Cf Testing

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carrierae21

New member
The newborn screening missed my dd's CF...
I'm in a different position, I'm the carrier and she's the one w/ CF but I went through a lot of this when I was preggo.
My hubby and I found out when we were pregnant that we were both carriers of CF. My dr wanted to an amnio once we found once we were both carriers but we opted not to. So when the baby came and then the newborn screening showed no CF we were so relieved!!!! But as it turns out, dd does in fact have CF, the newborn screening missed it. It is not quite as reliable as we would like it to be, in my opinion!
I'm not saying your son has CF, just that the newborn screening isn't the best resource when we are talking about something this serious. I'd say to fight the insurance company and make them pay more, get your pediatrician involved! In the long run, a genetic test is less expensive then the sweat test!
 
C

carrierae21

New member
The newborn screening missed my dd's CF...
I'm in a different position, I'm the carrier and she's the one w/ CF but I went through a lot of this when I was preggo.
My hubby and I found out when we were pregnant that we were both carriers of CF. My dr wanted to an amnio once we found once we were both carriers but we opted not to. So when the baby came and then the newborn screening showed no CF we were so relieved!!!! But as it turns out, dd does in fact have CF, the newborn screening missed it. It is not quite as reliable as we would like it to be, in my opinion!
I'm not saying your son has CF, just that the newborn screening isn't the best resource when we are talking about something this serious. I'd say to fight the insurance company and make them pay more, get your pediatrician involved! In the long run, a genetic test is less expensive then the sweat test!
 
C

carrierae21

New member
The newborn screening missed my dd's CF...
I'm in a different position, I'm the carrier and she's the one w/ CF but I went through a lot of this when I was preggo.
My hubby and I found out when we were pregnant that we were both carriers of CF. My dr wanted to an amnio once we found once we were both carriers but we opted not to. So when the baby came and then the newborn screening showed no CF we were so relieved!!!! But as it turns out, dd does in fact have CF, the newborn screening missed it. It is not quite as reliable as we would like it to be, in my opinion!
I'm not saying your son has CF, just that the newborn screening isn't the best resource when we are talking about something this serious. I'd say to fight the insurance company and make them pay more, get your pediatrician involved! In the long run, a genetic test is less expensive then the sweat test!
 
C

carrierae21

New member
The newborn screening missed my dd's CF...
I'm in a different position, I'm the carrier and she's the one w/ CF but I went through a lot of this when I was preggo.
My hubby and I found out when we were pregnant that we were both carriers of CF. My dr wanted to an amnio once we found once we were both carriers but we opted not to. So when the baby came and then the newborn screening showed no CF we were so relieved!!!! But as it turns out, dd does in fact have CF, the newborn screening missed it. It is not quite as reliable as we would like it to be, in my opinion!
I'm not saying your son has CF, just that the newborn screening isn't the best resource when we are talking about something this serious. I'd say to fight the insurance company and make them pay more, get your pediatrician involved! In the long run, a genetic test is less expensive then the sweat test!
 
C

carrierae21

New member
The newborn screening missed my dd's CF...
<br />I'm in a different position, I'm the carrier and she's the one w/ CF but I went through a lot of this when I was preggo.
<br />My hubby and I found out when we were pregnant that we were both carriers of CF. My dr wanted to an amnio once we found once we were both carriers but we opted not to. So when the baby came and then the newborn screening showed no CF we were so relieved!!!! But as it turns out, dd does in fact have CF, the newborn screening missed it. It is not quite as reliable as we would like it to be, in my opinion!
<br />I'm not saying your son has CF, just that the newborn screening isn't the best resource when we are talking about something this serious. I'd say to fight the insurance company and make them pay more, get your pediatrician involved! In the long run, a genetic test is less expensive then the sweat test!
 
M

mamaScarlett

Active member
(i have cf)
My daughter had the newborn screening which was neg. My clinic also told me not to freak if I got a positive result as we know she would be a carrier...but still, it showed nothing. She also had another screening when she was a year old as part of an additional optional screening program in NJ.
My husband and I opted for the full panel mutation testing before we conceived. My husband was negative.
I have one Df508 and one rare, obscure mutation. Obviously my daughter is a carrier.
I have peace of mind and have not chosen to pursue any other testing.
I also am not fully understanding your worry. Do you see any symptoms in your lo that concern you, or is there something I missed. If you think that the carrier test missed your husband, then I see why you'd want to test the baby.
The baby DOES have a mutation from you-If you are a DDF508-than he has one. All children of pwcf are carriers.

Also, I don't think that the newborn screening genotypes-I believe it just raises the Cf flag. But it doesn't lay out which mutation is there. (someone correct me if I'm wrong)
 
M

mamaScarlett

Active member
(i have cf)
My daughter had the newborn screening which was neg. My clinic also told me not to freak if I got a positive result as we know she would be a carrier...but still, it showed nothing. She also had another screening when she was a year old as part of an additional optional screening program in NJ.
My husband and I opted for the full panel mutation testing before we conceived. My husband was negative.
I have one Df508 and one rare, obscure mutation. Obviously my daughter is a carrier.
I have peace of mind and have not chosen to pursue any other testing.
I also am not fully understanding your worry. Do you see any symptoms in your lo that concern you, or is there something I missed. If you think that the carrier test missed your husband, then I see why you'd want to test the baby.
The baby DOES have a mutation from you-If you are a DDF508-than he has one. All children of pwcf are carriers.

Also, I don't think that the newborn screening genotypes-I believe it just raises the Cf flag. But it doesn't lay out which mutation is there. (someone correct me if I'm wrong)
 
M

mamaScarlett

Active member
(i have cf)
My daughter had the newborn screening which was neg. My clinic also told me not to freak if I got a positive result as we know she would be a carrier...but still, it showed nothing. She also had another screening when she was a year old as part of an additional optional screening program in NJ.
My husband and I opted for the full panel mutation testing before we conceived. My husband was negative.
I have one Df508 and one rare, obscure mutation. Obviously my daughter is a carrier.
I have peace of mind and have not chosen to pursue any other testing.
I also am not fully understanding your worry. Do you see any symptoms in your lo that concern you, or is there something I missed. If you think that the carrier test missed your husband, then I see why you'd want to test the baby.
The baby DOES have a mutation from you-If you are a DDF508-than he has one. All children of pwcf are carriers.

Also, I don't think that the newborn screening genotypes-I believe it just raises the Cf flag. But it doesn't lay out which mutation is there. (someone correct me if I'm wrong)
 
M

mamaScarlett

Active member
(i have cf)
My daughter had the newborn screening which was neg. My clinic also told me not to freak if I got a positive result as we know she would be a carrier...but still, it showed nothing. She also had another screening when she was a year old as part of an additional optional screening program in NJ.
My husband and I opted for the full panel mutation testing before we conceived. My husband was negative.
I have one Df508 and one rare, obscure mutation. Obviously my daughter is a carrier.
I have peace of mind and have not chosen to pursue any other testing.
I also am not fully understanding your worry. Do you see any symptoms in your lo that concern you, or is there something I missed. If you think that the carrier test missed your husband, then I see why you'd want to test the baby.
The baby DOES have a mutation from you-If you are a DDF508-than he has one. All children of pwcf are carriers.

Also, I don't think that the newborn screening genotypes-I believe it just raises the Cf flag. But it doesn't lay out which mutation is there. (someone correct me if I'm wrong)
 
M

mamaScarlett

Active member
(i have cf)
<br />My daughter had the newborn screening which was neg. My clinic also told me not to freak if I got a positive result as we know she would be a carrier...but still, it showed nothing. She also had another screening when she was a year old as part of an additional optional screening program in NJ.
<br />My husband and I opted for the full panel mutation testing before we conceived. My husband was negative.
<br />I have one Df508 and one rare, obscure mutation. Obviously my daughter is a carrier.
<br />I have peace of mind and have not chosen to pursue any other testing.
<br />I also am not fully understanding your worry. Do you see any symptoms in your lo that concern you, or is there something I missed. If you think that the carrier test missed your husband, then I see why you'd want to test the baby.
<br />The baby DOES have a mutation from you-If you are a DDF508-than he has one. All children of pwcf are carriers.
<br />
<br />Also, I don't think that the newborn screening genotypes-I believe it just raises the Cf flag. But it doesn't lay out which mutation is there. (someone correct me if I'm wrong)
 
K

Kristen

New member
Like others said, you know Nicolas is a carrier of Df508. If your husband tested negative on the regular carrier testing, that lowers the odds of Nicolas having CF - how much depends on how many mutations they tested for. My husband had a 97 panel test done, which lowered the odds of our baby having CF to about 1 in 500 - which is still higher than "any other child" (I think their odds are 1 in 2000 or 1 in 2500, right?), but was something we felt comfortable with after talking to multiple doctors about it.

However, didn't Nicolas also pass a sweat test? I remember you saying he came back as not having CF as part of the newborn screening, and for some reason I thought they did a sweat test. I would think that would lower the odds of him having CF even more, although I have no idea how much. Plus, if he isn't showing symptoms, I don't know if it's worth worrying about - afterall, you having CF yourself, you'll be very attune to anything that might come up.

My husband and I were having this discussion a few weeks ago and he felt that you could spend yourself into oblivion making sure that your child does not have every single disease out there, which it sounds like is the way your husband is thinking. However, we think about CF more because we have it and live it. I'm still on the fence about it, but MH is convinced we don't need to spend the $1600 to do the enhanced panel for the reasons I mentioned above. I know there are others who disagree with this...it makes me think what matters most is what you feel comfortable with.

Sorry if this was just a long ramble - it's on my mind too and I'm still thinking things through!
 
K

Kristen

New member
Like others said, you know Nicolas is a carrier of Df508. If your husband tested negative on the regular carrier testing, that lowers the odds of Nicolas having CF - how much depends on how many mutations they tested for. My husband had a 97 panel test done, which lowered the odds of our baby having CF to about 1 in 500 - which is still higher than "any other child" (I think their odds are 1 in 2000 or 1 in 2500, right?), but was something we felt comfortable with after talking to multiple doctors about it.

However, didn't Nicolas also pass a sweat test? I remember you saying he came back as not having CF as part of the newborn screening, and for some reason I thought they did a sweat test. I would think that would lower the odds of him having CF even more, although I have no idea how much. Plus, if he isn't showing symptoms, I don't know if it's worth worrying about - afterall, you having CF yourself, you'll be very attune to anything that might come up.

My husband and I were having this discussion a few weeks ago and he felt that you could spend yourself into oblivion making sure that your child does not have every single disease out there, which it sounds like is the way your husband is thinking. However, we think about CF more because we have it and live it. I'm still on the fence about it, but MH is convinced we don't need to spend the $1600 to do the enhanced panel for the reasons I mentioned above. I know there are others who disagree with this...it makes me think what matters most is what you feel comfortable with.

Sorry if this was just a long ramble - it's on my mind too and I'm still thinking things through!
 
K

Kristen

New member
Like others said, you know Nicolas is a carrier of Df508. If your husband tested negative on the regular carrier testing, that lowers the odds of Nicolas having CF - how much depends on how many mutations they tested for. My husband had a 97 panel test done, which lowered the odds of our baby having CF to about 1 in 500 - which is still higher than "any other child" (I think their odds are 1 in 2000 or 1 in 2500, right?), but was something we felt comfortable with after talking to multiple doctors about it.
<br />
<br />However, didn't Nicolas also pass a sweat test? I remember you saying he came back as not having CF as part of the newborn screening, and for some reason I thought they did a sweat test. I would think that would lower the odds of him having CF even more, although I have no idea how much. Plus, if he isn't showing symptoms, I don't know if it's worth worrying about - afterall, you having CF yourself, you'll be very attune to anything that might come up.
<br />
<br />My husband and I were having this discussion a few weeks ago and he felt that you could spend yourself into oblivion making sure that your child does not have every single disease out there, which it sounds like is the way your husband is thinking. However, we think about CF more because we have it and live it. I'm still on the fence about it, but MH is convinced we don't need to spend the $1600 to do the enhanced panel for the reasons I mentioned above. I know there are others who disagree with this...it makes me think what matters most is what you feel comfortable with.
<br />
<br />Sorry if this was just a long ramble - it's on my mind too and I'm still thinking things through!
 
L

LouLou

New member
Well you all know how I feel... I begin to feel like a broken record repeating our story. The OP has consulted me and will be having additional testing I do believe because her husband was not tested for over 1K mutations. Most people with cf (since becoming a member here in 06 many have passed through) feel it necessary to either rule out a cf gene in their spouse with sequencing (over 1000 mutations NOT a panel test) or testing the newborn through sequencing (Ambry amplified, Genzyme over 1000 mutations). If two genes are found sweat testing will be suggested as a help in the diagnostic process since diangosis can't be done purely on mutations. Although Isaac still hasn't shown symptoms at 3. Being in the cf world he gets throat cultured where we found my MRSA (which probably most kids of cf parents with MRSA have since you do not have to have compromised airways to culture it). We know to treat with specific abx not just run of the mill pediatric abx in his case. I like this because it saves him from getting damaged airways and we get rid of it in the household faster. Remember knowledge is power and if you are thinking about it. Wouldn't you rather know than find out later and have regrets about not having done dilegance?! Christian, Caroline and Julie (and many others) all were smart enough to have their partners sequenced. I don't believe it's necessary to sequence the baby if the spouse was sequenced.
 
L

LouLou

New member
Well you all know how I feel... I begin to feel like a broken record repeating our story. The OP has consulted me and will be having additional testing I do believe because her husband was not tested for over 1K mutations. Most people with cf (since becoming a member here in 06 many have passed through) feel it necessary to either rule out a cf gene in their spouse with sequencing (over 1000 mutations NOT a panel test) or testing the newborn through sequencing (Ambry amplified, Genzyme over 1000 mutations). If two genes are found sweat testing will be suggested as a help in the diagnostic process since diangosis can't be done purely on mutations. Although Isaac still hasn't shown symptoms at 3. Being in the cf world he gets throat cultured where we found my MRSA (which probably most kids of cf parents with MRSA have since you do not have to have compromised airways to culture it). We know to treat with specific abx not just run of the mill pediatric abx in his case. I like this because it saves him from getting damaged airways and we get rid of it in the household faster. Remember knowledge is power and if you are thinking about it. Wouldn't you rather know than find out later and have regrets about not having done dilegance?! Christian, Caroline and Julie (and many others) all were smart enough to have their partners sequenced. I don't believe it's necessary to sequence the baby if the spouse was sequenced.
 
L

LouLou

New member
Well you all know how I feel... I begin to feel like a broken record repeating our story. The OP has consulted me and will be having additional testing I do believe because her husband was not tested for over 1K mutations. Most people with cf (since becoming a member here in 06 many have passed through) feel it necessary to either rule out a cf gene in their spouse with sequencing (over 1000 mutations NOT a panel test) or testing the newborn through sequencing (Ambry amplified, Genzyme over 1000 mutations). If two genes are found sweat testing will be suggested as a help in the diagnostic process since diangosis can't be done purely on mutations. Although Isaac still hasn't shown symptoms at 3. Being in the cf world he gets throat cultured where we found my MRSA (which probably most kids of cf parents with MRSA have since you do not have to have compromised airways to culture it). We know to treat with specific abx not just run of the mill pediatric abx in his case. I like this because it saves him from getting damaged airways and we get rid of it in the household faster. Remember knowledge is power and if you are thinking about it. Wouldn't you rather know than find out later and have regrets about not having done dilegance?! Christian, Caroline and Julie (and many others) all were smart enough to have their partners sequenced. I don't believe it's necessary to sequence the baby if the spouse was sequenced.
 
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