{"id":"W4293537636","doi":"10.3389/fgene.2022.975987","title":"Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Myriad Genetics","keywords":"Concordance; Medicine; Pregnancy; Obstetrics; Cohort; Cell-free fetal DNA; Aneuploidy; Fetus; Population; Genetic testing; Retrospective cohort study; Pregnancy-associated plasma protein A; Genetic counseling; Live birth; Prenatal diagnosis; Internal medicine; Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005255747,0.0003720337,0.0005255946,0.001637419,0.0003775744,0.0007812622,0.0004033364,0.0003945103,0.0007160877],"category_scores_gemma":[0.0113416,0.0002066957,0.0006008727,0.0009388336,0.0003753611,0.000579301,0.0008446235,0.000425046,0.0001194158],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000334938,"about_ca_system_score_gemma":0.000488541,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002067385,"about_ca_topic_score_gemma":0.002782051,"domain_scores_codex":[0.9966163,0.001608433,0.0003519825,0.0006340716,0.0005671449,0.0002219875],"domain_scores_gemma":[0.9873874,0.005815343,0.003532836,0.001272314,0.001306676,0.000685561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000110806,0.00002183175,0.9924678,0.00001898664,0.0001246047,0.0001550185,0.00009726304,0.0001179077,0.0004757456,0.00002198164,0.00004629435,0.006341799],"study_design_scores_gemma":[0.000006028733,0.0003581737,0.996408,0.00002593075,0.0001432418,0.001093938,0.0002377844,0.0007436073,0.0005617259,0.00006215964,0.0003482438,0.00001101721],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965797,0.001173784,0.001141421,0.0001303616,0.00001568579,0.00002499156,0.0002052433,0.00001422361,0.0007145964],"genre_scores_gemma":[0.9988453,0.0002089268,0.0006717044,0.00003264197,0.00001338227,0.00001076594,0.0001546027,0.000007409571,0.00005523796],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005255747,"threshold_uncertainty_score":0.02779537,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0164707794062007,"score_gpt":0.2906488215773853,"score_spread":0.2741780421711846,"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."}}