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©2013 UpToDate ® Print Email Risk of cystic fibrosis based upon mutation analysis for carrier status Proportion of cystic fibrosis cases in the population caused by detectable mutations Carrier risk for person with negative test 0 1 in 25.5 70 1 in 82.7 75 1 in 99 80 1 in 126 85 1 in 165 90 1 in 246 95 1 in 491 Carrier risk by detectable mutations in screening panel. The degree to which the risk of disease is reduced is determined by the number of mutations screened. For example, if a Caucasian patient of Northern European descent does not carry the ΔF508 mutation, her risk of being a CF carrier is reduced from about 1 in 25 (the a priori risk based solely on ethnic origin) to 1 in 99, since ΔF508 accounts for 75 percent of all CF cases. Reproduced with permission from: Elias, S, Annas, GJ, Simpson, JL. Carrier screening for cystic fibrosis: Implications for obstetric and gynecologic practice. Am J Obstet Gynecol 1991; 164:1077. Copyright © 1991 Mosby, Inc.