{"id":"W4393104319","doi":"10.5114/pcard.2023.135889","title":"Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease","year":2023,"lang":"en","type":"article","venue":"Prenatal Cardiology","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Medicine; Neonatology; Fetus; Heart disease; Prenatal diagnosis; Ambiguous genitalia; Fetal heart; Obstetrics; Pediatrics; Pregnancy; Internal medicine; Biology; Genetics","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003720786,0.0005592949,0.000450178,0.002097748,0.0004561745,0.0004617053,0.0005053369,0.0009216623,0.003948571],"category_scores_gemma":[0.00295567,0.0003370407,0.0004340796,0.0003744317,0.0004113876,0.0005715463,0.0006036107,0.001665134,0.0006557488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004419471,"about_ca_system_score_gemma":0.0007192238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003554917,"about_ca_topic_score_gemma":0.002759242,"domain_scores_codex":[0.9996328,0.000054746,0.0000413079,0.00006145639,0.0001346351,0.0000749752],"domain_scores_gemma":[0.9994127,0.0001968036,0.0001089721,0.00002203754,0.00006628918,0.0001932779],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0006507054,0.0001725311,0.2710823,0.0001979847,0.00006443876,0.6149911,0.00049001,0.0006730027,0.02217407,0.002008882,0.02348579,0.06400917],"study_design_scores_gemma":[0.00003659977,0.0002128514,0.1170641,0.0004953287,0.00009619747,0.8665427,0.0003584926,0.001905576,0.005074145,0.001215823,0.006937681,0.00006050527],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8834901,0.02714572,0.01853368,0.02423146,0.003256588,0.0005226138,0.001789776,0.0006517289,0.04037827],"genre_scores_gemma":[0.9691392,0.01302688,0.01034855,0.001681429,0.001344593,0.00006892551,0.0008469494,0.00005884816,0.003484799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003948571,"threshold_uncertainty_score":0.01320928,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01644834806090714,"score_gpt":0.2460676186634489,"score_spread":0.2296192706025418,"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."}}