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Home All Specialties Chronic Disease

Newborn screening for cystic fibrosis improves nutritional outcomes

byVincent SoandAlex Gipsman, MD
August 18, 2022
in Chronic Disease, Gastroenterology, Genetics, Infectious Disease, Pediatrics, Public Health, Pulmonology
Reading Time: 3 mins read
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 1. In this retrospective study, newborn screening for cystic fibrosis in the United States lead to improve nutritional status with higher weight and height percentiles in the first year of life, and delayed chronic Pseudomonas aeruginosa infection.

2. Cystic fibrosis newborn screening was associated with more rapid increase in pulmonary function with age, although the trend was not statistically significant.

Evidence Rating Level: 2 (Good)

Study Rundown: Newborn screening (NBS) is an important component of neonatal care for early intervention and improvement of long-term outcomes. Cystic fibrosis is an autosomal recessive disorder that was implemented into NBS programs across the United States between 2006-2010. The real-world effectiveness of the NBS for CF program on outcomes across the United States is largely unknown. This study aimed to investigate clinical outcomes in the cohort before and after the implementation of NBS for CF using a retrospective cohort study design. Of the eligible participants, 4510 were included in the pre-NBS group, and 5061 were in the post-NBS group. NBS was associated with higher weight and height percentiles in the first year for life, which has previously been associated with improved long-term pulmonary function. In addition, NBS was associated with older age at the time of chronic lung infection with P. aeruginosa. Despite these improvements, there is no clear association with NBS and improvements in lung function up to 10 years of age. Some limitations include a smaller sample size for lung function analyses, as pulmonary function tests were limited to children older than the age of 6 years old (2/3 of cohort), limiting the statistical power to detect possible differences. In addition, the follow-up was limited to age of 10 years and may not address long-term outcomes associated with NBS given the recent implementation of the program. Overall, NBS for CF in the United States is associated with improved nutritional status and possibly improved pulmonary function in the short-term.

Click here to read the article in JAMA Pediatrics

Relevant Reading: Early life height attainment in cystic fibrosis is associated with pulmonary function at age 6 years

In Depth (retrospective cohort): This study included patients from the CF Foundation Patient Registry data born between January 1, 2000, and December 31, 2018, with a diagnosis of CF before the age of 10 years old in any of the 44 states and the District of Columbia. Of 14,885 registry patients, 9571 were eligible and divided into 4510 pre-NBS group and 5061 post-NBS group. Of the 9571 eligible patients, 6560 participants had FEV1 (forced expiratory volume in 1 second)  percent predicted data. When assessing nutritional outcomes, the median annualized weight and height percentiles were higher in the post-NBS cohort than in the pre-NBS cohort, that persisted but was attenuated by age. Measures of lung function such as FEV1 percent predicted was similar across age groups between pre- and post-NBS groups, although there was a nonsignificant increase of in percent predicted FEV1 with a 0.8% increase at 6 years of age (95% CI, −1.1% to 2.9%) and a 2.6% (95% CI, 0.7%- 4.6%) increase at 10 years of age in the post-NBS group compared to pre-NBS group. In addition, the implementation of NBS was associated with older age at chronic P aeruginosa infection with a hazard ratio (HR) of 0.69; 95%CI,0.54-0.89 in the post-NBC group compared to a hazard ratio of 0.88 (95% CI, 0.77-1.01) in the pre-NBS group.

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Image: PD

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Tags: cystic fibrosisnewborn screenpseudomonas
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