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Record W4407640028 · doi:10.1136/medhum-2024-013188

Parental perspectives of trisomy 18: common threads of a life-limiting diagnosis

2025· article· en· W4407640028 on OpenAlexafffund
Evelyn Armour, Melissa J MacPherson, Cheryl Mack, Michael van Manen

Bibliographic record

VenueMedical Humanities · 2025
Typearticle
Languageen
FieldMedicine
TopicEthics and Legal Issues in Pediatric Healthcare
Canadian institutionsUniversity of Alberta
FundersAlberta Innovates - Health Solutions
KeywordsNarrativeTrisomyContext (archaeology)Health carePsychological interventionPsychologyPregnancyPalliative careMedicineFocus groupDevelopmental psychologyPediatricsNursingSociologyGenetics

Abstract

fetched live from OpenAlex

There is a narrative told among healthcare providers that the public stories of trisomy 18 do not reflect the experiences of the many families navigating this diagnosis. This is in the context of a recognised paradigm shift occurring in the treatment of children born with trisomy 18 from one focused solely on comfort to one that considers the potential of medical-surgical interventions to afford survival. This study aims to elicit and explore phenomenologically parents' narratives of trisomy 18. The focus is on the full spectrum of trisomy 18: whether it was diagnosed before or after birth, whether the child's life was of short or long duration and whether invasive or palliative care was sought. While trisomy 18 was not univocal of the children's stories, as a focus of this qualitative inquiry unified them. Healthcare providers may benefit from understanding how trisomy 18 may affect a particular diagnosis experience, whether made during pregnancy or the days after birth when parents are still getting to know their child. As parents live with this diagnosis, pregnancy and the life of their child may be shaped by an uncertainty of a life-limiting condition, whereby care is bounded by what is and is not possible. And, we may appreciate how trisomy 18 imparts meanings on ordinary and extraordinary moments for children and their families in a recognisable form. The understandings gained from this research may support healthcare professionals' reflective clinical practices as they care for children and their families affected by this diagnosis.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.530
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.064
GPT teacher head0.387
Teacher spread0.323 · 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 teacher head, not a consensus.

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

Citations3
Published2025
Admission routes2
Has abstractyes

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