Hi All:

I recently found out that I have the HD gene mutation, I am in the reduced penetrance area with 39 repeats. I have been trying to conceive so I spoke with my doctor about the testing available should I be able to conceive without IVF. I was a little confused about part of what he told me, so I wanted to see if anyone here has dealt with this. From what he was saying, if I get pregnant and choose to have the fetus tested at 11 or so weeks and the fetus tests positive, are you required to terminate the pregnancy? I might have totally misunderstood what he was telling me. At first I thought that he was saying you HAVE to terminate if it tested positive but I asked him about it again and he made it sound more like you're expected to terminate the pregnancy if it is positive, because you are not giving the baby the choice to get tested on their own. I just wanted to see if any of you have been through this and how your experience was. I know that this is a touchy subject and everyone is entitled to their own choice. It is also heartbreaking thinking about having to make that decision, so I really appreciate all of your info. Opening up about such a hard subject.

No one can require you to terminate a pregnancy. However, if you ask for prenatal testing and say that you will not terminate the pregnancy if the fetus is positive or even that you are not sure what you would do, it is almost impossible to get a doctor and lab to test you. The reason for this is just what your doctor told you. The protocols call for each at risk person to make the decision for themselves as to whether they want to know their gene status. Continuing with a pregnancy after the fetus tests positive is taking that choice away from your child.

However, if a woman asks for the test for the purpose of aborting a fetus that has the HD gene and later changes her mind, no one can force her to abort.

The advantage of IVF is that you can choose to implant a fetus without the HD gene.

Hi there,
If you do a search of my username for some of my previous posts, you can find more information on prenatal testing.
When we found out our baby had inherited an expanded CAG of 40> from my husband's level of 38, we decided to terminate. However it wasn't something I had to do.
We just felt that the implications of knowing our child's gene status was a huge disadvantage for them and ultimately very unfair. We were also advised that we would need to raise the child without them ever being aware that we knew their gene status.
As awful as the decision to terminate was, that was the decision we'd made from the outset. It was just so much simpler when you don't have that baby growing inside you.
Happy to answer any questions you have about it.