{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T10:03:20Z","timestamp":1791453800129,"version":"4.3.3"},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T00:00:00Z","timestamp":1714608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>New York State (NYS) utilizes a three\u2010tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (<jats:italic>CFTR<\/jats:italic>) gene sequencing. Infants with &gt;1 <jats:italic>CFTR<\/jats:italic> variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis\u00a0(CF) Specialty Care Centers (SCCs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS\u2010positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: <jats:italic>CFTR<\/jats:italic>\u2010related metabolic syndrome\/CF screen positive, inconclusive diagnosis (CRMS\/CFSPID) or CF carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 194\/289 (67.1%) had <jats:italic>CFTR<\/jats:italic> phasing to confirm whether the infant's <jats:italic>CFTR<\/jats:italic> variants were in <jats:italic>cis<\/jats:italic> or in <jats:italic>trans<\/jats:italic>. Eighteen complex alleles were identified in <jats:italic>cis<\/jats:italic>; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty\u2010two\u00a0infants (16.5%) with all variants in <jats:italic>cis<\/jats:italic> were reclassified as CF carriers rather than CRMS\/CFSPID. Among 263 infants evaluated at an\u00a0NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96\/263 (36.5%) counseled by a certified genetic counselor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have <jats:italic>CFTR<\/jats:italic> phasing when needed to distinguish carriers from infants with CRMS\/CFSPID, and access to genetic counseling to address implications of CFNBS results.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.27023","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T13:03:32Z","timestamp":1714655012000},"page":"1952-1961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic counseling access and service delivery in New York State is variable for parents of infants with complex <i>CFTR<\/i> genotypes conferring uncertain phenotypes"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-2698","authenticated-orcid":false,"given":"Denise M.","family":"Kay","sequence":"first","affiliation":[{"name":"Newborn Screening Program, Division of Genetics, Wadsworth Center New York State Department of Health Albany New York 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