A few weeks ago my doctor offered to set Ethan up to get genetic testing done to see if he was a carrier of Cystic Fibrosis. Because I have CF, she will automatically be carrier. I knew that. But it all depended on Ethan. I wouldn't have been so worried about Ethan being a carrier, but there was the fact that his sister (who is also pregnant right now) was a carrier. I got to thinking and I began to worry that Ethan could be a carrier too so I thought hey, there's nothing wrong with knowing. So he did the genetic testing and then we played the waiting game for about a week and a half.
I was on the phone with my sister when Dr. Brody called. I didn't think anything of him calling because I have an appointment coming up and thought his office was just calling to confirm it. He let me know that Ethan's test came back positive and that he is a carrier. I think I may have went into shock.
Our little baby girl will either have CF.........or she won't.
Those are the only two ways to slice it, now. 50/50.
They explained that I need to make an appointment with a geneticist as soon as I can so we have a consult on January 6th where they will talk to us about everything and all of our options will be discussed. One of those options will most likely be amniocentesis. I told myself from the beginning that the only way I would get an amnio is if Ethan turned out to be a carrier.
Amniocentesis is a prenatal test that allows your doctor to gather information about your baby's health from a sample of your amniotic fluid. This is the fluid that surrounds your baby in the uterus. They take a sample of the amniotic fluid by inserting a needle into your stomach. This raises a few eyebrows because it is so invasive and creates a chance of there being a miscarriage.
Baby Center said this: The risk of miscarriage due to amniocentesis is low. Because a certain percentage of women will end up miscarrying in the second trimester anyway, there's no way of knowing for sure whether a miscarriage following an amnio was actually caused by the procedure.