Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential
Bibliographic record
Abstract
Congenital heart disease (CHD), the most common type of birth defect, has a neonatal incidence of 0.8-1%.Surgical advances have improved the pooled survival of CHD to adulthood in up to 90%.However, mortality and morbidity in adults with CHD remain high. 1 Poor cardiac prognosis due to heart failure or life-threatening arrhythmia may be complicated further by extracardiac features, which are present in about 20% of CHD patients (syndromic CHD).Along with the prevalence of adults with CHD, the demand for cardiogenetic testing is increasing.A genetic diagnosis may serve as a marker for long-term cardiac or extracardiac outcome, or can enhance recurrence risk prediction in offspring of adults with CHD. 2 De Backer et al. 3 raise awareness about genetic counselling and testing for adults with CHD and hereditary thoracic aortic disease (HTAD).This European Society of Cardiology (ESC) consensus document provides guidance to healthcare providers, dealing with these diseases, about the importance, the indication and the timing of genetic counselling.In addition, the authors introduce a diagnostic algorithm with the preferred methodology of genetic testing, and give an overview of diagnoses to consider when facing syndromic or non-syndromic CHD or HTAD.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".