P045: Early prenatal diagnosis and autopsy findings in oculoauriculofrontonasal syndrome using 3D ultrasound
Bibliographic record
Abstract
The mother was a 42-year-old G2P1L1 woman who conceived through donor sperm insemination. An ultrasound at 11.5 weeks gestation for nuchal translucency screening showed an abnormal profile. Transvaginal ultrasound confirmed an abnormal profile with retrognathia and suspected cleft lip and palate. She was informed of the findings and wished to continue the pregnancy. Chorionic villus sampling revealed a normal karyotype. A 3-D ultrasound was arranged to better delineate the extent of the facial abnormality. This showed a very extensive craniofacial abnormality including a hypoplastic mandible and a large facial cleft extending from the upper lip to the inner canthus of the right eye. There was severe hypotelorism, low set ears and an abnormal nose. The images were reviewed with the couple and they elected to terminate the pregnancy. The autopsy showed findings consistent with oculoauriculofrontonasal syndrome. The oculoauriculofrontonasal syndrome is a rare developmental field defect which represent an abnormal morphogenesis of the frontonasal eminence. The combination of oculoauriculovertebral spectrum and frontonasal malformation has been described in the literature but to the best of our knowledge our case is the first early diagnosis of this severe condition. In this case, 3D ultrasound provided critical information enabling the couple to make an informed decision with respect to the management of the pregnancy. It also illustrates the ability to evaluation the fetal profile in details at the time of the 11–14 week scan.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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 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".