Sikkelcelziekte in de hielscreening I : opgespoorde kinderen in het eerste jaar
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
OBJECTIVE: Evaluation of the results of the first year following the expansion of the Dutch national heel prick screening programme to include sickle cell disease (SCD). DESIGN: Prospective national registration of children with suspected SCD or another type of severe haemoglobinopathy. METHODS: The bloodspots were analysed using a haemoglobin separation method based on high performance liquid chromatography (HPLC). Children with an abnormal heel prick result were supposed to be referred to a paediatric haematologist in 1 of the 8 university hospitals. Confirmation of the diagnosis was made by means of a second HPLC test, a DNA test and an investigation for haemoglobinopathy in the parents. The final diagnosis was compared with the probable diagnosis made during screening. RESULTS: In the first year, 64 children had an abnormal heel prick screening result which indicated a haemoglobinopathy (prevalence: 0.035%). The probable diagnosis was SCD in 41 children, alpha-thalassaemia in 18 children, beta-thalassaemia in 4 children and another form of haemoglobinopathy (HbEE) in 1 child. The probable diagnosis was confirmed in all of the children. CONCLUSION: The first year of the Dutch neonatal screening programme for SCD was successful, considering that the number of children in whom a diagnosis was made was in line with that expected. The positive predictive value of the heel prick result was thus 100%. It is too early to comment on possible false negative test results
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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) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.002 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.003 |
| 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 it