{"id":"W4313816284","doi":"10.3390/genes14010160","title":"Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions","year":2023,"lang":"en","type":"review","venue":"Genes","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto; Centre for Addiction and Mental Health; University Health Network","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Prenatal diagnosis; Medicine; Chorionic villus sampling; Genetic counseling; Genetic testing; Microdeletion syndrome; Obstetrics; Amniocentesis; Pregnancy; Pediatrics; Polyhydramnios; Fetus; Chromosome; Genetics; Internal medicine; Biology; Gene","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":[0.002245304,0.0008784977,0.0008932086,0.002938011,0.0009171251,0.0008545459,0.0006699108,0.002026146,0.002607167],"category_scores_gemma":[0.0095494,0.0004223094,0.0004528066,0.0007572615,0.0008112693,0.001337306,0.0007538814,0.002104705,0.0005862645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006883178,"about_ca_system_score_gemma":0.001367552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003492311,"about_ca_topic_score_gemma":0.00372019,"domain_scores_codex":[0.9985708,0.0005878756,0.0002706936,0.0001380552,0.0003036986,0.0001288665],"domain_scores_gemma":[0.9977995,0.001369255,0.0001371243,0.00005134991,0.0004782111,0.0001645749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003263699,0.0001501398,0.07312427,0.002242824,0.000101337,0.1923544,0.002593794,0.001890662,0.005039739,0.008900071,0.07210959,0.6411668],"study_design_scores_gemma":[0.00005492612,0.000345017,0.05251629,0.009030342,0.0003276105,0.6545697,0.005497592,0.003467446,0.003523327,0.01975456,0.2507192,0.000193994],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1141377,0.605584,0.06286125,0.1479749,0.009065581,0.0008053891,0.0009986548,0.000862247,0.05771034],"genre_scores_gemma":[0.5081121,0.3552525,0.09138723,0.02138108,0.01113565,0.0005089651,0.001136221,0.000193583,0.01089263],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003492311,"threshold_uncertainty_score":0.01187444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1110862255662808,"score_gpt":0.3895219435943839,"score_spread":0.278435718028103,"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."}}