Carrier: looking for information

Chryssa

New member
Hi,<br><br>I don't know if I belong on this board, but I have a few questions. A few days ago, my doctor told me that I am a carrier for CF, my bloodwork apparently showed the Delta F508 mutation.<br><br>My husband an I have a 1 year old son. In Holland, where we come from, they don't test for CF during pregnancy. Therefore, we had no idea I am a carrier, as we were still in Holland during my first trimester of pregnancy. Our son was born in California, where we currently live, and had his newborn screening test here. This came back clear, the doctor pulled his records during the phonecall and said that his IRT level was 12, which I think is very low. However, according to the genetics counselor, the screening is not 100% accurate, so she could not promise us that our son does not have CF. My husband is getting himself tested next week, to see if he's a carrier as well.<br><br>I am quite shocked by the news that I am a carrier and am worried about my son. Is there a chance that he does have CF? Also, my husband and I are currently trying to have another baby, but this has us doubting that. What if my husband is a carrier as well?<br><br>And if his test comes back negative, can we be sure they tested for all the mutations? Because if they don't, my husband could still be a carrier and we could pass on both of our defective genes.<br><br>Thank you for taking the time to read my post.<br><br>
 

Chryssa

New member
Hi,<br><br>I don't know if I belong on this board, but I have a few questions. A few days ago, my doctor told me that I am a carrier for CF, my bloodwork apparently showed the Delta F508 mutation.<br><br>My husband an I have a 1 year old son. In Holland, where we come from, they don't test for CF during pregnancy. Therefore, we had no idea I am a carrier, as we were still in Holland during my first trimester of pregnancy. Our son was born in California, where we currently live, and had his newborn screening test here. This came back clear, the doctor pulled his records during the phonecall and said that his IRT level was 12, which I think is very low. However, according to the genetics counselor, the screening is not 100% accurate, so she could not promise us that our son does not have CF. My husband is getting himself tested next week, to see if he's a carrier as well.<br><br>I am quite shocked by the news that I am a carrier and am worried about my son. Is there a chance that he does have CF? Also, my husband and I are currently trying to have another baby, but this has us doubting that. What if my husband is a carrier as well?<br><br>And if his test comes back negative, can we be sure they tested for all the mutations? Because if they don't, my husband could still be a carrier and we could pass on both of our defective genes.<br><br>Thank you for taking the time to read my post.<br><br>
 

Chryssa

New member
Hi,<br><br>I don't know if I belong on this board, but I have a few questions. A few days ago, my doctor told me that I am a carrier for CF, my bloodwork apparently showed the Delta F508 mutation.<br><br>My husband an I have a 1 year old son. In Holland, where we come from, they don't test for CF during pregnancy. Therefore, we had no idea I am a carrier, as we were still in Holland during my first trimester of pregnancy. Our son was born in California, where we currently live, and had his newborn screening test here. This came back clear, the doctor pulled his records during the phonecall and said that his IRT level was 12, which I think is very low. However, according to the genetics counselor, the screening is not 100% accurate, so she could not promise us that our son does not have CF. My husband is getting himself tested next week, to see if he's a carrier as well.<br><br>I am quite shocked by the news that I am a carrier and am worried about my son. Is there a chance that he does have CF? Also, my husband and I are currently trying to have another baby, but this has us doubting that. What if my husband is a carrier as well?<br><br>And if his test comes back negative, can we be sure they tested for all the mutations? Because if they don't, my husband could still be a carrier and we could pass on both of our defective genes.<br><br>Thank you for taking the time to read my post.<br><br>
 

just1more

New member
First, you are more than welcome here. That said, let me see what I can fill in for you:

An IRT of 12 is low, and most likely indicates your son doesn't have CF.

Testing your husband is not a bad idea; but there are a couple of levels of testing. The basic test looks for the ~100 most common mutations (yours is in that list); whereas there are around 1500 known possible mutations which are found in the larger test.

As far as your son:
If your husband IS a carrier then the odds are: 25%-CF; 50%-carrier; 25%-no mutations
IF your husband IS NOT a carrier then the odds are: 0%-CF; 50%-carrier; 50% no mutations

The same odds would apply for another child.

If you have more questions, feel free to ask.
 

just1more

New member
First, you are more than welcome here. That said, let me see what I can fill in for you:

An IRT of 12 is low, and most likely indicates your son doesn't have CF.

Testing your husband is not a bad idea; but there are a couple of levels of testing. The basic test looks for the ~100 most common mutations (yours is in that list); whereas there are around 1500 known possible mutations which are found in the larger test.

As far as your son:
If your husband IS a carrier then the odds are: 25%-CF; 50%-carrier; 25%-no mutations
IF your husband IS NOT a carrier then the odds are: 0%-CF; 50%-carrier; 50% no mutations

The same odds would apply for another child.

If you have more questions, feel free to ask.
 

just1more

New member
First, you are more than welcome here. That said, let me see what I can fill in for you:
<br />
<br />An IRT of 12 is low, and most likely indicates your son doesn't have CF.
<br />
<br />Testing your husband is not a bad idea; but there are a couple of levels of testing. The basic test looks for the ~100 most common mutations (yours is in that list); whereas there are around 1500 known possible mutations which are found in the larger test.
<br />
<br />As far as your son:
<br />If your husband IS a carrier then the odds are: 25%-CF; 50%-carrier; 25%-no mutations
<br />IF your husband IS NOT a carrier then the odds are: 0%-CF; 50%-carrier; 50% no mutations
<br />
<br />The same odds would apply for another child.
<br />
<br />If you have more questions, feel free to ask.
 

Chryssa

New member
Thanks for your answer. What I don't really get about these IRT levels: does it have to be 0 to completely rule out CF, or is there a range that is considered 'normal' for people/children without CF?
 

Chryssa

New member
Thanks for your answer. What I don't really get about these IRT levels: does it have to be 0 to completely rule out CF, or is there a range that is considered 'normal' for people/children without CF?
 

Chryssa

New member
Thanks for your answer. What I don't really get about these IRT levels: does it have to be 0 to completely rule out CF, or is there a range that is considered 'normal' for people/children without CF?
 
K

kots66

Guest
From what I've read, if IRT is below 60-70, it is considered normal. If it's higher than that,
the doctors might perform a second IRT test at three weeks old, or perform a DNA or a sweat test.
 
K

kots66

Guest
From what I've read, if IRT is below 60-70, it is considered normal. If it's higher than that,
the doctors might perform a second IRT test at three weeks old, or perform a DNA or a sweat test.
 
K

kots66

Guest
From what I've read, if IRT is below 60-70, it is considered normal. If it's higher than that,
<br />the doctors might perform a second IRT test at three weeks old, or perform a DNA or a sweat test.
<br />
<br />
 
K

kots66

Guest
To complete my answer above: It doesn't seem likely that your son has CF. But, if you are thinking of having a second child, and since you already know that you are a carrier, it would be wise to get your husband tested
for as many mutations as possible.
 
K

kots66

Guest
To complete my answer above: It doesn't seem likely that your son has CF. But, if you are thinking of having a second child, and since you already know that you are a carrier, it would be wise to get your husband tested
for as many mutations as possible.
 
K

kots66

Guest
<br />To complete my answer above: It doesn't seem likely that your son has CF. But, if you are thinking of having a second child, and since you already know that you are a carrier, it would be wise to get your husband tested
<br />for as many mutations as possible.
 
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