Sunday, May 23, 2010

Prenatal diagnosis of pheo-causing mutations

For people carrying mutations that cause pheo, the risk of having children with the same mutation is 50%. The decision on whether to have children is ultimately a personal decision, and is largely influenced by people's own experience with the mutations. Most people with pheo-causing mutations do decide to have children and are happy with their decisions. Some of my patients choose not to have children because they feel the burden on the children and themselves would be too big.

Some patients wonder if these mutations can be diagnosed before implantation or in early pregnancy. This is a complicated ethical issue. The technology is certainly available. Since the mutations are already known in most cases, finding the mutation is present or not is straightforward. If the mutation is found, to discard a fertilized egg or terminate an early pregnancy means very differently to different people, and extreme views exist. All the genetic syndromes that have pheo as a component are usually not very bad, and people with these syndromes can have very productive life, making the prenatal diagnosis controversial.

Currently these prenatal diagnostics are not offered to most people. If you have a very negative experience with a genetic pheo syndrome and desire to have children without it, you may want to talk with your doctor to see if it is possible to do a prenatal diagnosis.

Dr. Pheo