Impact of Newborn Screening on Nutritional Status in Cystic Fibrosis
Max Rubinstein
Benjamin A. Nelson
Early Diagnosis of Cystic Fibrosis Through Neonatal Screening Prevents Severe Malnutrition and Improves Long-Term Growth
Farrell PM, Kosorok MR, Rock MJ, et al. Pediatrics. 2001;107(1):1–13
Background
Cystic fibrosis (CF) was historically difficult to diagnose; in 1996, the mean age of diagnosis in the US was 4.8 years. Delays in starting appropriate treatment are associated with more severe lung disease, malnutrition, and earlier mortality. Neonatal CF screening (via immunoreactive trypsinogen [IRT] measurement techniques) was first introduced in the 1970s and optimized with genetic testing in the 1990s, leading to early identification of most children with CF. However, at the time of this study, widespread early screening had not been adopted due to lack of evidence of potential health benefits.
Objectives
To determine the incidence of CF and assess the benefits and risks of early CF diagnosis through newborn screening.
Methods
Randomized clinical trial at multiple centers in 1 US state from 1985 to 1994.
Patients
650,341 newborns were enrolled. Select exclusion criterion: meconium ileus.
Intervention
IRT levels were obtained on all specimens, with the addition of ΔF508 mutation DNA testing in 1991. In the early screening group, positivity of either test was confirmed with sweat testing. In the control group, results were stored blinded until parental request for results or until patient reached age 4. After diagnosis, patients were encouraged to eat high-calorie/high-fat diets, provided vitamins and supplements, and followed closely for up to 13 years. Assessments for pancreatic insufficiency, fat malabsorption, and vitamin deficiency were performed.
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