Elsevier

The Journal of Pediatrics

Volume 149, Issue 3, September 2006, Pages 362-366
The Journal of Pediatrics

Original article
Potential impact of newborn screening for cystic fibrosis on child survival: A systematic review and analysis

https://doi.org/10.1016/j.jpeds.2006.04.059Get rights and content

Objective

To estimate the population impact of child mortality as a result of cystic fibrosis (CF) potentially preventable by newborn screening.

Study design

A systematic literature review of mortality in children with classic CF without meconium ileus (MI) in screened and unscreened cohorts was extended by contacting investigators for unpublished data. In addition, survival in US states with and without newborn screening (NBS) programs for CF was compared using data from the Cystic Fibrosis Foundation Patient Registry (CFFPR).

Results

Among non-US studies, CF-related mortality risk to approximately 10 years of age was lower by 5 to 10 per 100 in screened cohorts. Unpublished US data from a trial of NBS for CF indicate no CF-related deaths to 10 years of age in either cohort. CFFPR data suggest improved survival among children with CF born in US states with NBS, with a CF-related mortality difference to 10 years of age between the screened and unscreened groups between 1.5 and 2 per 100 children with CF without MI.

Conclusion

In addition to improving nutritional outcomes, newborn screening for CF may result in improved child survival. The absolute differential in mortality risk, although modest in size, appears comparable to NBS for certain other genetic disorders.

Section snippets

Methods

In preparation for the 2003 workshop, the scientific literature from 1997 through July 2003 was reviewed via a search of Medline for articles with abstracts addressing “newborn screening” and “cystic fibrosis” published in English or French. A total of five studies that investigated outcomes in screened cohorts or mixed cohorts of screened and unscreened children with CF were identified.12, 13, 14, 15, 16 Subsequent searches of Medline yielded one additional publication of original data.17 In

Review

The strongest evidence for causality in terms of health outcomes of screening comes from randomized controlled trials (RCTs). In the United Kingdom, all babies born in Wales and the West Midlands during 1985 to 1989 were randomly allocated to undergo or not undergo CF screening on an alternate-week basis.22 The study did not have a standard treatment or follow-up protocol, and ascertainment in the unscreened group was incomplete. Investigators subsequently reviewed registry and death

Discussion

CF NBS has not been considered by policy makers as a life-saving intervention, unlike screening for certain disorders, such as sickle cell disease (SCD) or galactosemia.28 Previous reviewers have expressed skepticism that NBS for CF is likely to reduce CF-related mortality.2, 3 The CDC report noted that several studies had found lower mortality in screened cohorts, but it raised questions about statistical significance and potential publication bias.11 On the other hand, the finding of improved

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