Newborn screening for cystic fibrosis: the practical implications.

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Newborn screening for cystic fibrosis: the practical implications.

Publication Date
Jan 01, 2004
  • Medicine


American Lung Association State of Lung Disease in Diverse Communities 2010 41 Cystic Fibrosis (CF) Cystic Fibrosis (CF) is a lifelong, hereditary disease that causes thick, sticky mucus to form in the lungs, pancreas, and other organs . In the lungs, this mucus blocks the airways, causing lung damage, making it hard to breathe, and leading to serious lung infections . In the pancreas, it clogs the pathways leading to the digestive system, interfering with proper digestion .1 In 90 percent of cystic fibrosis cases, the airways are affected .2 Who Has It CF is the second most common life-shortening, inherited disorder occurring in childhood in the United States, after sickle cell anemia.3 Approximately 30,000 Americans have CF, and there are an estimated 1,000 new cases diagnosed each year.4 The overall birth prevalence of CF in the United States is 1 in 3,700 (Figure 1).5 It occurs equally in male and female babies and affects nearly every race.6 However, cystic fibrosis occurs most commonly among Caucasians of Northern European descent; an estimated 1 in 2,500 Caucasian births are affected.7 More than 10 million Americans are unknowing, symptomless carriers of the defective cystic fibrosis gene. In order to develop CF, an individual must inherit a defective gene from each parent. Each time two carriers of the defective gene conceive, there is a 25 percent chance that the child will have CF. There is a 50 percent chance that the child will be a carrier of the gene, and 25 percent chance that the child will not have the gene at all. The odds remain the same with each child. The severity and symptoms of the disease vary considerably due to different mutations of the gene.8 Deaths Between 1999 and 2006, 3,708 people in the U.S. died from cystic fibrosis. Most of these deaths were among Caucasians (3,355). The age-adjusted death rate among Caucasians (0.22 per 100,000) is much higher than that among other racial and ethnic groups (Figure 2).9 Surviva

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