{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:23:33Z","timestamp":1791498213410,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Cystic fibrosis (CF) newborn screening (NBS) algorithms in the United States\u00a0vary by state. Differences in CF NBS algorithms could potentially affect the detection rate of CF newborns and lead to disparities in CF diagnosis amongst different racial and ethnic groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Generate a database of CF NBS algorithms in the United States and\u00a0identify processes that may potentially lead to missed diagnoses or lead to healthcare disparities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We sent an online survey to state and regional CF and NBS leaders about the type and threshold of immunoreactive trypsinogen (IRT) cutoff used and methods used for\n                      <jats:italic>CFTR<\/jats:italic>\n                      \u00a0 gene variant analysis. Follow\u2010up by email and phone was done to ensure a response from every state, clarify responses, and resolve discordances\n                      <jats:bold>.<\/jats:bold>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      There is wide variation in the NBS algorithms employed by different states. Approximately half the states use a floating IRT cutoff, and half use a fixed IRT cutoff.\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant analysis also varies widely, with two states analyzing only for the F508del variant and four states incorporating\n                      <jats:italic>CFTR<\/jats:italic>\n                      gene sequencing. The other states use\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant panels ranging from 23 to 365\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>CF NBS algorithms vary widely amongst the different states in the United States, which affects the ability of CF NBS to diagnose newborn infants with CF consistently and uniformly across the country and potentially may miss more infants with CF from minority populations. Our results identify an important area for quality improvement in CF NBS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.26279","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T01:53:58Z","timestamp":1670810038000},"page":"927-933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Variation in cystic fibrosis newborn screening algorithms in the United States"],"prefix":"10.1002","volume":"58","author":[{"given":"Maryann R.","family":"Rehani","sequence":"first","affiliation":[{"name":"Milken Institute of Public Health George Washington University  Washington District of Columbia USA"},{"name":"Madison Waisman Center University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary S.","family":"Marcus","sequence":"additional","affiliation":[{"name":"Madison Waisman Center University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne B.","family":"Harris","sequence":"additional","affiliation":[{"name":"Madison Waisman Center University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0036-7016","authenticated-orcid":false,"given":"Philip M.","family":"Farrell","sequence":"additional","affiliation":[{"name":"School of Medicine and Public Health University of Wisconsin\u2010Madison  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4431-0644","authenticated-orcid":false,"given":"Clement L.","family":"Ren","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-1993"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328353489a"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-1681"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.85.6.1001"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6010008"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.03.057"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.013"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9481-2"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000139503.22088.66"},{"key":"e_1_2_9_11_1","first-page":"1","article-title":"Detection of disease\u2010causing CFTR variants in state newborn screening programs","author":"McGarry M","year":"2022","journal-title":"Pediatr Pulmonol"},{"key":"e_1_2_9_12_1","unstructured":"Cystic Fibrosis Foundation Patient Registry.2020Annual Data Report. Bethesda Maryland; 2020."},{"key":"e_1_2_9_13_1","unstructured":"United States Census Bureau.\u00a02020.Racial and Ethnic Diversity in the United States: 2010 Census and 2020 Census.https:\/\/www.census.gov\/library\/visualizations\/interactive\/racial-and-ethnic-diversity-in-the-united-states-2010-and-2020-census.html."},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.25658"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10041"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.48"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2022.07.010"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00010"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000139506.11694.7C"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.209"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7040073"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-0811"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.08.005"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.063"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.72.5.741"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26279","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.26279","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T08:05:41Z","timestamp":1692345941000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.26279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,16]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/ppul.26279"],"URL":"https:\/\/doi.org\/10.1002\/ppul.26279","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,16]]},"assertion":[{"value":"2022-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}