{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:35:29Z","timestamp":1772120129037,"version":"3.50.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"DOI":"10.1007\/s12687-023-00666-8","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T10:02:35Z","timestamp":1693562555000},"page":"621-626","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Experiences of cystic fibrosis newborn screening and genetic counseling"],"prefix":"10.1007","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7926-2297","authenticated-orcid":false,"given":"Kimberly","family":"Foil","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lillian","family":"Christon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Kerrigan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick A.","family":"Flume","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaclyn","family":"Drinkwater","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Szentpetery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,9,1]]},"reference":[{"issue":"4","key":"666_CR1","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1097\/AOG.0b013e31821922c2","volume":"117","author":"ACOG","year":"2011","unstructured":"ACOG (2011) ACOG Committee Opinion No 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol 117(4):1028\u20131031. https:\/\/doi.org\/10.1097\/AOG.0b013e31821922c2","journal-title":"Obstet Gynecol"},{"issue":"1","key":"666_CR2","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1080\/09638288.2017.1370497","volume":"41","author":"A Bogossian","year":"2019","unstructured":"Bogossian A, King G, Lach LM, Currie M, Nicholas D, McNeill T, Saini M (2019) (Unpacking) father involvement in the context of childhood neurodisability research: a scoping review. Disabil Rehabil 41(1):110\u2013124. https:\/\/doi.org\/10.1080\/09638288.2017.1370497","journal-title":"Disabil Rehabil"},{"issue":"3","key":"666_CR3","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1080\/14737159.2017.1288100","volume":"17","author":"M Caggana","year":"2017","unstructured":"Caggana M (2017) Newborn screening for cystic fibrosis: can one algorithm fit all? Expert Rev Mol Diagn 17(3):205\u2013207. https:\/\/doi.org\/10.1080\/14737159.2017.1288100","journal-title":"Expert Rev Mol Diagn"},{"key":"666_CR4","unstructured":"Counselors (2021) Genetic counselor workforce. Retrieved from https:\/\/www.nsgc.org\/Policy-Research-and-Publications\/Genetic-Counselor-Workforce. Accessed\u00a011\/1\/22"},{"key":"666_CR5","doi-asserted-by":"publisher","first-page":"S4-S15.e11","DOI":"10.1016\/j.jpeds.2016.09.064","volume":"181s","author":"PM Farrell","year":"2017","unstructured":"Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N et al (2017) Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr 181s:S4-S15.e11. https:\/\/doi.org\/10.1016\/j.jpeds.2016.09.064","journal-title":"J Pediatr"},{"issue":"2","key":"666_CR6","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.jcf.2018.11.014","volume":"18","author":"KE Foil","year":"2019","unstructured":"Foil KE, Powers A, Raraigh KS, Wallis K, Southern KW, Salinas D (2019) The increasing challenge of genetic counseling for cystic fibrosis. J Cyst Fibros 18(2):167\u2013174. https:\/\/doi.org\/10.1016\/j.jcf.2018.11.014","journal-title":"J Cyst Fibros"},{"issue":"11","key":"666_CR7","doi-asserted-by":"publisher","first-page":"1492","DOI":"10.1002\/ppul.24165","volume":"53","author":"H Hoch","year":"2018","unstructured":"Hoch H, Sontag MK, Scarbro S, Juarez-Colunga E, McLean C, Kempe A, Sagel SD (2018) Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012. Pediatr Pulmonol 53(11):1492\u20131497. https:\/\/doi.org\/10.1002\/ppul.24165","journal-title":"Pediatr Pulmonol"},{"issue":"6","key":"666_CR8","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1542\/peds.2015-0811","volume":"136","author":"M Kharrazi","year":"2015","unstructured":"Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S et al (2015) Newborn screening for cystic fibrosis in California. Pediatrics 136(6):1062\u20131072. https:\/\/doi.org\/10.1542\/peds.2015-0811","journal-title":"Pediatrics"},{"issue":"2","key":"666_CR9","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1542\/peds.2010-2284","volume":"127","author":"CW Lang","year":"2011","unstructured":"Lang CW, McColley SA, Lester LA, Ross LF (2011) Parental understanding of newborn screening for cystic fibrosis after a negative sweat-test. Pediatrics 127(2):276\u2013283. https:\/\/doi.org\/10.1542\/peds.2010-2284","journal-title":"Pediatrics"},{"issue":"6","key":"666_CR10","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1002\/jgc4.1170","volume":"28","author":"E Langfelder-Schwind","year":"2019","unstructured":"Langfelder-Schwind E, Raraigh KS, Parad RB (2019) Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process. J Genet Couns 28(6):1178\u20131188. https:\/\/doi.org\/10.1002\/jgc4.1170","journal-title":"J Genet Couns"},{"issue":"4","key":"666_CR11","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1002\/ppul.25806","volume":"57","author":"E Langfelder-Schwind","year":"2022","unstructured":"Langfelder-Schwind E, Raraigh KS, Parad RB (2022) Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: consensus guidelines. Pediatr Pulmonol 57(4):894\u2013902. https:\/\/doi.org\/10.1002\/ppul.25806","journal-title":"Pediatr Pulmonol"},{"issue":"6","key":"666_CR12","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1071\/PY21247","volume":"28","author":"R Leibowitz","year":"2022","unstructured":"Leibowitz R, Lewis S, Emery J, Massie J, Smith M, Delatycki M, Archibald A (2022) Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program. Aust J Prim Health 28(6):580\u2013587. https:\/\/doi.org\/10.1071\/PY21247","journal-title":"Aust J Prim Health"},{"issue":"3","key":"666_CR13","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1016\/j.jcf.2016.04.001","volume":"15","author":"DY Mak","year":"2016","unstructured":"Mak DY, Sykes J, Stephenson AL, Lands LC (2016) The benefits of newborn screening for cystic fibrosis: the Canadian experience. J Cyst Fibros 15(3):302\u2013308. https:\/\/doi.org\/10.1016\/j.jcf.2016.04.001","journal-title":"J Cyst Fibros"},{"issue":"4","key":"666_CR14","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1007\/s10897-011-9355-z","volume":"20","author":"D McGee","year":"2011","unstructured":"McGee D, Strange C, McClure R, Schwarz L, Erven M (2011) The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns 20(4):330\u2013336. https:\/\/doi.org\/10.1007\/s10897-011-9355-z","journal-title":"J Genet Couns"},{"issue":"3","key":"666_CR15","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.jcf.2006.09.001","volume":"6","author":"J Moran","year":"2007","unstructured":"Moran J, Quirk K, Duff AJA, Brownlee KG (2007) Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents. J Cyst Fibros 6(3):250\u2013254. https:\/\/doi.org\/10.1016\/j.jcf.2006.09.001","journal-title":"J Cyst Fibros"},{"issue":"1","key":"666_CR16","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1002\/jgc4.1457","volume":"31","author":"CB Nesbit","year":"2022","unstructured":"Nesbit, C. B., Pollack, C. C., Mascia, N. S., LaCroix, V. H., Applebee, D. M., Bosco, A. W., . . . Evans, R. H. (2022). Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single U.S. academic medical center. J Genet Couns, 31(1), 109-119. https:\/\/doi.org\/10.1002\/jgc4.1457","journal-title":"J Genet Couns"},{"issue":"5","key":"666_CR17","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1542\/peds.101.5.851","volume":"101","author":"RB Parad","year":"1998","unstructured":"Parad RB (1998) Buccal cell DNA Mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement. Pediatrics 101(5):851\u2013855. https:\/\/doi.org\/10.1542\/peds.101.5.851","journal-title":"Pediatrics"},{"issue":"1","key":"666_CR18","doi-asserted-by":"publisher","first-page":"e23523","DOI":"10.2196\/23523","volume":"10","author":"M Raspa","year":"2021","unstructured":"Raspa M, Moultrie R, Toth D, Haque SN (2021) Barriers and facilitators to genetic service delivery models: scoping review. Interact J Med Res 10(1):e23523. https:\/\/doi.org\/10.2196\/23523","journal-title":"Interact J Med Res"},{"key":"666_CR19","doi-asserted-by":"publisher","unstructured":"Rehani MR, Marcus MS, Harris AB, Farrell PM, Ren CL (2022) Variation in cystic fibrosis newborn screening algorithms in the United States. Pediatr Pulmonol. https:\/\/doi.org\/10.1002\/ppul.26279","DOI":"10.1002\/ppul.26279"},{"issue":"6","key":"666_CR20","doi-asserted-by":"publisher","first-page":"1692","DOI":"10.1542\/peds.2004-0275","volume":"115","author":"A Tluczek","year":"2005","unstructured":"Tluczek A, Koscik RL, Farrell PM, Rock MJ (2005) Psychosocial risk associated with newborn screening for cystic fibrosis: parents' experience while awaiting the sweat-test appointment. Pediatrics 115(6):1692\u20131703. https:\/\/doi.org\/10.1542\/peds.2004-0275","journal-title":"Pediatrics"},{"issue":"6","key":"666_CR21","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1097\/00125817-200111000-00006","volume":"3","author":"PG Wheeler","year":"2001","unstructured":"Wheeler PG, Smith R, Dorkin H, Parad RB, Comeau AM, Bianchi DW (2001) Genetic counseling after implementation of statewide cystic fibrosis newborn screening: two years' experience in one medical center. Genetics in Medicine 3(6):411\u2013415. https:\/\/doi.org\/10.1097\/00125817-200111000-00006","journal-title":"Genetics in Medicine"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-023-00666-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-023-00666-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-023-00666-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,16]],"date-time":"2023-12-16T03:14:31Z","timestamp":1702696471000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-023-00666-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,1]]},"references-count":21,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["666"],"URL":"https:\/\/doi.org\/10.1007\/s12687-023-00666-8","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-2692378\/v1","asserted-by":"object"}]},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,1]]},"assertion":[{"value":"14 March 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2023","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Update","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The supplementary file of the article contained some track changes. This has been replaced with a clean version.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Approval to conduct this human subject research was obtained by the Medical University of South Carolina institutional review board.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}