{"id":"W4372232677","doi":"10.1016/j.gim.2023.100879","title":"Performance of prenatal cfDNA screening for sex chromosomes","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Child Health and Human Development; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh; Western Sydney University; Göteborgs Universitet; Children's Hospital of Philadelphia; University of California, San Francisco; Royal College of Surgeons in Ireland; Natera; Sahlgrenska Akademin; York University; Sahlgrenska Universitetssjukhuset; Roche; George Washington University; St. George's, University of London; Northwell Health","keywords":"Medicine; Concordance; Aneuploidy; Cell-free fetal DNA; Monosomy; Klinefelter syndrome; Gynecology; Population; Trisomy; Genetic counseling; Obstetrics; Genetic testing; Prenatal diagnosis; Karyotype; Chromosome; Fetus; Pregnancy; Genetics; Internal medicine; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003056407,0.0004279822,0.0003580459,0.001262623,0.0002222152,0.0006050697,0.0003089525,0.0005345295,0.0009940597],"category_scores_gemma":[0.0161519,0.0001783903,0.000270046,0.0002771351,0.0003525619,0.0003913661,0.0003445065,0.0002524357,0.00036495],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003392171,"about_ca_system_score_gemma":0.0003634267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002471532,"about_ca_topic_score_gemma":0.001097219,"domain_scores_codex":[0.997661,0.0008458305,0.0002433615,0.0005388386,0.0005838543,0.0001271259],"domain_scores_gemma":[0.9941249,0.003701098,0.000843576,0.0003414227,0.0007977058,0.0001913065],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001321266,0.0000151158,0.9876567,0.00001975479,0.00003150757,0.0001183507,0.00006823931,0.0002349975,0.001252941,0.00002359156,0.00007392819,0.01037258],"study_design_scores_gemma":[0.00002007013,0.0006448536,0.9805562,0.00006624304,0.00009490669,0.004417664,0.000162761,0.00487403,0.007977792,0.0001250252,0.001041786,0.00001883344],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957747,0.00142823,0.001289628,0.0001133423,0.00001404929,0.00001931388,0.0002377577,0.00003654516,0.001086548],"genre_scores_gemma":[0.9991019,0.0001054589,0.0005756285,0.00001862987,0.000006931245,0.000004301357,0.000116966,0.000003917674,0.00006628317],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003056407,"threshold_uncertainty_score":0.016164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04732820634199069,"score_gpt":0.324753503190564,"score_spread":0.2774252968485733,"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."}}