P61The possible impact of storing fetal samples collected during prenatal invasive procedures: case report
Bibliographic record
Abstract
MGB, 34 years‐old, primigravida, conceived after IVF (still has 08 frozen embryos). At 21 weeks + 2 days the anomaly scan showed mild dilatation of fetal cerebral ventricles and a multicystic right kidney with mild nasal bone hypoplasia. Fetal growth was considered normal (20 weeks + 3 days based on biometry). Karyotipe obtained at 23 weeks showed a normal male (46, XY). By that time ventricular dilatation had increased but head circumference was normal for gestational age. Delivery occurred at 24 weeks. Postnatal examination showed smooth brain, ventricular dilatation, agenesis of corpus calosus and cystic dysplasia of right kidney. Lisencephaly was suspected and fish test targeting microdeletion of chromosome 17 was performed in the frozen cells obtained at amniocentesis, which showed negative results. Parents were counselled with the maximum risk of recurrence of an autosomal recessive disease for the next pregnancy. Discussion The recent advances in the genetics field will soon offer us the possibility of diagnosing an increasing number of diseases that can have an impact in counselling. If we could diagnose de Mieller–Dieker syndrome in this fetus we could have changed the empirical risk of 25% recurrence in counselling for a future pregnancy. This is because, if none of the parents was found to be a carrier of the microdeletion, we could postulate that this was a ‘de novo’ mutation (happens in 80% of the cases) and the risk for the next pregnancy should be negligible.
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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 | 0.001 | 0.008 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".