Document Detail

Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.
MedLine Citation:
PMID:  9395429     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Many patients with cystic fibrosis are malnourished at the time of diagnosis. Whether newborn screening and early treatment may prevent the development of a nutritional deficiency is not known. METHODS: We compared the nutritional status of patients with cystic fibrosis identified by neonatal screening or by standard diagnostic methods. A total of 650,341 newborn infants were screened by measuring immunoreactive trypsinogen on dried blood spots (from April 1985 through June 1991) or by combining the trypsinogen test with DNA analysis (from July 1991 through June 1994). Of 325,171 infants assigned to an early-diagnosis group, cystic fibrosis was diagnosed in 74 infants, including 5 with negative screening tests. Excluding infants with meconium ileus, we evaluated nutritional status for up to 10 years by anthropometric and biochemical methods in 56 of the infants who received an early diagnosis and in 40 of the infants in whom the diagnosis was made by standard methods (the control group). Pancreatic insufficiency was managed with nutritional interventions that included high-calorie diets, pancreatic-enzyme therapy, and fat-soluble vitamin supplements. RESULTS: The diagnosis of cystic fibrosis was confirmed by a positive sweat test at a younger age in the early-diagnosis group than in the control group (mean age, 12 vs. 72 weeks). At the time of diagnosis, the early-diagnosis group had significantly higher height and weight percentiles and a higher head-circumference percentile (52nd, vs. 32nd in the control group; P=0.003). The early-diagnosis group also had significantly higher anthropometric indexes during the follow-up period, especially the children with pancreatic insufficiency and those who were homozygous for the deltaF508 mutation. CONCLUSIONS: Neonatal screening provides the opportunity to prevent malnutrition in infants with cystic fibrosis.
P M Farrell; M R Kosorok; A Laxova; G Shen; R E Koscik; W T Bruns; M Splaingard; E H Mischler
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Publication Detail:
Type:  Clinical Trial; Comparative Study; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The New England journal of medicine     Volume:  337     ISSN:  0028-4793     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  1997 Oct 
Date Detail:
Created Date:  1997-10-02     Completed Date:  1997-10-02     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  963-9     Citation Subset:  AIM; IM    
Department of Pediatrics and Biostatistics, University of Wisconsin, Madison 53706, USA.
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MeSH Terms
Body Height
Body Weight
Cystic Fibrosis / complications,  diagnosis*,  physiopathology,  therapy
Infant, Newborn
Neonatal Screening*
Nutrition Disorders / etiology,  prevention & control*
Nutritional Status
Prospective Studies
Trypsinogen / blood
Grant Support
Reg. No./Substance:
Comment In:
N Engl J Med. 1997 Oct 2;337(14):997-9   [PMID:  9309107 ]

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