How do doctors use genetics or family history when assessing a persons risk of developing cystic fibrosis?
In several important ways. First, a family history of CF should lead to genetic counseling for couples considering a pregnancy in which the inheritance of CF as well as its range of clinical manifestations is discussed. In addition, in many cases family members can be tested for CF mutations in order to determine who is a carrier, and which mutation they carry. Second, today many obstetricians offer pregnant women prenatal diagnostic testing for CF in early pregnancy, in which chorionic villus or amniotic fluid samples are obtained and tested for CF with a panel of the more common mutations. There are more than 1,500 known mutations in the CF gene, but about 25-30 of these mutations account for 90% of the mutations found in people with CF. Third, in a majority of states all babies are screened for CF at birth by analysis of blood (one or two drops from a heel stick) that is also used to screen for several other diseases such as hypothyroidism and phenylketonuria. Although several scree
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