Case 5

Clients: Mark Loony Age: 28

Cindy Mint Age 30

The wedding is scheduled to occur three months from tomorrow. Everything is set. The wedding coordinator assures Mark and Cindy daily that the wedding and honeymoon will be fabulous. She has it all under control. So this is not an issue in the lives of the soon to be bride and groom.

The only issue to be settled is that of having children. Cindy wants to have children and so does Mark. However, they only want healthy normal children. With that thought in mind they are participating in genetic counseling sessions. At Cindy’s insistence, Mark agreed to participate in genetic counseling.

The results of the tests were as follows:

Both Mark and Sally have the autosomal recessive gene for PKU.

What are their chances of having a normal baby?

What are their chances of having an abnormal baby?

If the child is born with PKU what is the prognosis for the child and its quality of life?