We're cystic fibrosis carriers, now what?

This pregnancy has been different from my first.  I feel like every time I go into the Doctors office something has changed from being pregnant four years ago.  For example, four years ago I was offered a triple screen.  Now, I am offered a quad screen and down syndrome testing in two parts (which didn't work out so well seeing as I transferred offices).  When I went for my 20 week ultrasound I had a vaginal ultrasound with it.  Okay, I don't know that this was normal.  But, at the time, I thought maybe this was just a new "standard" since everything else I'd done so far had changed.

My first ob office (transfer remember?) told me that cystic fibrosis carrier testing had become pretty much standard in the last several years, particularly for Caucasian people.  Not even mentioned in my first pregnancy, by the way.  So I had it done.  Then, because I was found a "carrier" we had my husband tested.  Who also came back a "carrier" so they referred me to a perinatologist.  All of this supposedly covered by insurance.  I called my insurance in advance about BOTH tests, and the big bill I just got for my husbands test would BEG TO DIFFER that "yes, we cover that."

These two positive tests left me in a tailspin.  When I was sitting in the office, I guess I just didn't have enough wits to spout out good questions.  Things like, 
"What does this even mean?"  
"What mutation do we carry?" (there are multiple)
"Do we have to carry the same mutation for a child to get CF?"
"Why am I seeing a perinatologist?  Can they actually tell me anything more?"
"Does it make a difference at birth?"

I already knew that I was not going to have further testing (aka: amniocentesis or other more invasive tests) and that I was not going to terminate the pregnancy.   I went to the perinatologist anyway.  I suppose it was worth the trip, as I got a good description of what cystic fibrosis was.  I learned that both parents have to carry the same mutation to have the 1 in 4 chance of having a child with cystic fibrosis.  And no there isn't much else the ultrasound could show, or a difference at birth.  They did not, however, know if we had the same mutation, because of missing one set of records (someone in records got a big fat fail with me that day). 


In hind sight I don't know that I would have cystic fibrosis carrier testing again.  If you are facing similar testing I would consider a few things.


Does it make a difference to you if your child has a genetic issue?

Would you have further testing?  ( The answer may change for you depending on the condition you are facing.  I have an "undecided" stance on having an amnio to test for Trisomy 18.  But a "no" on things like Downs Syndrome and Cystic Fibrosis. See also, next question.) Do you know what the risks of further testing are?

Do you want to be "prepared" for a condition or face things if they show up?

Is there anything different you can do during pregnancy to help the issue (besides all that general healthy stuff you are already trying to do)? (in the case of genetic problems, the answer is probably always no.  After all, the issues are genetic)

Those things said, all you can really do is be educated about the things you are being offered at the doctors office.  Try not to get tongue tied like me and DO ask your questions.  Or call later and ask questions. And don't feel like you HAVE to do anything.   


So, now what?  We sit back and enjoy expecting our baby boy.  Hopefully he will be a healthy horse like our daughter.  If not, we'll do the best job we can to take care of him.  Like we already would have done.