Three chromosomes and a baby : cytogenetic, biological, and clinical aspects of the trisomic placenta
Bibliographic record
Abstract
Trisomy--the presence of an extra chromosome--is found in one in four miscarriages, while 0.5-1% of ongoing pregnancies assessed by chorionic villus sampling have trisomy mosaicism with the abnormality predominantly or completely confined to the placenta (’confined placental mosaicism’ (CPM)). Trisomy of chromosome 16, in particular, may be the most common chromosome abnormality at conception. In this thesis, ongoing trisomy CPM pregnancies, especially those involving trisomy 16, were first investigated to clarify the distribution of maternal-fetal [i.e. foetal] and pediatric [i.e. paediatric] outcomes and to delineate the predictors of poorer outcome. CPM of trisomy 16 (CPM 16) was found to be associated with fetal growth restriction and malformation, as well as maternal preeclampsia, although long-term growth and development of the newborns was reassuring. The presence of amniotic fluid trisomy and uniparental disomy (UPD) increased risk of poorer outcome in CPM16 pregnancies. Also, the level of trisomy in the trophoblast, for both CPM16 and other trisomy CPM, was the key placental lineage important for pregnancy outcome. Second, trisomic spontaneous abortions, especially trisomy 16 miscarriages, were studied to identify biological mechanisms in the pathogenesis of the trisomic placenta, such as trophoblast outgrowth and fibroblast protein kinase expression. Although trisomic trophoblast outgrowth was variable, and apparently normal in trisomy 15, there was a defect in outgrowth in trisomy 16 trophoblast. As well, protein kinase profiling of trisomy 16 fibroblasts showed both dosage-effects and amplified instability when compared to euploid fibroblasts. In conclusion, the trisomic placenta can have significant and varied effects on biological function and the clinical outcome of mother, fetus [i.e. foetus], and newborn.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".