Genetic Counseling, Reproductive Behavior and Future Reproductive Intentions of People with Neurofibromatosis Type 1 (NF1)

Abstract

Neurofibromatosis type 1(NF1) is a complex and variable inherited disorder. The complexity and variability present particular difficulty for genetic counseling. Thirty-three people with NF1 of reproductive age were interviewed about their experience of genetic counseling, their past reproductive behavior and future intentions. One third reported having had no genetic counseling or not having it until after their first child. In part, this may be due to delay in diagnosis but also indicates poor access to genetic services. Only three people had ever been offered prenatal genetic testing and only one had accepted. Although testing is still technically difficult, the greatest deterrent to uptake of prenatal testing for NF1 is the variability of the disorder. However, six of the 17 people planning future pregnancies would want a test with a view to termination if necessary. Others would welcome testing in order to be prepared but not to terminate. We discuss some of the factors which influence reproductive decision making for people with NF1 and some of the difficulties in genetic counseling in such a variable and complex disorder.