12 week genetic testing?

SaphrineDragon

So my doctor has asked me to think about doing genetic testing at 12 weeks since I'm a carrier for CF. What she didn't go into was exactly what would happen and if it was really necessary.

My mom told me to skip it because she always did but I know I shouldn't follow all her advice as my mom had me at 16.. 23 years ago and she didn't do everything right. I was born 10 weeks early with minimal complications but still 10 weeks early. I don't know my fathers medical history as he wasn't around at all and due to circumstances I don't have a BD to ask for any thing I should look for from thier family history.

Is this something I should consider?? Thank you!

wannabeamama2012

You should have your DH or SO tested.  I could be wrong, but I believe it takes two carriers for the baby to have the disease.  

CF is serious though so don't skip at least testing him. 

erbear

I would. You know you're a carrier for a pretty serious disease.

mrs.kapow

wannabeamama2012:

You should have your DH or SO tested.  I could be wrong, but I believe it takes two carriers for the baby to have the disease.  

CF is serious though so don't skip at least testing him. 

This. No doubt about it. It's not a disease you want to mess with totally unprepared. 

rcbuko

I would absolutely get the testing especially since you aren't able to have the BD tested to see if he is a carrier.  Cystic Fibrosis is very serious and if you know the baby has a chance of having it, you can speak to specialists before the baby is born to prepare for the treatment the baby will need.  This could mean a healthier baby than finding out at birth.

Just because you get testing doesn't mean that you are considering termination if that is what you are worried about.  We were given a higher than normal chance of our first daughter having Down Syndrome.  We met with a geneticist and educated ourselves in case she was born with the syndrome.  It actually made me feel better.  She wound up being born without Down Syndrome but I am glad we were sort of prepared in case she was.  

sparkplug06

I would for sure, if you are a carrier you need to know. That isn't something you want to mess with. 

WannaBMommy81

I would get tested just to prepare yourself.  It is just an u/s where they measure the  fold in the neck (nucheal or some sp) and a finger prick blood test (just met with nurse today and she went over a lot of this stuff.)

g8trkim

Get the test. There are some tests that people opt not to have, i.e. Downs, but with CF it's important to know ahead of time.

Aloe0l

Definitely call your doctor to get more information if feel like you are uninformed about the test.  But, I agree with PP in this instance (coming from someone who declined ALL genetic tests in my 1st pregnancy). 

One question I'd find out is does this test actually diagnose CF, or does it just tell you the odds of the baby having CF?  Keep in mind, that if it's the latter, it does not guarantee that you will have a baby with CF.  But, it could give you time to start reading up on what you'd need to do and how to prepare.

Tiff520

My DH's sister is a carrier for CF and I am not, but my OB is sending me to a genetic counsler (appointment is tomorrow) and I'm having the Sequential Screening tests done on April 2nd for DS and Trisomy 18.  I'm fairly certain that we'd both need to be a carrier for our LO to have CF, but due to the family history of the gene my OB is sending me to a counsler anyway.  I don't see the harm in going for the u/s just to be sure and it's a reason to see LO again!  Hope that helps you with your decision.

staci183

Both parents have to be a carrier CF in order to have a baby with CF.  If both parents are carriers, the odds are 1:4 that your baby will have it.  I would get your DH or SO to get tested.  its a simple blood test.  if they are not in the picture, i would do the testing, but it is up to you.  may you should talk to your ob a little more about it. it may help you decide.

SaphrineDragon

Thank you for responding

I called my doctors office today and spoke with my nurse about what the genetic testing does and what my chances of passing CF onto my baby were.

She highly recommends I do the integrated testing which is two blood draws (one in the first tri and one in the second tri) and an US in the first tri to test for DS, SB and T18. It does not test for CF. She said that if I get a positive test result from the integrated test on any of the others that they would most likely recommend a CVS or an Amnio and they can test for CF at the same time as well as do a paternal test if I chose to do so. If I opt to not do the more invasive testing done, they can test at birth.

She said that my chances of passing CF as the actual disease is very low at this point in time but I should keep in the back of my head that it is a risk and that I should prepare myself later down the road. She recommends I not do any research or reading up on it until later in my pregnancy so I don't scare myself right now since I already have a lot on my plate.    

As it stands right now I am pretty sure I want to do the integrated testing and will talk with my doctor at my visit next Tuesday about how to go about it. At that time we will also make arrangements to schedule my anatomy scan for 20 weeks with a special facility that will do a more in depth scan since I do have risks that could be present.