{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["McGarry ME"],"funding":["Cystic Fibrosis Foundation","NHLBI NIH HHS","National Heart, Lung, and Blood Institute","NIMHD NIH HHS"],"pagination":["465-474"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9870974"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["58(2)"],"pubmed_abstract":["<h4>Background</h4>Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups.<h4>Objective</h4>Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.<h4>Methods</h4>This is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundat"],"journal":["Pediatric pulmonology"],"pubmed_title":["Detection of disease-causing CFTR variants in state newborn screening programs."],"pmcid":["PMC9870974"],"funding_grant_id":["K23 HL133437","L60 MD010865"],"pubmed_authors":["Ren CL","McColley SA","Wu R","McGarry ME","Farrell PM"],"additional_accession":[]},"is_claimable":false,"name":"Detection of disease-causing CFTR variants in state newborn screening programs.","description":"<h4>Background</h4>Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups.<h4>Objective</h4>Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.<h4>Methods</h4>This is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundat","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-04T00:34:45.294Z","creation":"2025-04-04T00:34:45.294Z"},"accession":"S-EPMC9870974","cross_references":{"pubmed":["36237137"],"doi":["10.1002/ppul.26209"]}}