Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis

Barreda, C.; Farrell, Philip M.; Laxova, Anita; Eickhoff, Jens; Braun, Andrew; Coller, Ryan J.; Rock, Michael J.

doi:10.1016/j.jcf.2020.06.002

Cited by 11 publications

(15 citation statements)

References 27 publications

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“…More than one‐third of infants were hospitalized in the first year of life, and this did not change between the cohorts. The most common cause of hospitalization was pulmonary exacerbation, consistent with reports of clinically relevant lung disease in infants with CF diagnosed through NBS 31–33 . Hospitalizations in older children decreased over time.…”

Section: Discussionsupporting

confidence: 80%

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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

Martiniano

Elbert

Farrell

et al. 2021

Pediatric Pulmonology

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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.

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Section: Discussionsupporting

confidence: 80%

“…The most common cause of hospitalization was pulmonary exacerbation, consistent with reports of clinically relevant lung disease in infants with CF diagnosed through NBS. [31][32][33] Hospitalizations in older children decreased over time. PA infection decreased over time and in all age groups, similar to previously published reports.…”

Section: Discussionmentioning

confidence: 99%

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

Martiniano

Elbert

Farrell

et al. 2021

Pediatric Pulmonology

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“…Barreda et. al did not see any improvement of FEV1 in children diagnosed by NBS at age 7 years 23 . Yet this study is difficult to compare to more recent analyses since it analyzed children diagnosed between 1985 and 1994.…”

Section: Discussionmentioning

confidence: 82%

The First 4 Years – Outcome of Children Identified by Newborn Screening for CF in Germany

et al. 2022

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Background Newborn screening (NBS) has been shown to improve cystic fibrosis (CF) disease course and has been widely implemented worldwide. This monocentric study compared children diagnosed by NBS vs. a cohort preceding the implementation of NBS in Germany in 2016 to evaluate ascribed benefits of NBS. Methods We compared all children with confirmed CF diagnosis (n=19, “NBS group”) out of all children presenting with positive NBS at our center after implementation of NBS (n=100) to children diagnosed with CF at our center within 4 years before NBS implementation (n=29, “pre-NBS group”) for outcomes of anthropometry, gastrointestinal and pulmonary disease manifestations and respiratory microbiology. Results Children diagnosed by NBS had a lower incidence of initial difficulty to thrive (15 vs. 41%) and showed higher mean z-scores for Body-Mass-Index (BMI), weight and length at diagnosis and during study period. Children in the pre-NBS group displayed higher proportions of oxygen-dependent pulmonary exacerbations (10 vs. 0%). They show a significantly lower amount of normal bacterial flora (p=0.005) along with a significantly higher number of throat swab cultures positive for Pseudomonas aeruginosa (p=0.0154) in the first year of life. Yet, pulmonary imaging did not reveal less pulmonary morbidity in the NBS group. Conclusions Our results confirm that NBS for CF leads to earlier diagnosis and improves nutritional outcomes in early childhood. Although trajectories of structural lung damage at early age were unaffected by NBS, NBS positive CF patients at preschool age displayed less pulmonary exacerbations and pathological bacteria in throat swabs.

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“…It was notable that 40% of these infants had a weight for age of <10% at their first visit, demonstrating early evidence of nutritional concern. This evaluation of NBS over time in the US serves as a reminder to clinicians of the importance of early diagnosis/evaluation (prior to 30 days of age) and the critical importance of nutritional monitoring Long term follow-up regarding the benefits of NBS were explored in PwCF diagnosed as part of the Wisconsin CF Neonatal Screening Project who have been followed up to 26 years 75 . No difference in mortality was seen at age 25 (89% of screened vs. 85% diagnosed symptomatically).…”

Section: Newborn Screeningmentioning

confidence: 99%

Cystic fibrosis year in review 2021

Savant

2022

Preprint

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People with cystic fibrosis (CF) have an amazing outlook with the treatment availability of highly effective modulators. Unfortunately, not all PwCF are eligible for modulators leading to continued pulmonary exacerbations and advanced lung disease. Additionally, optimizing diagnosis and evaluation for CF in the newborn period continues to be an area of focus for research. This review article will work to cover articles published in 2021 with high clinical relevance related to the above topics, however due to the extensive body of research published, this review will not be comprehensive.

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Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis

Cited by 11 publications

References 27 publications

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

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

The First 4 Years – Outcome of Children Identified by Newborn Screening for CF in Germany

Cystic fibrosis year in review 2021

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