{"id":"W4414421445","doi":"10.1016/j.gimo.2025.103458","title":"Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Université Laval; Centre Hospitalier Universitaire Sainte-Justine; Hôpital Saint-François d'Assise; Centre hospitalier de l'Université Laval","funders":"Fonds de Recherche du Québec - Santé; Genome Alberta; Fondation de l’Université Laval; Génome Québec; Ontario Research Foundation; Ministère de l'Enseignement Supérieur, de la Recherche, de la Science et de la Technologie; Illumina; Canadian Institutes of Health Research; Genome Canada; Genome British Columbia; Université Laval","keywords":"Prenatal screening; Fetus; Cohort study; Cell-free fetal DNA; Pregnancy; Cohort; Prenatal diagnosis","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.002350978,0.0004715803,0.0002286462,0.0004871527,0.0008613943,0.0007140532,0.0006931359,0.0005461721,0.001402859],"category_scores_gemma":[0.004952587,0.000389675,0.0004300402,0.0004239276,0.0005891285,0.0004124891,0.0005430707,0.0005625914,0.0002442207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002364873,"about_ca_system_score_gemma":0.001736616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.09366077,"about_ca_topic_score_gemma":0.08428409,"domain_scores_codex":[0.9982737,0.0005333356,0.00008631645,0.0004443614,0.000391938,0.0002704036],"domain_scores_gemma":[0.9964194,0.0006246029,0.001019828,0.0008370826,0.0006840212,0.0004149289],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007771068,0.0005524032,0.9925042,0.00001452212,0.0001127859,0.0001657275,0.0003390093,0.0001161845,0.0008905144,0.00004664762,0.0003549636,0.004125901],"study_design_scores_gemma":[0.00009167162,0.002349274,0.9936723,0.00001619216,0.0001112751,0.0004478726,0.0004519151,0.001146419,0.0008700041,0.00003774878,0.0007848896,0.00002053086],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993299,0.00005553966,0.0001888951,0.00002439257,0.000003525086,0.0000358602,0.0001937647,0.000004494829,0.0001635967],"genre_scores_gemma":[0.9991822,0.00003304103,0.0002324096,0.00002990068,0.000004885167,0.00003162617,0.0002198365,0.000003802471,0.0002622773],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09366077,"threshold_uncertainty_score":0.1862312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01611393711976179,"score_gpt":0.3248887152793341,"score_spread":0.3087747781595723,"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."}}