IRT levels

zackarysdad · Oct 30, 2008

Thanks so much for posting this information. Our five week old son just screened positive. According to the doctor he had "elevated IRT" and no mutations but needs a sweat test. He has no symptoms at all and is really thriving. Also his mother had a prenatal screening test which came back negative.

From what the doctor told us initially, I assumed that his IRT must have been highly elevated, which was worrisome. After seeing this post I called him and found out that his IRT level was 98.2, which according to this chart is a near 0% chance of CF. I've found research showing that <100 is considered normal. And also that in a lot of states and testing schemes, 98 and no mutations would be considered a negative result. We live in NYS which I know has a high false positive rate...

Of course I've found out enough in the last few days to know that nothing is certain, and there is still a chance he might have it... And I'll be anxious until we get the results of the sweat test. But I just wanted to let you know that this piece of information really helped me and my wife feel a lot less worried for now.

zackarysdad · Oct 30, 2008

Thanks so much for posting this information. Our five week old son just screened positive. According to the doctor he had "elevated IRT" and no mutations but needs a sweat test. He has no symptoms at all and is really thriving. Also his mother had a prenatal screening test which came back negative.

From what the doctor told us initially, I assumed that his IRT must have been highly elevated, which was worrisome. After seeing this post I called him and found out that his IRT level was 98.2, which according to this chart is a near 0% chance of CF. I've found research showing that <100 is considered normal. And also that in a lot of states and testing schemes, 98 and no mutations would be considered a negative result. We live in NYS which I know has a high false positive rate...

Of course I've found out enough in the last few days to know that nothing is certain, and there is still a chance he might have it... And I'll be anxious until we get the results of the sweat test. But I just wanted to let you know that this piece of information really helped me and my wife feel a lot less worried for now.

zackarysdad · Oct 30, 2008

Thanks so much for posting this information. Our five week old son just screened positive. According to the doctor he had "elevated IRT" and no mutations but needs a sweat test. He has no symptoms at all and is really thriving. Also his mother had a prenatal screening test which came back negative.

From what the doctor told us initially, I assumed that his IRT must have been highly elevated, which was worrisome. After seeing this post I called him and found out that his IRT level was 98.2, which according to this chart is a near 0% chance of CF. I've found research showing that <100 is considered normal. And also that in a lot of states and testing schemes, 98 and no mutations would be considered a negative result. We live in NYS which I know has a high false positive rate...

Of course I've found out enough in the last few days to know that nothing is certain, and there is still a chance he might have it... And I'll be anxious until we get the results of the sweat test. But I just wanted to let you know that this piece of information really helped me and my wife feel a lot less worried for now.

zackarysdad · Oct 30, 2008

Thanks so much for posting this information. Our five week old son just screened positive. According to the doctor he had "elevated IRT" and no mutations but needs a sweat test. He has no symptoms at all and is really thriving. Also his mother had a prenatal screening test which came back negative.

From what the doctor told us initially, I assumed that his IRT must have been highly elevated, which was worrisome. After seeing this post I called him and found out that his IRT level was 98.2, which according to this chart is a near 0% chance of CF. I've found research showing that <100 is considered normal. And also that in a lot of states and testing schemes, 98 and no mutations would be considered a negative result. We live in NYS which I know has a high false positive rate...

Of course I've found out enough in the last few days to know that nothing is certain, and there is still a chance he might have it... And I'll be anxious until we get the results of the sweat test. But I just wanted to let you know that this piece of information really helped me and my wife feel a lot less worried for now.

zackarysdad · Oct 30, 2008

Thanks so much for posting this information. Our five week old son just screened positive. According to the doctor he had "elevated IRT" and no mutations but needs a sweat test. He has no symptoms at all and is really thriving. Also his mother had a prenatal screening test which came back negative.
 
 From what the doctor told us initially, I assumed that his IRT must have been highly elevated, which was worrisome. After seeing this post I called him and found out that his IRT level was 98.2, which according to this chart is a near 0% chance of CF. I've found research showing that <100 is considered normal. And also that in a lot of states and testing schemes, 98 and no mutations would be considered a negative result. We live in NYS which I know has a high false positive rate...
 
 Of course I've found out enough in the last few days to know that nothing is certain, and there is still a chance he might have it... And I'll be anxious until we get the results of the sweat test. But I just wanted to let you know that this piece of information really helped me and my wife feel a lot less worried for now.

sdavis227 · Nov 14, 2008

I just wanted to add in here our son's IRT level. It was 88.

He has DF508 and DI507 - even though the DI507 is less common, they both are in the same mutation class.

Just wanted to add our info here, obviously children with levels almost 100 less than 180 can have CF.

Also found this:

"Because IRT concentration is frequently high immediately after birth, specificity is improved if the test is performed after the first day of life. A specimen collected between 24 and 48 hours of life is optim al. If the IRT is elevated in the initial screen, a repeat screen should be collected after seven days of life and before six weeks of life to determine persistent elevations of IRT. Babies that are low birth-weight, premature and sick may require a third or fourth specimen to determine persistently elevated IRT levels."

I'm hoping that the blood draws are all happening after the 24 hours, because if not, this seems that there could be many false positives.

And this <img src="i/expressions/face-icon-small-wink.gif" border="0">

"Babies with meconium ileus have an increased likelihood of having CF, but may not have elevated IRT levels in the newborn period "

DS did not have meconium ileus (was not dx with), but did have a small blockage.

Ok, this is like my 4th edit:

Found this, and the only thing that I can think of, is that the trypsin is witheld in the blockage, this is why the IRT numbers can be so low with MI?

"One consequence of inheriting the autosomal recessive disease cystic fibrosis is a deficiency of trypsin and other digestive enzymes from the pancreas. This leads to the disorder termed meconium ileus. This disorder involves intestinal obstruction (ileus) due to overly thick meconium which is normally broken down by trypsins and other proteases, then passed in feces."

I'm probably reading more into this than I need to, I'm just a person who likes to understand things I guess. <img src="i/expressions/face-icon-small-smile.gif" border="0">

sdavis227 · Nov 14, 2008

I just wanted to add in here our son's IRT level. It was 88.

He has DF508 and DI507 - even though the DI507 is less common, they both are in the same mutation class.

Just wanted to add our info here, obviously children with levels almost 100 less than 180 can have CF.

Also found this:

"Because IRT concentration is frequently high immediately after birth, specificity is improved if the test is performed after the first day of life. A specimen collected between 24 and 48 hours of life is optim al. If the IRT is elevated in the initial screen, a repeat screen should be collected after seven days of life and before six weeks of life to determine persistent elevations of IRT. Babies that are low birth-weight, premature and sick may require a third or fourth specimen to determine persistently elevated IRT levels."

I'm hoping that the blood draws are all happening after the 24 hours, because if not, this seems that there could be many false positives.

And this <img src="i/expressions/face-icon-small-wink.gif" border="0">

"Babies with meconium ileus have an increased likelihood of having CF, but may not have elevated IRT levels in the newborn period "

DS did not have meconium ileus (was not dx with), but did have a small blockage.

Ok, this is like my 4th edit:

Found this, and the only thing that I can think of, is that the trypsin is witheld in the blockage, this is why the IRT numbers can be so low with MI?

"One consequence of inheriting the autosomal recessive disease cystic fibrosis is a deficiency of trypsin and other digestive enzymes from the pancreas. This leads to the disorder termed meconium ileus. This disorder involves intestinal obstruction (ileus) due to overly thick meconium which is normally broken down by trypsins and other proteases, then passed in feces."

I'm probably reading more into this than I need to, I'm just a person who likes to understand things I guess. <img src="i/expressions/face-icon-small-smile.gif" border="0">

sdavis227 · Nov 14, 2008

I just wanted to add in here our son's IRT level. It was 88.

He has DF508 and DI507 - even though the DI507 is less common, they both are in the same mutation class.

Just wanted to add our info here, obviously children with levels almost 100 less than 180 can have CF.

Also found this:

"Because IRT concentration is frequently high immediately after birth, specificity is improved if the test is performed after the first day of life. A specimen collected between 24 and 48 hours of life is optim al. If the IRT is elevated in the initial screen, a repeat screen should be collected after seven days of life and before six weeks of life to determine persistent elevations of IRT. Babies that are low birth-weight, premature and sick may require a third or fourth specimen to determine persistently elevated IRT levels."

I'm hoping that the blood draws are all happening after the 24 hours, because if not, this seems that there could be many false positives.

And this <img src="i/expressions/face-icon-small-wink.gif" border="0">

"Babies with meconium ileus have an increased likelihood of having CF, but may not have elevated IRT levels in the newborn period "

DS did not have meconium ileus (was not dx with), but did have a small blockage.

Ok, this is like my 4th edit:

Found this, and the only thing that I can think of, is that the trypsin is witheld in the blockage, this is why the IRT numbers can be so low with MI?

"One consequence of inheriting the autosomal recessive disease cystic fibrosis is a deficiency of trypsin and other digestive enzymes from the pancreas. This leads to the disorder termed meconium ileus. This disorder involves intestinal obstruction (ileus) due to overly thick meconium which is normally broken down by trypsins and other proteases, then passed in feces."

I'm probably reading more into this than I need to, I'm just a person who likes to understand things I guess. <img src="i/expressions/face-icon-small-smile.gif" border="0">

sdavis227 · Nov 14, 2008

I just wanted to add in here our son's IRT level. It was 88.

He has DF508 and DI507 - even though the DI507 is less common, they both are in the same mutation class.

Just wanted to add our info here, obviously children with levels almost 100 less than 180 can have CF.

Also found this:

"Because IRT concentration is frequently high immediately after birth, specificity is improved if the test is performed after the first day of life. A specimen collected between 24 and 48 hours of life is optim al. If the IRT is elevated in the initial screen, a repeat screen should be collected after seven days of life and before six weeks of life to determine persistent elevations of IRT. Babies that are low birth-weight, premature and sick may require a third or fourth specimen to determine persistently elevated IRT levels."

I'm hoping that the blood draws are all happening after the 24 hours, because if not, this seems that there could be many false positives.

And this <img src="i/expressions/face-icon-small-wink.gif" border="0">

"Babies with meconium ileus have an increased likelihood of having CF, but may not have elevated IRT levels in the newborn period "

DS did not have meconium ileus (was not dx with), but did have a small blockage.

Ok, this is like my 4th edit:

Found this, and the only thing that I can think of, is that the trypsin is witheld in the blockage, this is why the IRT numbers can be so low with MI?

"One consequence of inheriting the autosomal recessive disease cystic fibrosis is a deficiency of trypsin and other digestive enzymes from the pancreas. This leads to the disorder termed meconium ileus. This disorder involves intestinal obstruction (ileus) due to overly thick meconium which is normally broken down by trypsins and other proteases, then passed in feces."

I'm probably reading more into this than I need to, I'm just a person who likes to understand things I guess. <img src="i/expressions/face-icon-small-smile.gif" border="0">

sdavis227 · Nov 14, 2008

I just wanted to add in here our son's IRT level. It was 88.
 
 He has DF508 and DI507 - even though the DI507 is less common, they both are in the same mutation class.
 
 
 Just wanted to add our info here, obviously children with levels almost 100 less than 180 can have CF.
 
 Also found this:
 
 "Because IRT concentration is frequently high immediately after birth, specificity is improved if the test is performed after the first day of life. A specimen collected between 24 and 48 hours of life is optim al. If the IRT is elevated in the initial screen, a repeat screen should be collected after seven days of life and before six weeks of life to determine persistent elevations of IRT. Babies that are low birth-weight, premature and sick may require a third or fourth specimen to determine persistently elevated IRT levels."
 
 
 I'm hoping that the blood draws are all happening after the 24 hours, because if not, this seems that there could be many false positives.
 
 
 
 And this <img src="i/expressions/face-icon-small-wink.gif" border="0">
 
 "Babies with meconium ileus have an increased likelihood of having CF, but may not have elevated IRT levels in the newborn period "
 
 DS did not have meconium ileus (was not dx with), but did have a small blockage.
 
 
 
 Ok, this is like my 4th edit:
 
 Found this, and the only thing that I can think of, is that the trypsin is witheld in the blockage, this is why the IRT numbers can be so low with MI?
 
 "One consequence of inheriting the autosomal recessive disease cystic fibrosis is a deficiency of trypsin and other digestive enzymes from the pancreas. This leads to the disorder termed meconium ileus. This disorder involves intestinal obstruction (ileus) due to overly thick meconium which is normally broken down by trypsins and other proteases, then passed in feces."
 
 
 I'm probably reading more into this than I need to, I'm just a person who likes to understand things I guess. <img src="i/expressions/face-icon-small-smile.gif" border="0">

SarahProcter · Dec 1, 2008

I feel very lucky that CA does the newborn screening differently than NY does. Our newborn daughter (now 7 weeks old) had a high IRT on the CA newborn screen - but they didn't call us about it, because they knew that there are a lot of false positives from high IRTs. So they did the commonplace genetic screen for CF and found dF508. Still didn't call us. So they did a full genetic sequencing (this is all for FREE, by the way, or at least, I guess this is what I pay my state taxes for!). That full genetic sequencing turned up a second mutation, a very rare one, S1159P. THEN they called our pediatrician with the results, and put us in contact with a local CF center. While I hoped and prayed that somehow it wasn't true, and she didn't have CF, I still am thankful (a) that the screening testing is so effective here, and (b) that they didn't tell us until they had all the information. I had six weeks of my beautiful baby girl without being scared out of my mind about CF.

SarahProcter · Dec 1, 2008

I feel very lucky that CA does the newborn screening differently than NY does. Our newborn daughter (now 7 weeks old) had a high IRT on the CA newborn screen - but they didn't call us about it, because they knew that there are a lot of false positives from high IRTs. So they did the commonplace genetic screen for CF and found dF508. Still didn't call us. So they did a full genetic sequencing (this is all for FREE, by the way, or at least, I guess this is what I pay my state taxes for!). That full genetic sequencing turned up a second mutation, a very rare one, S1159P. THEN they called our pediatrician with the results, and put us in contact with a local CF center. While I hoped and prayed that somehow it wasn't true, and she didn't have CF, I still am thankful (a) that the screening testing is so effective here, and (b) that they didn't tell us until they had all the information. I had six weeks of my beautiful baby girl without being scared out of my mind about CF.

SarahProcter · Dec 1, 2008

I feel very lucky that CA does the newborn screening differently than NY does. Our newborn daughter (now 7 weeks old) had a high IRT on the CA newborn screen - but they didn't call us about it, because they knew that there are a lot of false positives from high IRTs. So they did the commonplace genetic screen for CF and found dF508. Still didn't call us. So they did a full genetic sequencing (this is all for FREE, by the way, or at least, I guess this is what I pay my state taxes for!). That full genetic sequencing turned up a second mutation, a very rare one, S1159P. THEN they called our pediatrician with the results, and put us in contact with a local CF center. While I hoped and prayed that somehow it wasn't true, and she didn't have CF, I still am thankful (a) that the screening testing is so effective here, and (b) that they didn't tell us until they had all the information. I had six weeks of my beautiful baby girl without being scared out of my mind about CF.

SarahProcter · Dec 1, 2008

I feel very lucky that CA does the newborn screening differently than NY does. Our newborn daughter (now 7 weeks old) had a high IRT on the CA newborn screen - but they didn't call us about it, because they knew that there are a lot of false positives from high IRTs. So they did the commonplace genetic screen for CF and found dF508. Still didn't call us. So they did a full genetic sequencing (this is all for FREE, by the way, or at least, I guess this is what I pay my state taxes for!). That full genetic sequencing turned up a second mutation, a very rare one, S1159P. THEN they called our pediatrician with the results, and put us in contact with a local CF center. While I hoped and prayed that somehow it wasn't true, and she didn't have CF, I still am thankful (a) that the screening testing is so effective here, and (b) that they didn't tell us until they had all the information. I had six weeks of my beautiful baby girl without being scared out of my mind about CF.

SarahProcter · Dec 1, 2008

I feel very lucky that CA does the newborn screening differently than NY does. Our newborn daughter (now 7 weeks old) had a high IRT on the CA newborn screen - but they didn't call us about it, because they knew that there are a lot of false positives from high IRTs. So they did the commonplace genetic screen for CF and found dF508. Still didn't call us. So they did a full genetic sequencing (this is all for FREE, by the way, or at least, I guess this is what I pay my state taxes for!). That full genetic sequencing turned up a second mutation, a very rare one, S1159P. THEN they called our pediatrician with the results, and put us in contact with a local CF center. While I hoped and prayed that somehow it wasn't true, and she didn't have CF, I still am thankful (a) that the screening testing is so effective here, and (b) that they didn't tell us until they had all the information. I had six weeks of my beautiful baby girl without being scared out of my mind about CF.

Mom2Max · Dec 2, 2008