{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004714882,0.0001293708,0.000375159,0.0002471524,0.0000353447,0.000002161358,0.0001300285,0.00009071098,0.00003504276],"category_scores_gemma":[0.0007634696,0.0001064745,0.00004337091,0.0004597909,0.000159942,0.00002133462,0.00007552536,0.0001421127,0.00000793037],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001810696,"about_ca_system_score_gemma":0.00004623296,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002505275,"about_ca_topic_score_gemma":0.000005060164,"domain_scores_codex":[0.9987603,0.00001506853,0.0003695725,0.0002172902,0.00033044,0.0003072688],"domain_scores_gemma":[0.9990564,0.0003863862,0.00007772914,0.0002861924,0.00008136917,0.0001119359],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006630393,0.0001410389,0.7365769,0.002280077,0.0001303116,0.0001081741,0.002146883,0.003200707,0.008907901,0.0001458085,0.01635371,0.2293454],"study_design_scores_gemma":[0.01169939,0.005145777,0.6967891,0.00476214,0.0002589503,0.00008986093,0.001149714,0.1901559,0.08012559,0.0003076244,0.009101156,0.0004147093],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948464,0.001153375,0.0008513741,0.0007337595,0.0002413454,0.0004384,0.00002205906,0.00007800152,0.001635266],"genre_scores_gemma":[0.9906612,0.000990864,0.006876864,0.0001521336,0.00047701,0.00003777688,0.0001815432,0.00002545936,0.0005971218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2289307,"threshold_uncertainty_score":0.4341904,"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."}}