CF screened neg during pregnancy - still possible?

[Alexmommy]

Hi all -

First of all, this website is amazing! What a great resource for parents, families, and patients! I've learned a lot about this disease in the last week. You folks are amazing, and so positive and supportive!

So, my question....My son, Alex, is 15 months, and is doing a sweat test tomorrow to rule out possible CF. He is 19.5 lbs, and the pediatrician is concerned with the underlying cause of his low weight. He has had a chronic cough since he was born, which seems to be getting worse. He also sometimes (but not always) has mucusy, runny stools. Otherwise he has been a pretty healthy kid. He's been worked up for asthma, but the doctor wants to do the sweat test to rule out CF.

I remembered being screened for CF during my pregnancy, and I called my OB on Friday, who confirmed that my testing was negative. My question is, does anyone know if a pre-natal test for CF is definitive, or is there still a possibilty that my son has CF?

Would love to hear your thoughts. Thanks!

 

[Alexmommy]

Hi all -

First of all, this website is amazing! What a great resource for parents, families, and patients! I've learned a lot about this disease in the last week. You folks are amazing, and so positive and supportive!

So, my question....My son, Alex, is 15 months, and is doing a sweat test tomorrow to rule out possible CF. He is 19.5 lbs, and the pediatrician is concerned with the underlying cause of his low weight. He has had a chronic cough since he was born, which seems to be getting worse. He also sometimes (but not always) has mucusy, runny stools. Otherwise he has been a pretty healthy kid. He's been worked up for asthma, but the doctor wants to do the sweat test to rule out CF.

I remembered being screened for CF during my pregnancy, and I called my OB on Friday, who confirmed that my testing was negative. My question is, does anyone know if a pre-natal test for CF is definitive, or is there still a possibilty that my son has CF?

Would love to hear your thoughts. Thanks!

 

[Alexmommy]

Hi all -

First of all, this website is amazing! What a great resource for parents, families, and patients! I've learned a lot about this disease in the last week. You folks are amazing, and so positive and supportive!

So, my question....My son, Alex, is 15 months, and is doing a sweat test tomorrow to rule out possible CF. He is 19.5 lbs, and the pediatrician is concerned with the underlying cause of his low weight. He has had a chronic cough since he was born, which seems to be getting worse. He also sometimes (but not always) has mucusy, runny stools. Otherwise he has been a pretty healthy kid. He's been worked up for asthma, but the doctor wants to do the sweat test to rule out CF.

I remembered being screened for CF during my pregnancy, and I called my OB on Friday, who confirmed that my testing was negative. My question is, does anyone know if a pre-natal test for CF is definitive, or is there still a possibilty that my son has CF?

Would love to hear your thoughts. Thanks!

 

[sdelorenzo]

Yes, it is possible for you to carry the cf gene even though you tested negative when you were pregnant. The test you took only looks for the most common (I think 90%) of the genes. I think the test only looks for 30 of the more than 1000 cf genes that have been identified. So perhaps you carry one of the less common cf genes? Sometimes people are diagnosed with cf even though they can't identify the genes. They are identifying new ones each year. Hopefully your son will not have cf. I will be praying for a negative sweat test for your son and peace for you. But it is good that pediatrician is trying to eliminate all possibilities.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf

 

[sdelorenzo]

Yes, it is possible for you to carry the cf gene even though you tested negative when you were pregnant. The test you took only looks for the most common (I think 90%) of the genes. I think the test only looks for 30 of the more than 1000 cf genes that have been identified. So perhaps you carry one of the less common cf genes? Sometimes people are diagnosed with cf even though they can't identify the genes. They are identifying new ones each year. Hopefully your son will not have cf. I will be praying for a negative sweat test for your son and peace for you. But it is good that pediatrician is trying to eliminate all possibilities.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf

 

[sdelorenzo]

Yes, it is possible for you to carry the cf gene even though you tested negative when you were pregnant. The test you took only looks for the most common (I think 90%) of the genes. I think the test only looks for 30 of the more than 1000 cf genes that have been identified. So perhaps you carry one of the less common cf genes? Sometimes people are diagnosed with cf even though they can't identify the genes. They are identifying new ones each year. Hopefully your son will not have cf. I will be praying for a negative sweat test for your son and peace for you. But it is good that pediatrician is trying to eliminate all possibilities.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf

 

[Ratatosk]

The nurse who gave me my flu shot last year asked me why I needed to get one and I explained DS had CF and she (who was visibly pregnant) said, "they thought my baby did at first". But she didn't elaborate.

She and her son were at our CF walk -- turns out they discovered he did have it thru newborn screening.

 

[Ratatosk]

The nurse who gave me my flu shot last year asked me why I needed to get one and I explained DS had CF and she (who was visibly pregnant) said, "they thought my baby did at first". But she didn't elaborate.

She and her son were at our CF walk -- turns out they discovered he did have it thru newborn screening.

 

[Ratatosk]

The nurse who gave me my flu shot last year asked me why I needed to get one and I explained DS had CF and she (who was visibly pregnant) said, "they thought my baby did at first". But she didn't elaborate.

She and her son were at our CF walk -- turns out they discovered he did have it thru newborn screening.

 

[Alyssa]

Yes, unfortunately it is still possible -- screenings are just that "screening" A sweat test along with FULL Genetic blood testing should be done -- there are over 1500 genes to test for. He has two very classic CF symptoms -- that doesn't mean that it is CF, but it does mean you should use every diagnostic tool to either rule it out or start treating him "as if" he has CF

Best of luck - please let us know what the results are of the sweat test, and if anyone is recommending full genetic testing.

 

[Alyssa]

Yes, unfortunately it is still possible -- screenings are just that "screening" A sweat test along with FULL Genetic blood testing should be done -- there are over 1500 genes to test for. He has two very classic CF symptoms -- that doesn't mean that it is CF, but it does mean you should use every diagnostic tool to either rule it out or start treating him "as if" he has CF

Best of luck - please let us know what the results are of the sweat test, and if anyone is recommending full genetic testing.

 

[Alyssa]

Yes, unfortunately it is still possible -- screenings are just that "screening" A sweat test along with FULL Genetic blood testing should be done -- there are over 1500 genes to test for. He has two very classic CF symptoms -- that doesn't mean that it is CF, but it does mean you should use every diagnostic tool to either rule it out or start treating him "as if" he has CF

Best of luck - please let us know what the results are of the sweat test, and if anyone is recommending full genetic testing.

 

[JazzysMom]

I agree that a screening is just that. It looks for "red flags" that would warrant additional testing. However; screenings dont capture a lot so it is possible.

 

[JazzysMom]

I agree that a screening is just that. It looks for "red flags" that would warrant additional testing. However; screenings dont capture a lot so it is possible.

 

[JazzysMom]

I agree that a screening is just that. It looks for "red flags" that would warrant additional testing. However; screenings dont capture a lot so it is possible.