Screening for Cystic Fibrosis improves Nutritional status and Pulmonary Outcomes of newborn babies

Newborn screening (NBS) for cystic fibrosis (CF) has been universal in the US since 2010, but its association with clinical outcomes is unclear.

A study was conducted to describe the real-world effectiveness of Newborn screening programs for cystic fibrosis in the US on outcomes up to age 10 years.

This was a retrospective cohort study using cystic fibrosis Foundation Patient Registry data from January 1, 2000, to December 31, 2018. The staggered implementation of Newborn screening programs by state was used to compare longitudinal outcomes among children in the same birth cohort born before vs after the implementation of Newborn screening for cystic fibrosis in their state of birth. Participants included children with an established diagnosis of cystic fibrosis born between January 1, 2000, to December 31, 2018, in any of the 44 states that implemented Newborn screening for CF between 2003 and 2010. Data were analyzed from October 5, 2020, to April 22, 2022.

Results of the study are:

• A total of 9571 participants (4713 female participants [49.2%]) were eligible for inclusion, with 4510 (47.1%) in the pre- Newborn screening cohort.
• Newborn screening was associated with higher weight and height percentiles in the first year of life, but these differences decreased with age.
• There was no association between Newborn screening and FEV1 at age 6 years, but the percent-predicted FEV1 did increase more rapidly with age in the post-NBS cohort.
• Newborn screening was associated with older age at chronic P aeruginosa infection but not initial P aeruginosa infection

Thus, Newborn screening for cystic fibrosis in the US was associated with improved nutritional status up to age 10 years, a more rapid increase in lung function, and delayed chronic P aeruginosa infection. In the future, as highly effective modulator therapies become available for infants with cystic fibrosis, Newborn screening will allow for presymptomatic initiation of these disease-modifying therapies before irreversible organ damage.

Reference:

Rosenfeld M, Ostrenga J, Cromwell EA, et al. Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes. JAMA Pediatr. Published online August 01, 2022. doi:10.1001/jamapediatrics.2022.2674