Outcomes of infants born during the first 9 years of CF newborn screening in the United States: A retrospective Cystic Fibrosis Foundation Patient Registry cohort study

Abstract

Introduction Newborn screening (NBS) for cystic fibrosis (CF) was implemented in all US states and DC by 2010. This hypothesis‐generating study was designed to form the basis of additional analyses and to plan quality improvement initiatives. The aims were to describe the outcomes of infants with CF born during the first 9 years of universal NBS. Methods We included participants in the CF Foundation Patient Registry born 2010–2018 with age of recorded CF diagnosis 0–365 days old. We compared the age of center‐reported diagnosis, age at first CF event (defined as earliest sweat test, clinic visit, or hospitalization), demographics, and outcomes between three cohorts born between 2010–2012, 2013–2015, and 2016–2018. Results In 6354 infants, the median age at first CF event decreased from the first to the third cohort. Weight‐for‐age (WFA) was < 10th percentile in about 40% of infants at the first CF Center visit. Median WFA z‐score at 1–2 years was more than 0 but height‐for‐age (HFA) z‐score was less than 0 through age 5–6 years. The second cohort had a higher HFA z‐score than the first cohort at age 5–6 years. Pseudomonas aeruginosa infection was less common in later cohorts. About 1/3 of infants were hospitalized in the first year of life with no changes over time. Conclusion Over 9 years of CF NBS, median age at first CF event decreased. CF NBS had positive health impacts, but early life nutritional deficits and a high rate of infant hospitalizations persist.

Vitamins A, D, E status as related to supplementation and lung disease markers in young children with cystic fibrosis

“…The limitations of our study include a paucity of African American and Hispanic CF patients and the use of α‐tocopherol concentrations in microgram per milliliter rather than adjusted with a serum lipid denominator. Although CF is traditionally been considered a genetic disease of Caucasians, patients diagnosed through NBS during the past decade have been recently shown to include 20% nonwhite children 47 . We made every effort to recruit minorities, particularly by expanding enrollment opportunities to include the Chicago area and approaching all eligible families for consent.…”

“…Although CF is traditionally been considered a genetic disease of Caucasians, patients diagnosed through NBS during the past decade have been recently shown to include 20% nonwhite children. 47 We made every effort to recruit minorities, particularly by expanding enrollment opportunities to include the Chicago area and approaching all eligible families for consent.…”

Cystic fibrosis year in review 2021

“…78 The first 9 years of NBS in the United States were reviewed in 6354 infants from the CFF PR. 79 The first event (defined as earliest SC test, clinic visit, or hospitalization) for NBS-positive infants was within the first 30 days for 77% yet 10% still had their age at first event at >60 days. The percent with age at first event beyond 60 days has decreased over the 9 years, from 11% in 2010-2012 to 7.8% in 2016-2018.…”

Cystic fibrosis year in review 2021

“…The first 9 years of NBS in the US were reviewed in 6,354 infants from the CFF PR 73 . The first event (defined as earliest SC test, clinic visit or hospitalization) for NBS positive infants was withing the first 30 days for 77% yet 10% still had their age at first event at >60 days.…”