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| |    Screening for Cystic Fibrosis in Pregnancy by Marjorie Greenfield, M.D. reviewed and revised by Marjorie Greenfield, M.D. The American College of Obstetrics and Gynecology recommends that couples planning a pregnancy or newly pregnant be offered testing for the gene for cystic fibrosis, a serious disease that occurs in 1 in 2,500 children in the United States. Cystic fibrosis, or CF, causes lung, intestinal, and pancreatic ailments, often resulting in numerous extensive hospitalizations and a shortened life expectancy. Approximately 1 in 25 adults carries the gene for CF, and if two carriers have a baby together, there is a 1 in 4 chance that the child will inherit two copies of the gene and get the disease. Testing is offered at a pre-conception visit or in early pregnancy. But there has been a lot of controversy, and many couples are choosing not to have the testing done. Who is at risk for cystic fibrosis? While CF can occur in any ethnic group, it is most common in people of northern European or Ashkenazi Jewish heritage. It is slightly less common in Africans and much less common in people of Asian descent. Since the gene looks different in each ethnic group, the test checks for all the known genes that cause CF with greater than a standard frequency. This may miss carriers in ethnic groups where CF is uncommon, but will identify most people with the chance of passing cystic fibrosis to their offspring. Who should be screened? The current recommendation is to offer screening to all couples in at-risk ethnic groups and to inform other couples that the test is available if they want it. In some cases, the mother is tested first and then the father is tested only if the mother is a carrier. In other cases, both partners are tested simultaneously. In couples from at-risk groups, there is a 1 in 25 chance that the mother will find out that she carries the gene, followed by the anxiety of waiting for the father's results. However, if both partners are tested simultaneously, there is only a 1 in 625 (1/25 for the mom times 1/25 for the dad) chance that they will have to deal with an abnormal result. What if the test is positive? Most people want to be tested to find out that their baby is not at risk for this serious disease, and the test can bring some peace of mind. But what if it is positive, and both parents are carriers? Their offspring will have a one in four chance of having cystic fibrosis. How is this information helpful? Partly it depends on whether the genetic testing is done before pregnancy or in early pregnancy. Ideally it would be done at a pre-conception consultation, so the couple has a chance to think through all the possible scenarios.
Testing for genetic conditions has far-reaching implications. It can affect the choice to conceive, it can affect insurance rates and access, it can cause unnecessary worries, and it can damage a person's sense of self-worth. Couples who are considering genetic testing, or who have a high likelihood of a genetic disease, may benefit from consulting with a genetics counselor, as well as discussing the alternatives with their physician, loved ones, and other personal advisors. Whenever possible, it's best to do this prior to conception, as they are likely to think more clearly and dispassionately about their options before a child is actually on the way.
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