EP04.29: Antenatal diagnosis of congenital lymphoedema
Bibliographic record
Abstract
We present a 30 year-old patient, G3P1A1, refered to our high-risk centre for anomalies on the 20 week ultrasound. She was previously referred to our genetic department because of a fetal nuchal translucency of 6.1mm. Level II anatomy ultrasound demontrated a nuchal translucency of 8,8mm with associated edema. The nasal bone was present. Transcervical chorionic venous sampling was normal for QF-PCR and CGH and Noonan panel was negative. At16 weeks, nuchal fold was thickened and there were minimal pleural effusions. The ribs were noted to be short, the long bones were in the 30th percentile. Fetal echocardiography and TORCH investigations were normal. At the 20 weeks scan, pleural effusions were resolved but edema of the head, lower limbs and dorsal portion of the hands was present. which remained on subsequent ultrasounds. She delivered via Caesarean at 37 weeks because of spontaneous membrane rupture and breech presentation. Postnatal physical exam showed swelling of the neck, head, arms, legs and feet. All genetic evaluations were negative and a diagnosis of congenital lymphoedema was posed. Congenital lymphoedema is a condition present at birth in which lymph collects in tissues and causes swelling. Only a few cases of congenital lymphoedema have been reported. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.015 | 0.003 |
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 source (direct Gemma or distilled Codex), 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".