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. 2021 Dec;56(12):3758-3767.
doi: 10.1002/ppul.25658. Epub 2021 Sep 13.

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

Stacey L Martiniano  1   2 , Alexander A Elbert  3 , Philip M Farrell  4 , Clement L Ren  5   6 , Marci K Sontag  1   7 , Runyu Wu  3 , Susanna A McColley  8   9
Affiliations

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

Stacey L Martiniano et al. Pediatr Pulmonol. 2021 Dec.

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.

Keywords: cystic fibrosis; diagnosis; newborn screening; quality improvement.

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References

REFERENCES

    1. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system: executive summary. Pediatrics. 2006;117(5 Pt 2):S296-S307.
    1. Newborn Screening Timeliness Goals. 2017. Accessed November 24, 2020. https://hrsa.gov/advisory-committees/heritable-disorders/newborn-screeni...
    1. Sontag MK, Miller JI, McKasson S, et al. Newborn screening timeliness quality improvement initiative: impact of national recommendations and data repository. PLoS One. 2020;15(4):e0231050.
    1. Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr. 2005;147(3 suppl):S83-S88.
    1. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53(RR-13):1-36.

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