Genetic Testing

GermanGirl2007

Hey ladies - first of all, to the IVF'ers, I am SO sorry that I didn't post the IVF check in today! I am traveling for work and won't be able to post it until I get back on Wednesday. Hope you all don't mind waiting a couple extra days.

 

In other news.....I got a call from my Dr. today re: my genetic testing results. I was shocked to find out that I am a carrier for Cystic Fibrosis.  I didn't even talk to the Dr. because I was on a flight OOT for work, so I just listened to the message. He said that the lab that completed the genetic testing noted a 1 in 110 "reproductive risk." I don't know what this means. I know that we have to get DH tested and I shouldn't stress before that happens, but I can't help but worry a bit.   I have heard that there is only like a 1 in 628 chance of both partners being carriers, so those are pretty low odds, but still, I am in shock. Is anyone else here a carrier?

katib77

I'm so sorry GG.  I can't remember if it was someone here or on TTCAL that learned that but then had her husband tested and he was in the clear.  I hope that your husband isn't a carrier and you don't have to worry.  But I agree that those odds seem really low.  

As for the IVF check in, since it's so new - I couldn't remember what day it was.  Have a safe work trip and we'll all check in when you get back. 

scbedi

I am a carrier too. I was also in shock. I had no clue!!! Luckily DH isn't, but that was a long wait to find out! I ended up letting my brother know so that he could get tested or his wife get tested. I hope your DH isn't a carrier either!! GL! T&P with you!!

GermanGirl2007

Say1009:

I am a carrier too. I was also in shock. I had no clue!!! Luckily DH isn't, but that was a long wait to find out! I ended up letting my brother know so that he could get tested or his wife get tested. I hope your DH isn't a carrier either!! GL! T&P with you!!

Yes! I remember this now, but for some reason I though it was Fragile X - I don't know where I got that from. Hopefully DH can get in soon to get tested. I can imagine the wait to find out will feel like forever. I also let my sisters know - both of my biological sisters are currently pregnant. Hopefully this is really nothing to worry about. The only thing that is stressing me out is that I have a feeling that my IVF might be delayed until his results are in. I guess I'll know more once I actually talk with my Dr's.  Thanks for the T & P's, ladies! 

twohunts

I hope you get some answers soon and it doesn't delay your IVF treatment. Keep us posted!

Twinkie0612

I am a carrier of CF and was shocked as well.  DH was tested and thankfully he is not a carrier.  For a Caucasian with no family history the odds of being a carrier is about 3% (other ethnicities have even lower odds).  So there is a good chance that your DH is not a carrier, I found these stats helpful during the wait for his test to come back.

The risk only comes up if both parents are carriers.   Because CF is a recessive mutation, a child must receive the CF gene from both parents to have the disease.  If both parents are carriers, they have a 25% chance of having a child with CF (they have a 50% chance of having a child that is a carrier and a 25% chance of having a non carrier child).  If only one parent is a carrier, they cannot have a child with CF, but have a 50% chance of having a child that is a carrier.  This is important to know because when your children grow up they will probably want to be tested to see if they are a carrier.

let me know if you ave any more questions.  I did way too much research while waiting for DH's results to come back.  

GermanGirl2007

Twinkie0612:

I am a carrier of CF and was shocked as well.  DH was tested and thankfully he is not a carrier.  For a Caucasian with no family history the odds of being a carrier is about 3% (other ethnicities have even lower odds).  So there is a good chance that your DH is not a carrier, I found these stats helpful during the wait for his test to come back.

The risk only comes up if both parents are carriers.   Because CF is a recessive mutation, a child must receive the CF gene from both parents to have the disease.  If both parents are carriers, they have a 25% chance of having a child with CF (they have a 50% chance of having a child that is a carrier and a 25% chance of having a non carrier child).  If only one parent is a carrier, they cannot have a child with CF, but have a 50% chance of having a child that is a carrier.  This is important to know because when your children grow up they will probably want to be tested to see if they are a carrier.

let me know if you ave any more questions.  I did way too much research while waiting for DH's results to come back.  

This is hugely helpful. Thanks so much. I will definitely let you know if I have any questions - I have a feeling I will as I wait for his results to come back.

Thanks again everyone for the encouragement.  

BettyBoop86

I went through the same thing. When I had surgery in 2010 I am a carrier for CF. So DH got tests and I got retested both of us with the Council test and the company guarantees you will not pay more than 99 oop per person. He came back negative for CF. so our risk for CF is actually now 1 in 3,600. The normal population with both parents negative was 1 in 3,100 according to the Council test people. That test is totally worth it!!! GL!!!

RunCC37

I'm so sorry about the shocking news. FX that your DH isn't a carrier. Hugs to you while you wait for answers