Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

doi:10.1542/peds.2021-051740

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Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

Pediatrics - 1 Dec 2021

Gonska Tanja, Keenan Katherine, Au Jacky, Dupuis Annie, Chilvers Mark A, Burgess Caroline, Bjornson Candice, Fairservice Lori, Brusky Janna, Kherani Tamizan, Jober Amanda, Kosteniuk Lorna, Price April, Itterman Jennifer, Morgan Lenna, Mateos-Corral Dimas, Hughes Daniel, Donnelly Christine, Smith Mary Jane, Iqbal Shaikh, Arpin Jocelyn, Reisman Joe, Hammel Joanne, van Wylick Richard, Derynck Michael, Henderson Natalie, Solomon Melinda, Ratjen Felix

Abstract excerpt

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach...

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PMID: 34814176
DOI: 10.1542/peds.2021-051740

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