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May 2011 Moms
Hels
member
XP: Just found out I'm a CF carrier. T&P please.
Hels
member
Before DH and I got married, I got a bunch of genetic testing done (we're both Jewish). I tested negative for all the biggies - Canavan, Cystic Fibrosis, and Tay Sachs, etc. Fast forward to 5 years later... now I'm finally pregnant. My brother gets me one of those genetic tests through 23&Me - just for fun. I just looked at the results..and GUESS FREAKIN' WHAT... I am now magically a carrier for Cystic Fibrosis. I'm freaking out, of course. I have an OB appointment tomorrow so I'll discuss all of this with him. I guess next steps are to get DH tested.
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Re: XP: Just found out I'm a CF carrier. T&P please.
I was tested for CF at the beginning of this pregnancy and came back a carrier as well. DH was tested and he is not a carrier, so we are in the clear. There are like 13 or more different genetic mutations of CF, both you AND your DH have to have the SAME mutation in order for your child to have CF.
We have been in your shoes and it is scary until you know for sure. Try to keep your head up, realize how slim the chances are, and keep us updated.
Married 6/6/09
DS 5/11/11
DD 9/13/13
How come your doctor didn't run this test at the beginning of your pregnancy when all your bloodwork would have been done? From my understanding it's a mandatory blood test done with your initial blood work when the doctor finds out you are pregnant.
Hopefully it turns out okay. I would discuss with your doctor why he didn't run this lab inititially.
It is not mandatory here, it an option at 8-10 weeks.
Married 6/6/09
DS 5/11/11
DD 9/13/13
Wow that shocks me! From everyone I know in our area it is mandatory and done with your first set of labs upon confirmation of pregnancy! It amazes me how different parts of the country have different things that are mandatory. You would think that having a baby would call for the same tests across the board and the states.
what pp have said...even if your dh is a carrier, your chances are still really low. and even then, there is a whole span of degrees for CF. my brother has it, but he has a very mild case and most days I forget because he leads such a normal life. even still, thoughts and prayers to you and your family
I think the official chance for two carriers is 1/4. My thoughts are definately with you both. My mom's parents were both carriers and 4/5 children had CF- my mother was the only one who didn't. CF treatment is coming a long way, and people live much longer lives than they did years ago. Good luck with his test results and keep us posted.
This is completely false.
There are over 1800 different CF mutations (https://genet.sickkids.on.ca/StatisticsPage.html). The most common screens (what you had at your initial prenatal) test for <100 of these. I think the standard one tests for 23. Most mutations are rare, so this screening works fairly well.
ANY combination of two CF genes (one from each parent) will result in CF. Severity is not 100% predicted by mutations alone. My DH has DF508 and 1154insTC - two different mutations - classic CF presentation, DXed as an infant. The second mutation is rare, not on any panel. My mutation is also not on a panel (I'm a carrier). Both of us had to have genetic testing. We did it through Ambry (see below).
OP - I would recommend that you and your DH have the Ambry CFAmplified testing done. https://ambrygenetics.com/Cystic-Fibrosis.html and https://ambrygen.com/clinical_diagnostic_and_carrier_testing/PDFforms/1.2.1.7%20Cystic%20Fibrosis%20test.pdf for more information on panel testing and mutation rates. Your chances are good that your DH will not be a carrier. If he is, you have a 25% chance of having a child with CF. Best of luck. You can PM me for more information or with questions.
Considering I live with someone with CF - I think she's justified in having a freak out. It's not sunshine and freakin' roses over here in CF-land.
I'm pretty sure I am educated. I'm not being snarky, but if there's something I'm obviously missing I'd love to hear it. If I'm being a complete dumb sh!t and freaking out of no reason, trust me, I'll take that and all the flaming that comes my way.
As an update to the other responses, the reason I'm freaking out even more is because my BIL (husband's brother) is a known carrier for CF. That means that one of DHs parents is definitely a carrier. So that's a 50% chance that DH is a carrier. (once again... feel free to correct my math).