Research

Dr. Farrell with a young cystic fibrosis patient diagnosed through newborn screening

Research Overview

Dr. Farrell has had a long-standing interest in pediatric nutrition, especially in infants with respiratory disorders such as hyaline membrane disease and cystic fibrosis (CF).

He has published numerous articles on the epidemiology and effects of nutrient deficiencies in preterm infants and patients with CF, and on the benefits and challenges associated with newborn screening programs for this disease.

View NACFC 2008 presentation on CF Newborn Screening (PDF)

View presentation on CF Newborn Screening (PDF)

View links to abstracts of Dr. Farrell's publications (via PubMed)

Current Research Program

Dr. Farrell in his research lab

Dr. Farrell’s current research program is entitled “Assessment of the Benefits and Risks of Cystic Fibrosis Neonatal Screening.”

The stimulus for this unique investigation, initiated in 1984, came from his experiences as a practicing neonatologist and pediatric pulmonologist. He fully appreciated the difficulties in diagnosing CF, despite its relatively high incidence among autosomal recessive hereditary diseases.

This randomized clinical trial, which has received continued National Institutes of Health support for more than 20 years, involves 650,340 newborns throughout the state of Wisconsin. It has become the largest prospective pediatric research project since the polio vaccine field trials of 1954. A related study, supported by a grant from the US Cystic Fibrosis Foundation (CFF), analyzes psychosocial outcomes after newborn screening.

Read detailed description of "Assessment of the Benefits and Risks of Cystic Fibrosis Neonatal Screening"

Results

Results obtained thus far have elucidated epidemiologic characteristics of CF and unequivocally demonstrated significant nutritional benefits without revealing any long-term risks.

The nutritional advantages of neonatal screening, published in The New England Journal of Medicine (337:963-969,1997) include greater height, weight, and head circumference. This randomized trial has also demonstrated unequivocally that malnutrition can be prevented in children with CF by a combination of neonatal diagnosis through screening and aggressive nutritional intervention (Pediatrics 107:1-12, 2001).

In 2004, the Centers for Disease Control, in association with the CFF, concluded that the Wisconsin investigation and others have generated enough evidence to recommend national screening of newborns for CF. This recommendation was published in the CDC's October 15, 2004 issue of Morbidity and Mortality Weekly Report.