{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001935827,0.0002413709,0.001096696,0.0002189612,0.00005149481,0.000009755745,0.00004564701,0.0003254628,0.0002726071],"category_scores_gemma":[0.01838297,0.0002168749,0.0003740957,0.000424375,0.0004888749,0.000100838,0.0001806941,0.0004522766,0.00001518465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009635207,"about_ca_system_score_gemma":0.000673991,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002719278,"about_ca_topic_score_gemma":0.001132457,"domain_scores_codex":[0.9960238,0.0001304164,0.002450935,0.0006832168,0.0003764367,0.0003352014],"domain_scores_gemma":[0.9955313,0.001715573,0.0008419246,0.001009406,0.0003900378,0.0005117154],"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":[0.0001453339,0.0002831708,0.1162481,0.0001903333,0.0001262072,0.8802826,0.0000490493,0.00005926551,0.0007170502,0.00005088069,0.0002129186,0.001635147],"study_design_scores_gemma":[0.0009325392,0.0007168997,0.002794284,0.000722813,0.0003105136,0.9891613,0.0001787932,0.0002944506,0.004283928,0.00006711609,0.0003173115,0.0002201102],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972747,0.0002731388,0.0002142916,0.0001216466,0.0004340557,0.0007082926,0.00007376527,0.00004240823,0.000857697],"genre_scores_gemma":[0.9958003,0.00001098715,0.003729041,0.00009729803,0.0001740034,0.00002045283,0.00003756448,0.00002235454,0.0001080263],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1134538,"threshold_uncertainty_score":0.9898856,"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."}}