newborn screening

M

Mommafirst

Guest
To answer your question, I don't know. But our doc told us that my daughter probably wouldn't have been caught on the newborn screen because the levels of IRT (??) that they test for are for some reason NOT catching babies with meconium plugs. I don't understand the science behind it, no one has tried to explain it to me, but I do think its possible (not highly likely, but possible) to not trip the newborn screen and still have CF.

I wanted to caution you a little that our doctors kept saying the same kinda thing "We don't think she has CF, but let's do this test..." etc. I put a lot of stock into it and was truly shocked when my daughters genetics revealed two CF mutations. I'm not saying this is going to happen to you, but I thought you should know that sometimes doctors may cushion their wording a bit.

I can understand the frustration of all the travel, they really should have thought this through better for you. Is your CF center associated with a Children's Hospital? I know at our CF center, if we had to travel far, we would be able to stay at the Ronald McDonald house. Children with CF and their families are pretty high on the priority listing for Ronald McDonald house. I don't know if testing is included, but its worth checking into.

Hope this helps.
 
M

Mommafirst

Guest
To answer your question, I don't know. But our doc told us that my daughter probably wouldn't have been caught on the newborn screen because the levels of IRT (??) that they test for are for some reason NOT catching babies with meconium plugs. I don't understand the science behind it, no one has tried to explain it to me, but I do think its possible (not highly likely, but possible) to not trip the newborn screen and still have CF.

I wanted to caution you a little that our doctors kept saying the same kinda thing "We don't think she has CF, but let's do this test..." etc. I put a lot of stock into it and was truly shocked when my daughters genetics revealed two CF mutations. I'm not saying this is going to happen to you, but I thought you should know that sometimes doctors may cushion their wording a bit.

I can understand the frustration of all the travel, they really should have thought this through better for you. Is your CF center associated with a Children's Hospital? I know at our CF center, if we had to travel far, we would be able to stay at the Ronald McDonald house. Children with CF and their families are pretty high on the priority listing for Ronald McDonald house. I don't know if testing is included, but its worth checking into.

Hope this helps.
 
M

Mommafirst

Guest
To answer your question, I don't know. But our doc told us that my daughter probably wouldn't have been caught on the newborn screen because the levels of IRT (??) that they test for are for some reason NOT catching babies with meconium plugs. I don't understand the science behind it, no one has tried to explain it to me, but I do think its possible (not highly likely, but possible) to not trip the newborn screen and still have CF.

I wanted to caution you a little that our doctors kept saying the same kinda thing "We don't think she has CF, but let's do this test..." etc. I put a lot of stock into it and was truly shocked when my daughters genetics revealed two CF mutations. I'm not saying this is going to happen to you, but I thought you should know that sometimes doctors may cushion their wording a bit.

I can understand the frustration of all the travel, they really should have thought this through better for you. Is your CF center associated with a Children's Hospital? I know at our CF center, if we had to travel far, we would be able to stay at the Ronald McDonald house. Children with CF and their families are pretty high on the priority listing for Ronald McDonald house. I don't know if testing is included, but its worth checking into.

Hope this helps.
 
M

Mommafirst

Guest
To answer your question, I don't know. But our doc told us that my daughter probably wouldn't have been caught on the newborn screen because the levels of IRT (??) that they test for are for some reason NOT catching babies with meconium plugs. I don't understand the science behind it, no one has tried to explain it to me, but I do think its possible (not highly likely, but possible) to not trip the newborn screen and still have CF.

I wanted to caution you a little that our doctors kept saying the same kinda thing "We don't think she has CF, but let's do this test..." etc. I put a lot of stock into it and was truly shocked when my daughters genetics revealed two CF mutations. I'm not saying this is going to happen to you, but I thought you should know that sometimes doctors may cushion their wording a bit.

I can understand the frustration of all the travel, they really should have thought this through better for you. Is your CF center associated with a Children's Hospital? I know at our CF center, if we had to travel far, we would be able to stay at the Ronald McDonald house. Children with CF and their families are pretty high on the priority listing for Ronald McDonald house. I don't know if testing is included, but its worth checking into.

Hope this helps.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
O

okok

New member
Hi

I think this is what mommafirst is talking about. If your child is born with MI (meconium ileus or meconium plug) than there is a chance of low IRT levels that will cause the newborn screen to appear normal. Mommafirst, wasn't your daughter born with MI? I thought i had seen that mentioned before. Usually though these childern are still diagnosed with CF due to the MI.

Otherwise the newborn screen is designed to be EXTRA SENSITIVE. As a result the rate of false positives is VERY high. False negatives are possible but the rate is very low and they are usually due to lab error or MI. For the CF newborn screening, the lowest false positive rates are 12 false positives for every 1 true postive. The highest rates are 25 false positives for every true positive. It can be up to 50 false positves for every true positive but this is the point where they redesign the tests because the false positive rate is too high. I know the false positives are agonizing for the familys who get them... <img src="i/expressions/face-icon-small-sad.gif" border="0">

Some states do follow up genetic testing in response to elevated IRT and usually look at only the df508 gene. Some states may look for one or two other alleles to. If they find no CF causing alleles i think they usually assume it was a false positive since the rate was so high. I imagine though that if the clinical picture was suggestive of CF they would do even more genetic testing to confirm or rule out a diagnosis. I'm sure your doctor knows whether or not your child's IRT was elevated if he told you the newborn screen was negative... If your child had normal IRT (ie not elevated) and no meconium ilieus, (and assuming there was no lab error), it is unlikely that your child had a false negative screen.

To sum up, yes it is possible your child had a false negative but not very likely. I imagine if your child's clinical picture was highly suggestive of CF the doctors would do further testing but there are some whackos out there. Although i hope they wouldn't be at an accredited CF clinic.

Good luck. Please let us know how it goes.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
K

ktsmom

New member
I'm very sorry for the aggravation and worry this must be causing you. They only recently started the newborn screening in our state so I don't have much experience there. Our daughter was diagnosed at age 3 because of GI problems. Like others, I wonder if there are other symptoms your daughter has that would further indicate CF. Gaining only 1 pound in 6 months is not a great thing.

I'm also frankly embarassed that an accredited center would treat you like this. They couldn't do the sweat test right then? They made you feel like an awful mother? They weren't sure when they could "get you in" again? This infuriates me. You should have left there with more answers, not more questions. I'm very sorry. Do re-post after the throat culture results come back (call them if you don't hear after one week) and also when the sweat test is re-done, or just to vent. Hang in there.
 
P

Patricia12569

New member
My granddaughter was diagnosed with CF yesterday. I am totally new to all of this so any help would be appreciated. As of right now we are waiting on the blood work to come back, but the Drs. did a sweat test and said that yes she has CF. She is only 3 weeks old today. Any advice??
Patricia
 
P

Patricia12569

New member
My granddaughter was diagnosed with CF yesterday. I am totally new to all of this so any help would be appreciated. As of right now we are waiting on the blood work to come back, but the Drs. did a sweat test and said that yes she has CF. She is only 3 weeks old today. Any advice??
Patricia
 
P

Patricia12569

New member
My granddaughter was diagnosed with CF yesterday. I am totally new to all of this so any help would be appreciated. As of right now we are waiting on the blood work to come back, but the Drs. did a sweat test and said that yes she has CF. She is only 3 weeks old today. Any advice??
Patricia
 
P

Patricia12569

New member
My granddaughter was diagnosed with CF yesterday. I am totally new to all of this so any help would be appreciated. As of right now we are waiting on the blood work to come back, but the Drs. did a sweat test and said that yes she has CF. She is only 3 weeks old today. Any advice??
Patricia
 
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