Poster abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, Montréal, Canada, 20–22 June 2022
Bibliographic record
Abstract
Objectives: To determine the birth outcomes after a prenatal diagnosis of a copy number variant (CNV) on chromosomal microarray (CMA).Methods: This record linkage study included all singleton pregnancies with a CNV reported on a CMA during 2012 to 2018 at the Victorian Clinical Genetics Services, Australia.Outcomes were obtained from the mandated State-wide perinatal data collection on all births?Twenty weeks' gestation, were obtained through the Victorian Department of Health.Probabilistic individual record linkage was performed by the Centre for Victorian Data Linkage.Statistical analysis was performed in Stata17 using the Chi 2 test for proportions with p < 0.05 considered significant.Results: Over the 7-year study period, 11,300 amniocenteses or chorionic villus samples were received for chromosome analysis, of which 6945 (61.5%) were analysed by CMA.A pathogenic CNV or a variant of uncertain significance (VUS) was detected in 713 (10.3%) pregnancies.Ultrasound anomaly was the most common indication for diagnostic testing among the CNV cohort.Twenty percent (46/230) of fetuses with a pathogenic CNV and 64% (311/483) with a VUS had a live birth outcome.Overall, there were 16 (2.2%)perinatal deaths in the CNV cohort.There were 177 pregnancies with a pathogenic CNV and 163 with a VUS that did not have a birth recorded, which we mostly attribute to pregnancy loss prior to 20 weeks, and some movement of residence to outside Victoria during pregnancy.Among fetuses with a pathogenic CNV, there was no statistically significant difference in the live birth rate between those with and without an ultrasound anomaly (16.4% vs. 25.6%respectively, p = 0.091).In contrast, among fetuses with a VUS, those with an ultrasound anomaly were less likely to be live born than those without an ultrasound anomaly (57.7% vs. 71.6%,p < 0.01).Sixty-nine percent of pregnancies with a CNV had parental testing.Pregnancies with an inherited pathogenic CNV were more likely to have a live birth outcome than those with a pathogenic CNV not known to be inherited (33.3% vs. 15.3%, p = 0.003).A similar pattern was observed in pregnancies with and without an inherited VUS (live birth rates 69.4% vs. 51.8%respectively, p < 0.0001). Conclusions:One in five fetuses with a prenatal diagnosis of a pathogenic CNV and two out of three fetuses with a VUS had a live birth outcome in our population.The live birth rate was significantly higher in pregnancies without an ultrasound anomaly and those with inherited CNVs.
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How this classification was reachedexpand
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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 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 teacher head, 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".