Poster abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, Montréal, Canada, 20–22 June 2022
Notice bibliographique
Résumé
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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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,001 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».