Cystic fibrosis screen-positive neonates with one pathogenic variant still warrant sweat testing

Pediatr Pulmonol. 2023 Nov;58(11):3342-3345. doi: 10.1002/ppul.26621. Epub 2023 Jul 28.

Authors

Michael J Rock¹, Mei Baker^{1

2}, Philip M Farrell¹

Affiliations

¹ Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
² Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

PMID: 37503874
DOI: 10.1002/ppul.26621

No abstract available

Keywords: cystic fibrosis; equity; newborn screening; next generation sequencing.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Chlorides
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis* / diagnosis
Cystic Fibrosis* / genetics
Humans
Infant, Newborn
Mutation
Neonatal Screening
Sweat

Substances

Cystic Fibrosis Transmembrane Conductance Regulator
Chlorides