HIgh IRT levels

[armela]

Ok,
so our newborn daughter has high IRT levels.
She was born premature and was small for her gestational age, however Dr. said that would not have to do anything with CF.
So her first IRT is 497 and there is no genetic mutation on her. This is the result of the IL. state test.
We are doing the second test at 14 days which is this Thursday.
I hear that is a big chance of "false Positive". Is that true ?? What have you found out from your experience and by talking to other people.
She has no issues with constipation, or breathing right now.

Please post any info you have.
We are totally freaking out right now.

 

[armela]

Ok,
so our newborn daughter has high IRT levels.
She was born premature and was small for her gestational age, however Dr. said that would not have to do anything with CF.
So her first IRT is 497 and there is no genetic mutation on her. This is the result of the IL. state test.
We are doing the second test at 14 days which is this Thursday.
I hear that is a big chance of "false Positive". Is that true ?? What have you found out from your experience and by talking to other people.
She has no issues with constipation, or breathing right now.

Please post any info you have.
We are totally freaking out right now.

 

[armela]

Ok,
<br />so our newborn daughter has high IRT levels.
<br />She was born premature and was small for her gestational age, however Dr. said that would not have to do anything with CF.
<br />So her first IRT is 497 and there is no genetic mutation on her. This is the result of the IL. state test.
<br />We are doing the second test at 14 days which is this Thursday.
<br />I hear that is a big chance of "false Positive". Is that true ?? What have you found out from your experience and by talking to other people.
<br />She has no issues with constipation, or breathing right now.
<br />
<br />Please post any info you have.
<br />We are totally freaking out right now.

 

[Ratatosk]

Have they actually done a test to see if she carries any CF genes or just the newborn screen? I know with our state they do the newborn screen, followed by a sweat test and eventually a basic CF panel, which tests for the most common cf mutations.

 

[Ratatosk]

Have they actually done a test to see if she carries any CF genes or just the newborn screen? I know with our state they do the newborn screen, followed by a sweat test and eventually a basic CF panel, which tests for the most common cf mutations.

 

[Ratatosk]

Have they actually done a test to see if she carries any CF genes or just the newborn screen? I know with our state they do the newborn screen, followed by a sweat test and eventually a basic CF panel, which tests for the most common cf mutations.

 

[armela]

Just the newborn screen, but our doc said that no CF gene mutations just hight IRT.
Not sure how the IL state test works.

Thanks for your reply.

 

[armela]

Just the newborn screen, but our doc said that no CF gene mutations just hight IRT.
Not sure how the IL state test works.

Thanks for your reply.

 

[armela]

Just the newborn screen, but our doc said that no CF gene mutations just hight IRT.
<br />Not sure how the IL state test works.
<br />
<br />Thanks for your reply.

 

[Ratatosk]

Your doctor isn't being clear. The newborn screening does NOT test for actual CF mutations. If IRT is elevated, then further testing needs to be conducted.

Most states followup with a sweat test, which can also be inaccurate. Some states will conduct a DNA mutation analysis using a panel of common CF mutations -- usually less than a hundred mutations are tested for. There are over 1400 genetic mutations for cf.

 

[Ratatosk]

Your doctor isn't being clear. The newborn screening does NOT test for actual CF mutations. If IRT is elevated, then further testing needs to be conducted.

Most states followup with a sweat test, which can also be inaccurate. Some states will conduct a DNA mutation analysis using a panel of common CF mutations -- usually less than a hundred mutations are tested for. There are over 1400 genetic mutations for cf.

 

[Ratatosk]

Your doctor isn't being clear. The newborn screening does NOT test for actual CF mutations. If IRT is elevated, then further testing needs to be conducted.
<br />
<br />Most states followup with a sweat test, which can also be inaccurate. Some states will conduct a DNA mutation analysis using a panel of common CF mutations -- usually less than a hundred mutations are tested for. There are over 1400 genetic mutations for cf.

 

[Mommafirst]

IRT levels just signify a red flag for CF. About 9 out of every 10 who test positive will NOT have CF, though they are likely to be symptomless carriers. That IRT number is well into the positive area, but I'm not sure I read anything that indicates the level of IRT makes a difference.

For your own sanity, make sure you go through all the testing. While its not likely that your newborn (congrats by the way) has CF, the newborn screen is an important way to get babies diagnosed as early as possible. Sweat testing and a comprehensive genetic testing would be ideal and the only way to rule out CF. At this age, it would be pretty normal to not see CF symptoms.

 

[Mommafirst]

IRT levels just signify a red flag for CF. About 9 out of every 10 who test positive will NOT have CF, though they are likely to be symptomless carriers. That IRT number is well into the positive area, but I'm not sure I read anything that indicates the level of IRT makes a difference.

For your own sanity, make sure you go through all the testing. While its not likely that your newborn (congrats by the way) has CF, the newborn screen is an important way to get babies diagnosed as early as possible. Sweat testing and a comprehensive genetic testing would be ideal and the only way to rule out CF. At this age, it would be pretty normal to not see CF symptoms.

 

[Mommafirst]

IRT levels just signify a red flag for CF. About 9 out of every 10 who test positive will NOT have CF, though they are likely to be symptomless carriers. That IRT number is well into the positive area, but I'm not sure I read anything that indicates the level of IRT makes a difference.
<br />
<br />For your own sanity, make sure you go through all the testing. While its not likely that your newborn (congrats by the way) has CF, the newborn screen is an important way to get babies diagnosed as early as possible. Sweat testing and a comprehensive genetic testing would be ideal and the only way to rule out CF. At this age, it would be pretty normal to not see CF symptoms.

 

[JORDYSMOM]

Here is information from your State Dept. Of Health.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.idph.state.il.us/HealthWellness/cystic_fibrosis_positivebaby.htm
">http://www.idph.state.il.us/He...osis_positivebaby.htm
</a>
stacey

 

[JORDYSMOM]

Here is information from your State Dept. Of Health.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.idph.state.il.us/HealthWellness/cystic_fibrosis_positivebaby.htm
">http://www.idph.state.il.us/He...osis_positivebaby.htm
</a>
stacey

 

[JORDYSMOM]

Here is information from your State Dept. Of Health.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.idph.state.il.us/HealthWellness/cystic_fibrosis_positivebaby.htm
">http://www.idph.state.il.us/He...osis_positivebaby.htm
</a><br />
<br />stacey

 

[Georgiatwins]

I just joined this site and saw this post, and as I'm sure you've now found out whether or not it IS CF since this was posted back in June, but thought I would add that I have identical twin girls and both newborn screens showed elevated IRT levels. The Neonatalogists kept telling us not to worry because they were often elevated in preemies (my girls were born at 33w5d due to Mono/Mono pregnancy -- same sac, twisted cords) and that it was probably a false positive. One of my daughters had to have emergency surgery at 3 days old due to a twisted bowel...they never said it was MI. The surgeon said that she may have suggested CF had it not been for the fact that the meconium that she pushed out of her intestine was in no way showing the typical signs of CF. It wasn't sticky, or gooey, it slid right out :0/ sooo, we kinda kept the thought in the back of our minds and didn't think any more about it. They ended up doing a DNA test to follow up on the elevated IRT levels and it showed that it was indeed CF. We found out the news at our first pediatricians appt. She had just received the results of the DNA test and it confirmed our worst fears. Both of my girls, being that they are identical, carry a double mutation of the Delta F508 gene. Neither my husband nor I knew that we were carriers of the defective gene. We've come to accept that our girls will have a frustrating life, but we'll be there with them every step of the way...all the way to a cure which I hope will be found within their lifetime! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Good Luck! :0

 

[Georgiatwins]

I just joined this site and saw this post, and as I'm sure you've now found out whether or not it IS CF since this was posted back in June, but thought I would add that I have identical twin girls and both newborn screens showed elevated IRT levels. The Neonatalogists kept telling us not to worry because they were often elevated in preemies (my girls were born at 33w5d due to Mono/Mono pregnancy -- same sac, twisted cords) and that it was probably a false positive. One of my daughters had to have emergency surgery at 3 days old due to a twisted bowel...they never said it was MI. The surgeon said that she may have suggested CF had it not been for the fact that the meconium that she pushed out of her intestine was in no way showing the typical signs of CF. It wasn't sticky, or gooey, it slid right out :0/ sooo, we kinda kept the thought in the back of our minds and didn't think any more about it. They ended up doing a DNA test to follow up on the elevated IRT levels and it showed that it was indeed CF. We found out the news at our first pediatricians appt. She had just received the results of the DNA test and it confirmed our worst fears. Both of my girls, being that they are identical, carry a double mutation of the Delta F508 gene. Neither my husband nor I knew that we were carriers of the defective gene. We've come to accept that our girls will have a frustrating life, but we'll be there with them every step of the way...all the way to a cure which I hope will be found within their lifetime! <img src="i/expressions/face-icon-small-smile.gif" border="0">

Good Luck! :0