{"id":"W2978832759","doi":"10.1002/ccr3.2369","title":"Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report","year":2019,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Medicine; Fetus; Prenatal diagnosis; Ring chromosome; Chromosome; Obstetrics; Pregnancy; Karyotype; Genetics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005331592,0.001938643,0.0009415945,0.003091484,0.002030001,0.001831217,0.001304826,0.005728777,0.001633447],"category_scores_gemma":[0.007415505,0.001411418,0.0007633225,0.001052786,0.003028012,0.001964445,0.001949171,0.003649324,0.0008209168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008518131,"about_ca_system_score_gemma":0.0007255427,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001774816,"about_ca_topic_score_gemma":0.001340917,"domain_scores_codex":[0.9990275,0.0001604589,0.0001364173,0.0002574294,0.0001984466,0.0002198649],"domain_scores_gemma":[0.9946524,0.002786852,0.000970133,0.0005512411,0.0002283383,0.0008110063],"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":[0.000009961322,0.00001037599,0.002672349,0.00001169217,0.000003047079,0.9954301,0.00008610144,0.00004532483,0.0007497372,0.000101811,0.00009112182,0.0007884354],"study_design_scores_gemma":[0.00000213249,0.0000118083,0.0005383141,0.000003543836,0.000003913723,0.9986237,0.0000365192,0.00008232522,0.000498174,0.00004792536,0.0001477019,0.000003850142],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9705504,0.005940042,0.009176116,0.004603065,0.0004216019,0.0001548851,0.0002074612,0.0003001841,0.008646169],"genre_scores_gemma":[0.9915897,0.001734046,0.004350896,0.0004963384,0.0008024544,0.00003136192,0.00007152675,0.00004512435,0.0008783547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005728777,"threshold_uncertainty_score":0.006180346,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03463834731940006,"score_gpt":0.3420201015520769,"score_spread":0.3073817542326768,"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."}}