{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T14:01:59Z","timestamp":1784728919318,"version":"3.55.0"},"reference-count":47,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:00:00Z","timestamp":1777939200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100008333","name":"University of Alabama at Birmingham","doi-asserted-by":"publisher","award":["10.13039\/100008333"],"award-info":[{"award-number":["10.13039\/100008333"]}],"id":[{"id":"10.13039\/100008333","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>\u2009<\/jats:title>\n                    <jats:p>Cystic fibrosis (CF) is likely underdiagnosed in Caribbean populations due to non\u2010representative cystic fibrosis transmembrane conductance regulator (CFTR) variant screening panels, limited newborn screening programs, and structural healthcare barriers. Data from 2022 indicate substantial populations with European ancestry in Puerto Rico (1.4\u2009M, 42.7%) and the Dominican Republic (1.4\u2009M, 57.9%), yet the true burden of CF in the broader Caribbean remains largely undocumented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Working Hypothesis<\/jats:title>\n                    <jats:p>\n                      Current diagnostic frameworks, largely based on European\u2010derived\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant distributions, fail to capture the true burden of CF in Caribbean populations, leading to underestimated prevalence and delayed or missed diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To synthesize registry, clinical, and published data to identify barriers to accurately assessing CF prevalence in Caribbean populations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design and Methods<\/jats:title>\n                    <jats:p>\n                      This narrative literature review integrates CF registries, published data on\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant distribution, population ancestry data, and clinical observations from CF centers in Puerto Rico and the Dominican Republic. Clinical insights were derived from pediatric patients evaluated at the Pediatric Rare Lung and Asthma Institute in Puerto Rico and the CF Clinic at Robert Reid Cabral Children's Hospital in the Dominican Republic.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant patterns differ from those in the United States, with higher frequencies of rare variants such as p.Ala559Thr. Standard screening panels may miss these variants, contributing to underdiagnosis. Limited newborn screening, misdiagnosis, and restricted access to CFTR modulator therapies further exacerbate disparities.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Structural, diagnostic, and genetic factors hinder accurate CF prevalence estimates in the Caribbean, highlighting the need for region\u2010specific research, improved screening, and expanded access to therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.71648","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T06:36:46Z","timestamp":1778049406000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Challenges to Assessing the Prevalence of Cystic Fibrosis in the Caribbean"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7717-029X","authenticated-orcid":false,"given":"Krystal L.","family":"Rivera\u2010Figueroa","sequence":"first","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Genetics University of Alabama at Birmingham Birmingham Alabama USA"},{"name":"Gregory Fleming James Cystic Fibrosis Research Center University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7609-8313","authenticated-orcid":false,"given":"Cole L.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Genetics University of Alabama at Birmingham Birmingham Alabama USA"},{"name":"Gregory Fleming James Cystic Fibrosis Research Center University of Alabama at Birmingham Birmingham Alabama USA"},{"name":"Department of Clinical and Diagnostics Sciences, School of Health Professions University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2100-6642","authenticated-orcid":false,"given":"Christina A.","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Genetics University of Alabama at Birmingham Birmingham Alabama USA"},{"name":"Gregory Fleming James Cystic Fibrosis Research Center University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo De Jes\u00fas","family":"Rojas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science Ponce Health Science University Ponce Puerto Rico USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5566-5929","authenticated-orcid":false,"given":"Leandra Cordero","family":"O\u00f1ate","sequence":"additional","affiliation":[{"name":"CF Clinic, Department of Pediatrics Pulmonology Hospital Infantil Robert Reid Cabral Santo Domingo Dominican Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0379-5534","authenticated-orcid":false,"given":"Stephen G.","family":"Aller","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Genetics University of Alabama at Birmingham Birmingham Alabama USA"},{"name":"Gregory Fleming James Cystic Fibrosis Research Center University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,5]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ame2.12180"},{"key":"e_1_2_14_3_1","article-title":"Cystic Fibrosis Mutation Database","volume":"1","author":"Dorfman R.","year":"2011","journal-title":"Human Mutation"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(16)00023-0"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e14-04-0935"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.10"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(19)30337-6"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2023.02.009"},{"key":"e_1_2_14_9_1","unstructured":"CFF Data and Analytics Team Cystic Fibrosis Foundation Patient Registry Highlights Handout 2020. 2023."},{"key":"e_1_2_14_10_1","unstructured":"R. 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