Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis

Stacey L Martiniano; Runyu Wu; Philip M Farrell; Clement L Ren; Marci K Sontag; Alexander Elbert; Susanna A McColley

doi:10.1016/j.jpeds.2023.113595

Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis

J Pediatr. 2023 Nov:262:113595. doi: 10.1016/j.jpeds.2023.113595. Epub 2023 Jul 3.

Authors

Stacey L Martiniano¹, Runyu Wu², Philip M Farrell³, Clement L Ren⁴, Marci K Sontag⁵, Alexander Elbert², Susanna A McColley⁶

Affiliations

¹ University of Colorado School of Medicine, Aurora, CO; Breathing Institute, Children's Hospital Colorado, Aurora, CO. Electronic address: stacey.martiniano@childrenscolorado.org.
² Cystic Fibrosis Foundation, Bethesda, MD.
³ University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI.
⁴ University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Children's Hospital of Philadelphia, Division of Pulmonary and Sleep Medicine, Philadelphia, PA.
⁵ Center for Public Health Innovation, CI International, Littleton, CO.
⁶ Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL.

PMID: 37406853
DOI: 10.1016/j.jpeds.2023.113595

Abstract

Newborn screening for cystic fibrosis was fully implemented in the US by 2010, but delays in timeliness of evaluation for infants with positive newborn screening tests persist. Through evaluation of national patient registry data, we determined that late initiation of cystic fibrosis care is associated with poorer long-term nutritional outcomes.

Keywords: CFTR variants; newborn screening programs; sweat test.

Publication types

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

MeSH terms

Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis* / diagnosis
Delayed Diagnosis
Humans
Infant
Infant, Newborn
Mutation
Neonatal Screening
Outcome Assessment, Health Care

Substances

Cystic Fibrosis Transmembrane Conductance Regulator