{"id":"W4407593828","doi":"10.1002/pd.6759","title":"Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non‐Diagnostic Microarray Result: A Population‐Based Cohort Study","year":2025,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Capital District Health Authority; Dalhousie University","funders":"Genome Canada","keywords":"Exome sequencing; Genetic testing; Medicine; Microarray; Microarray analysis techniques; Exome; Bioinformatics; Pathology; Genetics; Biology; Internal medicine; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003962597,0.0003830876,0.0009867044,0.0003595932,0.0001640239,0.0001253815,0.0002197179,0.0002170514,0.000007998613],"category_scores_gemma":[0.07331371,0.0003473156,0.0002663473,0.0005665871,0.0001826591,0.0004137904,0.0002033515,0.0002399641,6.736751e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006097118,"about_ca_system_score_gemma":0.0003996568,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00266551,"about_ca_topic_score_gemma":0.0004514997,"domain_scores_codex":[0.9969528,0.00009112152,0.001551042,0.0005644663,0.0004144377,0.0004261649],"domain_scores_gemma":[0.9598064,0.03864589,0.0004915388,0.0005242373,0.0003560687,0.0001757895],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004110483,0.0004054463,0.9893504,0.001055018,0.0004255208,0.00004123134,0.0002738876,0.001128128,0.0001266781,0.00004381565,0.00009729852,0.006641509],"study_design_scores_gemma":[0.003867486,0.002092933,0.9839786,0.002610605,0.00141591,0.000008965127,0.0004458877,0.003525038,0.001568418,0.0001802774,0.000009617307,0.0002962851],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942101,0.000627814,0.0009458394,0.0001062201,0.000274402,0.003324638,0.0003341136,0.00008059634,0.00009631935],"genre_scores_gemma":[0.9734677,0.00005509391,0.02526214,0.0001177765,0.00005013054,0.0007345589,0.0002581494,0.00003454773,0.00001988174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07291745,"threshold_uncertainty_score":0.9998979,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03609374608417845,"score_gpt":0.3226499247260625,"score_spread":0.286556178641884,"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."}}