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. 2021 May;20(3):492-498.
doi: 10.1016/j.jcf.2020.06.002. Epub 2020 Jun 13.

Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis

Christina B Barreda  1 , Philip M Farrell  2 , Anita Laxova  3 , Jens C Eickhoff  4 , Andrew T Braun  5 , Ryan J Coller  6 , Michael J Rock  7
Affiliations

Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis

Christina B Barreda et al. J Cyst Fibros. 2021 May.

Abstract

Background: The Wisconsin Cystic Fibrosis Neonatal Screening Project was a randomized clinical trial (RCT) revealing that children receiving an early diagnosis of CF via newborn screening (NBS) had improved nutritional outcomes but similar lung disease severity compared to those who presented clinically. Because the evaluations of these subjects by protocol ended in 2012, our objective was to assess long-term pulmonary and mortality outcomes.

Methods: Retrospective analysis of the RCT cohort utilized longitudinal outcome measures obtained from the Cystic Fibrosis Foundation Patient Registry (CFFPR). Data included screening assignment, clinical characteristics, percent predicted forced expiratory volume in 1 s (ppFEV1) and mortality. A random intercept model was used to compare the ppFEV1 decline of subjects between the two groups up to age 26 years. Mortality was analyzed using the Kaplan-Meier method.

Results: Of the 145 subjects who consented to the original study, 104 subjects met inclusion criteria and had adequate data in the CFFPR. Of 57 subjects in the screened group and 47 in the control group, the rates of ppFEV1 decline were 1.76%/year (95% CI 1.62 to 1.91%) and 1.43%/year (95% CI 1.26 to 1.60%), respectively (p<0.0002). Pseudomonas aeruginosa acquired before 2 years was partially responsible. There was no difference in mortality between the two groups.

Conclusions: NBS alone does not improve pulmonary outcomes in CF, particularly when other risk factors supervene. In an era prior to strict infection control and current therapies, NBS for CF may be associated with worse pulmonary outcomes.

Keywords: Cystic fibrosis; Forced expiratory volume; Mortality; Newborn screening; Phenotype; Pseudomonas aeruginosa.

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Conflict of interest statement

Declaration of Competing Interest The authors have no conflicts of interest relevant to this article to disclose.

Figures

Figure 1:
Figure 1:
Consort diagram
Figure 2.
Figure 2.
Smoothing Splines of Predicted Values and Corresponding 95% Confidence Interval Limits of Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Over Time in Screened Group and Control Group between age 7 and 26 years old
Figure 3:
Figure 3:
Kaplan-Meier Curve for Overall Survival
See this image and copyright information in PMC

References

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