Nancy and Bill are recently married and want to begin their family. There is an extensive history of cystic fibrosis (CF) in both families, however. In fact, both have siblings with CF. In a conversation with one of her friends, Nancy expresses anxiety about having a child with CF. She is very intent about having a "normal" child. If Nancy and Bill both carry the gene for CF, every one of the children they conceive has a one-in-four chance of inheriting both aberrant genes and getting cystic fibrosis. There is also a 50 percent chance that any child will be a carrier of the aberrant gene. As a carrier, that individual could pass the gene on to his or her offspring.
Nancy's friend encourages Nancy and Bill to go for genetic counseling and testing. Nancy seeks the advice of her OB-GYN at St. Raphael's Medical Center, who encourages Nancy and Bill to proceed. He refers them to the genetics program at the medical center. They learn that they each carry the gene for cystic fibrosis. They are devastated.
They are also very confused. Given what they were told by the geneticist, they wonder whether they should even conceive, given the risk to a future child. Or should they take the chance (and possibly burden a child with this disease)? Or should they conceive and then undergo prenatal diagnosis to determine whether or not the fetus has the mutation for cystic fibrosis. Nancy, even though Catholic, believes that if the fetus does have CF, there is the option of abortion. Bill is adamantly opposed to abortion, but Nancy thinks it is sometimes justified. Nancy again seeks the advice of her OB-GYN.
Nancy and Bill decide to take the chance. They do conceive. Nancy goes for prenatal diagnosis (amniocentesis in this case). Her fetus has inherited the CF gene from both parents and, hence, will get the disease. Nancy and Bill are now faced with a decision about what to do regarding the pregnancy. They also wonder about their options with regard to future pregnancies — sterilization, artificial insemination by donor, and in vitro fertilization using donor sperm or egg.