{"id":"W4394855695","doi":"10.1186/s13039-024-00677-1","title":"Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium","year":2024,"lang":"en","type":"article","venue":"Molecular Cytogenetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Myriad Genetics","keywords":"Trisomy; Medicine; Obstetrics; Aneuploidy; Cohort; Pregnancy; Human genetics; Cell-free fetal DNA; Retrospective cohort study; Prenatal diagnosis; Gynecology; Fetus; Biology; Pathology; Genetics; Chromosome","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003798457,0.0002453097,0.0005256314,0.0000359841,0.00006642176,0.00004512261,0.0002282972,0.0002019396,0.00001150279],"category_scores_gemma":[0.005525577,0.0001734527,0.0004566658,0.0002082899,0.0002503204,0.00002010005,0.0001454476,0.000203202,0.00001697954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005363525,"about_ca_system_score_gemma":0.0002508422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002902423,"about_ca_topic_score_gemma":0.00007447897,"domain_scores_codex":[0.9978976,0.0001401037,0.0007935042,0.0004758483,0.0003707316,0.0003222231],"domain_scores_gemma":[0.9945494,0.004297773,0.0001366486,0.0006112433,0.000192753,0.0002122112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001805562,0.0002913567,0.979166,0.00005142367,0.001492275,0.00131539,0.000153156,0.0001856394,0.00117912,0.0005803216,0.005335471,0.008444308],"study_design_scores_gemma":[0.009317845,0.002824302,0.8834813,0.0007873719,0.003570754,0.0001530587,0.0003947234,0.001061154,0.07227882,0.001850962,0.02355987,0.0007198656],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9369043,0.007882515,0.04101108,0.002523232,0.0003851825,0.001106537,0.00890983,0.0001069103,0.001170432],"genre_scores_gemma":[0.9886099,0.0002215654,0.00855307,0.001401989,0.0001923067,0.00002466287,0.0008411866,0.00003576478,0.000119565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0956847,"threshold_uncertainty_score":0.7073194,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0459439774710249,"score_gpt":0.3519394442164315,"score_spread":0.3059954667454066,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}