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Record W4412657710 · doi:10.1186/s13023-025-03913-y

Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study

2025· article· en· W4412657710 on OpenAlexaffabout
Arda Arduç, Julia Slootbeek, Johanna I.P. de Vries, Maria B. Tan-Sindhunata, Femke Stoelinga, Bonita Sawatzky, Isabel Filges, Ingeborg H. Linskens

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsArthrogryposis multiplex congenitaMedicineCaesarean sectionPregnancyFamily medicineChildbirthObstetricsGynecologyArthrogryposis

Abstract

fetched live from OpenAlex

BACKGROUND: Pre-pregnancy counselling in women with Arthrogryposis Multiplex Congenita (AMC) is not implemented as standard care. Prior surveys revealed that the majority of adults with AMC live independently with or without support, are working, and engage in social actifities. Although many of them underwent pregnancies, literature is scarce concerning women with AMC and pregnancies. This study enquires information of women with AMC and their preferences to optimize counselling and guidance concerning aspects related to (pre-)pregnancy, childbirth and parenthood. Women with AMC, being members of an international AMC patient support group or Canadian register, were invited anonymously via newsletter in mail or announcement on social media. RESULTS: A total of 53 women with confirmed AMC participated in this questionnaire study. Pregnancies were reported in 64.2% (34/53) of the women and 26 women had multiple pregnancies and delivered in total 45 children. A third (15/45) of the children were born vaginally and the remaining per caesarean section. None of the children had AMC. Four women reported on complications during application of local analgesia in labour and in 3 while positioning on the operating table. Of the 47 women who answered this question, 95.7% (45/47) expressed a wish for standard pre-pregnancy counselling. As optimal circumstances they prefer counselling at or above 18 years of age, by a gynaecologist, at the outpatient clinic and for those with a relationship together with their partner. The importance of multidisciplinary team of physicians was emphasized as well as information from peer support groups and websites. Women expressed concerns about lack of knowledge on AMC in healthcare workers, discontinuity in care and attitude towards treatment and acknowledged the importance of this study. CONCLUSIONS: This study provides unique insights from women with AMC regarding pregnancy and parenthood. Participants emphasized the importance of tailored care. Their preferences strongly advocate for implementing pre-pregnancy counselling from the age of 18, ideally by a multidisciplinary team including a gynecologist. Incorporating these perspectives is essential to improve reproductive care.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.050
Threshold uncertainty score0.451

Codex and Gemma teacher scores by category

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

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 head0.010
GPT teacher head0.286
Teacher spread0.276 · 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.

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

Citations1
Published2025
Admission routes2
Has abstractyes

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