions for a responsible implementation of non-invasive prenatal testing (NIPT) as a first-tier test in Canadian provinces' healthcare systems. METHOD: A qualitative study was conducted with 16 Canadian decision makers who were interviewed between February 2021 and July 2022. After anonymization and transcription, interviews were coded inductively using thematic analysis. RESULTS: Our interviews showed the complexity of the decision making environment regarding prenatal screening funding. Participants agreed that NIPT is superior to maternal serum screening as a first-tier test, but they also recognized that first-tier NIPT has limits and barriers. They described the following conditions for its responsible implementation: (1) need for time and evidence; (2) taking stakeholders' perspectives into account; (3) limit costs for the healthcare system; (4) ensure appropriate logistical conditions and harmonize the test offer; (5) ensure appropriate clinical services; (6) ensure informed consent; (7) ensure the test is presented as an individual choice to avoid eugenic concerns. CONCLUSION: Multiple barriers and issues need to be addressed before moving NIPT from second- to first-tier. Decision makers' perspectives should be contrasted with those of other important stakeholders, including pregnant people, disability advocates and healthcare professionals.

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)0.039
metaresearch head score (Gemma)0.056
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Qualitative · Consensus signal: Qualitative
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.767
Threshold uncertainty score0.890

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0390.056
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.003
Science and technology studies0.0400.022
Scholarly communication0.0130.003
Open science0.0030.007
Research integrity0.0040.007
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 head0.011
GPT teacher head0.304
Teacher spread0.293 · 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 designQualitative
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

Citations1
Published2025
Admission routes3
Has abstractyes

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