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Pregnant women in the U.S. may have a simple blood test to look for common mutations in her CFTR gene. If the mother has a “positive” prenatal screening, she carries one abnormal CFTR gene (a CFTR mutation). There is a 50 percent chance that this CFTR gene will be passed on to the baby. If the mother is a carrier of a CFTR mutation, the father will also be tested. If he also carries a CFTR mutation, there is a 25 percent chance that the baby will have CF. The baby could also be diagnosed before birth by amniocentesis. If the parents elect not to undergo amniocentesis, the baby should be tested for CF as a newborn. Prenatal screening does not test for all the known CFTR mutations, therefore, children can still be diagnosed with CF even if they have had normal or negative prenatal testing.
| | Inheritance pattern of normal (N) or mutated (M) CFTR genes from parents who carry an abnormal copy of the CFTR gene. |
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