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©2013 UpToDate ® Print Email Detection of couples at risk by population-based carrier screening Cystic fibrosis mutations detectable,percent Detectionof carrier status, percent Both parents One parent Neither parent 70 49.0 42.0 9.0 75 56.3 37.5 6.2 80 64.0 32.0 4.0 85 72.3 25.5 2.2 90 81.0 18.0 1.0 95 90.3 9.5 0.2 Proportion of high risk couples (couples in which each member carries a CF gene) identified. The proportion of couples identified depends on how many CF mutations are screened. For example, if each member of the couple is tested only for ΔF508, accounting for 75 percent of CF cases, only 56 percent of couples who are truly at risk to have a child with CF will be correctly identified; if each member is tested for mutations accounting for 85 percent of the disease, only 72 percent of at-risk couples will be correctly identified. 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.