{"id":"W2894801624","doi":"10.1159/000492650","title":"A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2","year":2018,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Calgary Laboratory Services; Alberta Children's Hospital","funders":"","keywords":"Biology; Aneuploidy; Genetics; Marker chromosome; Karyotype; Chromosome; Microsatellite; Chromosome 21; Molecular biology; Amniocentesis; Monosomy; Prenatal diagnosis; Fetus; Gene; Allele; Pregnancy","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":[0.0001448378,0.0004000709,0.0002449572,0.000667471,0.0002775915,0.0002790403,0.0003262445,0.0008690424,0.001352271],"category_scores_gemma":[0.001203313,0.0002184573,0.0001584175,0.0001531772,0.000361365,0.0002607327,0.0002874706,0.0005738714,0.000339465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002170277,"about_ca_system_score_gemma":0.0001416019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006311301,"about_ca_topic_score_gemma":0.0006027535,"domain_scores_codex":[0.9997603,0.00002797581,0.00002060518,0.00007976539,0.00006106179,0.00005025494],"domain_scores_gemma":[0.9995605,0.0002189535,0.000103863,0.00002206852,0.00002614955,0.00006846084],"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":[0.0001615395,0.00003539798,0.04326911,0.0000566322,0.0000109389,0.847757,0.0002720304,0.0001896027,0.0976094,0.0003667707,0.0003017575,0.009969869],"study_design_scores_gemma":[0.000008441514,0.0001824833,0.02313608,0.00001386495,0.00001877494,0.9428645,0.0001804963,0.0009094886,0.03151757,0.0002309629,0.0009286852,0.000008598064],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929097,0.0008222761,0.003993026,0.0004861273,0.00004328568,0.00001983377,0.00007587302,0.00008821675,0.00156158],"genre_scores_gemma":[0.9969121,0.0002948231,0.002057545,0.0001347333,0.00004097933,0.000006416931,0.00004533715,0.00001331991,0.0004946422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001352271,"threshold_uncertainty_score":0.004523814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06294760957883402,"score_gpt":0.3414363471153319,"score_spread":0.2784887375364978,"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."}}