Cystic fibrosis is a common, fatal genetic disease in which a gene causes the body to produce abnormally thick, sticky mucus. This affects mainly the lungs, causing severe breathing problems, and the digestive system, causing inadequate digestion and absorption of nutrients. In the United States, approximately 30,000 people have cystic fibrosis and roughly one child of every 3,500 is born with it. The Journal of Pediatrics has published a special supplement on current experience in treating cystic fibrosis and the benefit of newborn screening for cystic fibrosis. The supplement consists of 23 commentaries, reviews, and original research papers derived from a workshop held in Atlanta, Georgia, November 20-21, 2003, co-sponsored by the Centers for Disease Control and Prevention and the Cystic Fibrosis Foundation. In addition, the regular issue of The Journal includes 11 articles on cystic fibrosis that cover such topics as a reduction in birth rates since the onset of genetic testing, decreased birth weights and increased risk of preterm birth, an alternative strategy for screening newborns at reduced cost, and projects intended to improve life expectancy and quality of life through consistent, high-quality care.
Reduction in birth rates
A paper from Canada comments on a reduction in cystic fibrosis birth rates that has been observed since the onset of genetic testing. The paper, from Anne Dupuis and colleagues at the Hospital for Sick Children, Toronto, and Dalhousie University, Nova Scotia, shows that the overall cystic fibrosis birth rate was stable from 1971-1987 and, beginning in 1988, one year after identification of the cystic fibrosis transmembrane conductance regulator gene, birth rates started a linear decline to an estimated rate of 1 in 3,608. Cystic fibrosis birth rates appear to have stabilized in the last few years, but the authors speculate that further decline may occur with implementation of carrier screening in the genera
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3-Oct-2005
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