Neonatal screening provides the opportunity to prevent malnutrition in infants with cystic fibrosis.

hepatic 25-hydroxylation of vitamin D and that alcohol, while having no effect on 25 OH D production in adult livers, inhibits synthesis in pup livers. Alcohol-mediated decreases in pup hepatic 25 OH D production as well as decreases in 25 OH D transport from mother to fetus (13) Printed in U. S. A. Fatty Acid Abnormalities in Cystic Fibrosis PHILIP M. FARRELL, ELAINE H. MISCHLER, MICHAEL J. ENGLE, D. JEANNETTE BROWN, AND SZE-ME1 LAU Departments of Pediatrics and Nutritional Sciences, University of Wisconsin-Madison, Madison, Wisconsin 53792ABSTRACT. Fatty acids were measured by gas chromatography in lipid extracts of plasma and tissues obtained from three categories of 46 patients with cystic fibrosis. Low levels of the major essential fatty acid linoleate were found in plasma total lipids of patients who had malabsorption but not in those without evidence of steatorrhea. Circulating arachidonic acid was only slightly decreased, and the unusual triene reflecting pathologically altered fatty acid metabolism (20:3w9) was generally not detected, nor was the trieneltetraene ratio abnormal except for in Received February 1, 1984; accepted August 24, 1984 of malabsorption, namely plasma carotene (r = 0.64) and fecal fat excretion (r = 0.76). Our data therefore indicate that the abnormality in linoleate is associated with (secondary to) malabsorption of dietary fat despite pancreatic enzyme replacement therapy and consumption of a regular diet. The frequency of this alteration was determined to be quite high in 40 patients with steatorrhea, 85% of whom showed values below the lower limit of normal for plasma linoleate. It was of interest to find markedly decreased levels of linoleate in adipose tissue, cardiac muscle, and lung and lesser reductions in liver and psoas muscle taken at autopsies. Tissue arachidonic acid percentage was normal, however, and 20:3w9 was rarely present. Thus, the physiological significance of this common abnormality in

We conclude that CF neonatal screening does not have a significant impact on the reproductive behavior of most families and that prenatal diagnosis is not used by the majority of CF families. IRT/DNA testing experiences seem to affect attitudes about having more children, and some parents are confused about the implications of the results, even with genetic counseling. However, persistent concerns about the sweat test result are limited. Questions raised by this study confirm the need for more research regarding the process of genetic counseling and its impact on reproductive attitudes and behavior in the newborn screening setting.

ABSTRACT. Objective. This study was pursued as an extension of a randomized clinical investigation of neonatal screening for cystic fibrosis (CF). The project included assessment of respiratory secretion cultures for pathogens associated with CF. The objective was to determine whether patients diagnosed through neonatal screening and treated in early infancy were more likely to become colonized with Pseudomonas aeruginosa compared with those identified by standard diagnostic methods.Methodology. The design involved prospective cultures of respiratory secretions obtained generally by oropharyngeal swabs at least every 6 months and more often if clinically indicated. Patients were managed with a standardized evaluation and treatment protocol at the two Wisconsin certified CF centers; however, there were community and environmental variations associated with the follow-up period as described below.Results. Overall, there were no differences in acquisition of respiratory pathogens between the screened and the control (standard diagnosis) groups. Evaluation of the data between and within the two centers, however, revealed significant differences with earlier acquisition of P aeruginosa in the center with the following distinguishing characteristics: urban location; following patients with the standard US approach in which newly diagnosed, young children were interspersed with older CF patients; and where there were more opportunities for social interactions with other CF patients. The differences were confined to the screened group followed in the urban center in which the median pseudomonas-free survival period was 52 weeks contrasted with 289 weeks in the other center. In addition, assessment of data for the entire CF populations followed at the two centers revealed that the urban center showed a significantly higher prevalence of P aeruginosa colonization in patients between the ages of 3 and 9 years.Conclusions. These results present questions and generate hypotheses on risk factors for acquisition of P aeruginosa in CF and suggest that clinic exposures and/or social interactions may predispose such patients to pseudomonas infections. Pediatrics 1997;100(5). URL: http://www.pediatrics.org/cgi/content/full/100/5/e2; cystic fibrosis, Pseudomonas aeruoginosa, transmission, epidemiology, pulmonary disease.

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