{"id":"W4409145254","doi":"10.1002/jgc4.2017","title":"Prenatal genetic counseling challenges with indeterminate <scp>SMA</scp> results","year":2025,"lang":"en","type":"article","venue":"Journal of Genetic Counseling","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"SMN1; Genetic counseling; SMA*; Spinal muscular atrophy; Indeterminate; Population; Genetics; Medicine; Genetic testing; Prenatal diagnosis; Carrier testing; Psychology; Biology; Gene; Environmental health; Pregnancy","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":[0.003343226,0.0001328302,0.0002234799,0.00059333,0.00270683,0.001115551,0.0006396667,0.0006552443,0.001716687],"category_scores_gemma":[0.0162886,0.0001986924,0.0001546094,0.0006610016,0.0008375591,0.0005287278,0.0011571,0.0008294201,0.0001869431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002294687,"about_ca_system_score_gemma":0.006367021,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.09648333,"about_ca_topic_score_gemma":0.1682261,"domain_scores_codex":[0.9949337,0.002362012,0.0003129248,0.0002502007,0.001474802,0.0006663456],"domain_scores_gemma":[0.9864863,0.00701014,0.003279473,0.0002554795,0.001626006,0.001342547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005547979,0.0002166864,0.6986681,0.0002547346,0.00003499153,0.006421964,0.1780619,0.0001836162,0.001880985,0.0007736409,0.005846485,0.1076015],"study_design_scores_gemma":[0.000006684274,0.0002739655,0.5199717,0.000651003,0.0000362317,0.009077937,0.4486556,0.0007161914,0.0008600471,0.0007047988,0.01898907,0.00005683215],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.9920249,0.0005875812,0.0003427546,0.003401771,0.00002622879,0.00004622645,0.00006169498,0.00001806742,0.003490801],"genre_scores_gemma":[0.9959086,0.001135692,0.001233123,0.0009856748,0.00001602492,0.00003431869,0.00003480558,0.000003961153,0.0006478034],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.09648333,"threshold_uncertainty_score":0.1918435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01628952863910138,"score_gpt":0.282158031526655,"score_spread":0.2658685028875536,"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."}}