Journal Publication

Letter to the Editor
of Pediatrics in response to

Farrell PM, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics. (January 1 2001) 107: 1-13.

by Scott D. Grosse, Ph.D., Muin J. Khoury M.D., Ph.D., W. Harry Hannon, Ph.D., Coleen A. Boyle, Ph.D.
Print version

Farrell et al. demonstrate that children with cystic fibrosis identified through newborn screening are significantly less likely to experience growth retardation, although no less likely to experience acute malnutrition as indicated by low weight-for-height.¹ They conclude that this evidence is sufficient to justify screening newborns for CF and cite a 1997 workshop convened at CDC as supporting this recommendation, “Therefore, we suggest that more regions begin to initiate such screening programs, as recommended by the Centers for Disease Control and Prevention.”[i]

The participants in the 1997 CDC workshop, “Newborn Screening for Cystic Fibrosis: A Paradigm for Public Health Genetics Policy Development,” recommended that several states consider initiating screening for CF as pilot projects to gather data.²In particular, it was recommended, “Pilot CF screening programs for newborns should be approached and promoted as research endeavors, for which participation is not mandatory and informed consent is emphasized.”

CDC’s position, stated in the 1997 workshop report, is that evidence of improved nutritional status without improved health or developmental status is not sufficient to recommend state newborn screening programs include CF in a standard panel of tests:

before recommending universal CF screening for newborns as a routine public health intervention, policymakers will need more compelling data about its effectiveness. This evidence might include a better description of the consequences of delayed diagnosis, information regarding cognitive development differences caused by malnutrition, data establishing pulmonary benefits of early diagnosis, and the cost-effectiveness of early diagnosis through screening.

The evidence for newborn screening for cystic fibrosis remains inconclusive 4 years after the CDC workshop. To date, we have not seen published data from a controlled trial that early detection can slow the deterioration of lung function in children with CF.One outcome that has been shown to not differ with early identification of CF is acquisition of Pseudomonas aeruginosa, the major pathogen contributing to pulmonary disease and decline in pulmonary function in CF patients.^3,4We would welcome the publication of data from the Wisconsin study on cognitive outcomes, cost savings, or medical or psychosocial benefits of early diagnosis that could clearly demonstrate a public health rationale for screening newborns for CF.>

1. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics. 2001;107:1-13.
2. Cono J, Qualls NL, Khoury MJ, et al. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop. MMWR Morb Mortal Wkly Rep.1997 Dec 12;46(RR16):1-22.
3. Farrell P, Shen G, Splaingard M, et al. Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis. Pediatrics. 1997;100(5):e2.
4. Wang SS, FitzSimmons SC, O'Leary LA, et al. Early diagnosis of cystic fibrosis in the newborn period and risk of Pseudomonas aeruginosa acquisition in the first 10 years of life: a registry-based longitudinal study. Pediatrics. 2001;107:274-9.