Anyone dx d/t a positive newborn screen?

[khar59]

How is Cystic Fibrosis diagnosed?
In New Zealand the National Testing Laboratory has been screening all new-born infants for Cystic Fibrosis since mid-1981. This test was devised by Professor Bob Elliott. It measures the amount of pancreatic enzymes in a baby's blood. This is conveniently done by using the blood spot sample which is routinely taken on all babies on the fifth day of life, and which is used to check for other diseases. This measurement of pancreatic enzyme levels is not a definitive diagnosis, but 'screens' out the babies that are likely to have Cystic Fibrosis.

 

[purplemartin]

Newborn screening in the US is a two step process. 1) A few drops of blood, usually from the baby's heel are collected 24-48 hours after birth. The blood is measured for elevated immunoreactive trypsinogen (IRT), which is usually substantially elevated in newborns with CF. 2) Patients whose specimens with levels in the top 5% are then usually referred to an accredited CF Care Center. From there the child is screened by the sweet test ore by blood test.

Diagnosis with the blood test is made when two mutations of the 1000 plus mutations have been identified in the CF gene. Babies who have one mutation identified, or whose IRT is in the top 0.2% of results without identifiable mutations, are called "screen positive"

Diagnosis with sweat test: CF patients have an increased amount of chloride in their sweat. When sweat chloride concentrations are greater than 60, they are consistent with a diagnosis of CF. 40-60 are borderline and below 40 is a normal level of chloride-patient does NOT have CF.

Edited to say: I'm still "new" to the CF world, 6 month old son. But have researched a lot about CF. I was just trying to answer khar59's question. There may be a few "vererans" to the CF world who may have more to add....... Hope this helps for now!

 

[purplemartin]

Newborn screening in the US is a two step process. 1) A few drops of blood, usually from the baby's heel are collected 24-48 hours after birth. The blood is measured for elevated immunoreactive trypsinogen (IRT), which is usually substantially elevated in newborns with CF. 2) Patients whose specimens with levels in the top 5% are then usually referred to an accredited CF Care Center. From there the child is screened by the sweet test ore by blood test.

Diagnosis with the blood test is made when two mutations of the 1000 plus mutations have been identified in the CF gene. Babies who have one mutation identified, or whose IRT is in the top 0.2% of results without identifiable mutations, are called "screen positive"

Diagnosis with sweat test: CF patients have an increased amount of chloride in their sweat. When sweat chloride concentrations are greater than 60, they are consistent with a diagnosis of CF. 40-60 are borderline and below 40 is a normal level of chloride-patient does NOT have CF.

Edited to say: I'm still "new" to the CF world, 6 month old son. But have researched a lot about CF. I was just trying to answer khar59's question. There may be a few "vererans" to the CF world who may have more to add....... Hope this helps for now!

 

[purplemartin]

Newborn screening in the US is a two step process. 1) A few drops of blood, usually from the baby's heel are collected 24-48 hours after birth. The blood is measured for elevated immunoreactive trypsinogen (IRT), which is usually substantially elevated in newborns with CF. 2) Patients whose specimens with levels in the top 5% are then usually referred to an accredited CF Care Center. From there the child is screened by the sweet test ore by blood test.

Diagnosis with the blood test is made when two mutations of the 1000 plus mutations have been identified in the CF gene. Babies who have one mutation identified, or whose IRT is in the top 0.2% of results without identifiable mutations, are called "screen positive"

Diagnosis with sweat test: CF patients have an increased amount of chloride in their sweat. When sweat chloride concentrations are greater than 60, they are consistent with a diagnosis of CF. 40-60 are borderline and below 40 is a normal level of chloride-patient does NOT have CF.

Edited to say: I'm still "new" to the CF world, 6 month old son. But have researched a lot about CF. I was just trying to answer khar59's question. There may be a few "vererans" to the CF world who may have more to add....... Hope this helps for now!

 

[purplemartin]

Forgot to mention, not every child whose IRT's are elevated will be diagnosed with CF. I beleive it is only about 5% who actually receive the CF diagnosis. The lucky few, right?

 

[purplemartin]

Forgot to mention, not every child whose IRT's are elevated will be diagnosed with CF. I beleive it is only about 5% who actually receive the CF diagnosis. The lucky few, right?

 

[purplemartin]

Forgot to mention, not every child whose IRT's are elevated will be diagnosed with CF. I beleive it is only about 5% who actually receive the CF diagnosis. The lucky few, right?