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Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant Still Warrant Sweat Testing
  • Michael Rock,
  • Mei Baker,
  • Philip Farrell
Michael Rock
University of Wisconsin-Madison Department of Pediatrics

Corresponding Author:[email protected]

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Mei Baker
University of Wisconsin-Madison Department of Pediatrics
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Philip Farrell
University of Wisconsin-Madison Department of Pediatrics
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Abstract

We believe that the data in this letter clearly demonstrate that even with CFTR2 expansion to 719 variants, striving to achieve equity of early diagnosis of CF via screening requires states to perform a sweat test in all infants with a high IRT level and one identified CFTR variant. This recommended policy can be debated but sweat testing overload should not be the argued as the barrier and CF specialists need to recognize that CFTR2 may never include all of the very rare, “private” pathogenic variants nor will next generation sequencing cover the structural variants such as deletions and duplications.
10 Jul 2023Submitted to Pediatric Pulmonology
11 Jul 2023Submission Checks Completed
11 Jul 2023Assigned to Editor
11 Jul 2023Review(s) Completed, Editorial Evaluation Pending
15 Jul 2023Editorial Decision: Revise Minor
18 Jul 20231st Revision Received
18 Jul 2023Review(s) Completed, Editorial Evaluation Pending
18 Jul 2023Submission Checks Completed
18 Jul 2023Assigned to Editor
22 Jul 2023Editorial Decision: Accept