Genetic Counseling

Renee and Tim's daughter, Kelly, was diagnosed at 16 months with neurofibromatosis (NF). This is a disease that causes tumors to grow along various nerves and sometimes in the bones and under the skin. The severity of NF varies widely- from almost unnoticeable to quite disfiguring. It can also lead to a number of medical complications including curvature of the spine, enlarged head, blindness, and neurological problems.

Renee and Tim sought genetic counseling to further understand the cause of the disease and the possibility of having a second child with this disease. Dr. Rich, the geneticist, gave them a range of possibilities. The disease can amount to a few large spots on the skin or it may become more serious He explained to them that neurofibromatosis is inherited as a dominant condition, meaning only one gene needs to be altered in order to have the disease. So if one parent has NF, each pregnancy has a 50 percent chance of producing a child with the disease. Dr. Rich offered the DNA testing.

The couple was tested and Renee was found to be the carrier of the trait for NF. The tests revealed that Tim was not a carrier for NF. The DNA tests also revealed that he was not the biological father of the first child.

Before the couple has time to schedule an appointment with Dr. Rich to obtain the results of the tests, they learn that Renee is 5 weeks pregnant. They state this when they call for an appointment and the appointment clerk informs Dr. Rich of the situation.

Is you were the genetic counsellor, what should you do?

Oringinal scenario submitted by Tara Rowe, Francesca Viola, Regina Merrigan, Marie Julien and LaTricia Everett ; edited by Kate Lindemann.