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3rd Trimester
turbosgirl
member
news from dr. - need your thoughts
turbosgirl
member
thought maybe you ladies could shine some light on this for me...
so i just got a call from my dr office. i had blood work done a few weeks ago, and they called me to let me know that i am carrying a one of the mutuations in one of my genes for cystic fibrosis. they told me that the only way i could pass it on to my child is if my husband is also carrying the exact same mutation in the exact same gene. so he is going in this week to have his blood work done (it takes a few weeks to come back). what is the chance that he will have the exact same mutation? anyone have any experience with this!?!!? im kind of freaking out.
This discussion has been closed.
Re: news from dr. - need your thoughts
I don't know the stats but I just wanted to say DO NOT GOOGLE. It will make you crazy. I had a DS scare and google is not always your friend.
GL.
I'm pretty sure one of the girls over on High Risk has a CF gene, so you might want to post over there.
Don't stress unless you have to!
From my nurse mother:
Unless your DH has someone in his family with CF, it would be very rare for him to have the same gene mutation that you do.
Hope that helps some, thoughts and prayers your way!
I agree with this! Google will scare the crap out of you because you will always see the worst-case scenario. I don't know your odds, but I will keep you in my thoughts and prayers.
I looked it up, and it looks like there's a 4% chance that DH is a carrier for the mutation. (This is based on the idea that he's caucasian or Jewish. Hispanics and African Americans have an even lower incidence rate.) Even if he is, there's only a 25% chance that you child would end up w/ CF. Do the math, and that means that in all there's a .04% chance that you'll have a baby with cystic fibrosis. (Meaning 1 in every 2500 births).
That said... if you DO have a baby w/ CF, it is very treatable, and they'll do testing at a very young age to see if s/he does in fact have it, which will allow them to start treatment earlier, which is awesome.
I do REALLY hope that he's not a carrier, but since you are, it will be a really good idea for you to pass on this information to your kids when they get older. Even if DH isn't a carrier, they have a 50% chance of being a carrier themselves, and they may want to have their spouses checked if they are a carrier. If DH IS a carrier, there's a 75% chance that they'll be carriers. It may or may not make a huge difference to them, but it would avoid shocking and unsettling situations like this in the future!
Hope everything works out!! Try to stay calm... worrying about it isn't going to make it go away or change the outcome, but chances are, you really DON'T have anything to worry about!
I KNOW that's easier said than done!! Try to stay busy!!
First there are tons of mutations and each lab test a slightly different group/ number.
Quest Diagnostics for example does the 23 mutation test and that test only looks at harmfull mutations. Gynzeme test for 97 mutations but ACOG doesn't recommend this test because many are benign mutations. So most important is knowing which mutation you test positive for.
Second, it's always better to be aware of what DH's status is regarding CF because this is gonna be for EVERY pregnancy. Most people we've tested have come back negative partner status.
If worse case senerio does happen and both of you are positive carriers I would really consider an Amnio, regardless of your opinions on termination. I strongly would recommend having already met with and discuss the care and treatment options for your child prior to birth.
Momma Maven In The Making!
I have to reply to this since there is a TON of misinformation on this thread.
1) There are 1500+ mutations for CF. You do not have to have two of the same mutation to have CF. It is actually most common that CF patients have two DIFFERENT mutations. Case in point, my DH has DF508 and 1154insTC - classic CF, DXed as an infant.
2) The panel tests do not just test for the "disease causing" mutations. They test for the most common mutations, although after DF508, none are particularly common. My DH's second mutation is not on any panel - only the full genetic screen caught it.
3) 1 in 25 caucasians are carriers. There are additional stats on the Ambry Genetics website. Two carriers have a 25% chance of a CF child, 50% chance of a carrier child.
4) A negative panel does NOT mean you are not a carrier. I'm a carrier - all the panels would have cleared me as mutation free. I had to have a full genetic screen. I recommend a full screen whenever one partner turns up a carrier on a panel. Again, I refer you to the Ambry Genetics website, they have good stats on what the risk is after panel testing. It really depends on your background.
5) "Runs in families" - I have no family history. I'm a carrier. My DH has no family history on either side - and he (and his brother) has CF. It's autosomal recessive - you can carry the gene for generations in a family with no expression of the gene. However - looking further back in a history, you might find babies who died young of failure to thrive or lung issues - but no diagnosis.
I can go on forever - PM me if you want more info.