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

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  1 , Runyu Wu  2 , Philip M Farrell  3 , Clement L Ren  4 , Marci K Sontag  5 , Alexander Elbert  2 , Susanna A McColley  6
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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 et al. J Pediatr. 2023 Nov.

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.

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Conflict of interest statement

Declaration of Competing Interest A.E. and R.W. are employees of the Cystic Fibrosis Foundation. Supported by the Cystic Fibrosis Foundation (MCCOLL19QI0). The other authors declare no conflicts of interest.

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