Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis - 08/11/23
Doi : 10.1016/j.jpeds.2023.113595
Stacey L. Martiniano, MD, MSCS 1, 2, ⁎ 
, Runyu Wu, MS 3, Philip M. Farrell, MD 4, Clement L. Ren, MD, MBA 5, 6, Marci K. Sontag, PhD 7, Alexander Elbert, PhD 3, Susanna A. McColley, MD 8, 9
, Runyu Wu, MS 3, Philip M. Farrell, MD 4, Clement L. Ren, MD, MBA 5, 6, Marci K. Sontag, PhD 7, Alexander Elbert, PhD 3, Susanna A. McColley, MD 8, 9 1 University of Colorado School of Medicine, Aurora, CO
2 Breathing Institute, Children’s Hospital Colorado, Aurora, CO
3 Cystic Fibrosis Foundation, Bethesda, MD
4 University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI
5 University of Pennsylvania Perelman School of Medicine, Philadelphia, PA
6 Children’s Hospital of Philadelphia, Division of Pulmonary and Sleep Medicine, Philadelphia, PA
7 Center for Public Health Innovation, CI International, Littleton, CO
8 Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL
9 Northwestern University Feinberg School of Medicine, Chicago, IL
∗Reprint requests: Stacey L. Martiniano, MD, MSCS, 13123 E. 16th Ave B-395, Aurora, CO 80045.13123 E. 16th Ave B-395AuroraCO80045
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.
Le texte complet de cet article est disponible en PDF.Keywords : CFTR variants, newborn screening programs, sweat test
Abbreviations : AFE, CF, CFFPR, CFTR, NBS, SES
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Elsevier Inc. Tous droits réservés.
Vol 262
Article 113595- novembre 2023 Retour au numéro
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