Amnio and diagnosis

[kimmad]

I have a 2 1/2 year old son who has had constant health issues since he's been born. One possibility that has been raised is CF, and will be getting the sweat chloride test as soon as we can.

Here's my question: Because I was older, and the prescreening came back high risk for downs, I had an amnio with this child. I see that some people had children diagnosed in utero. Should the amnio have shown this? Is it possible to be missed, a false negative?

Stupid us, we declined the newborn screening test as there is no CF in the family as far as I know, and because the amnio came back fine. But he has a severe case of reflux (still), constant ear, throat, sinus infections, pneumonia...etc. So it sounds like a definite possibility, but I really thought the amnio would have shown it???

Thanks for your help.

 

[kimmad]

I have a 2 1/2 year old son who has had constant health issues since he's been born. One possibility that has been raised is CF, and will be getting the sweat chloride test as soon as we can.

Here's my question: Because I was older, and the prescreening came back high risk for downs, I had an amnio with this child. I see that some people had children diagnosed in utero. Should the amnio have shown this? Is it possible to be missed, a false negative?

Stupid us, we declined the newborn screening test as there is no CF in the family as far as I know, and because the amnio came back fine. But he has a severe case of reflux (still), constant ear, throat, sinus infections, pneumonia...etc. So it sounds like a definite possibility, but I really thought the amnio would have shown it???

Thanks for your help.

 

[kimmad]

I have a 2 1/2 year old son who has had constant health issues since he's been born. One possibility that has been raised is CF, and will be getting the sweat chloride test as soon as we can.

Here's my question: Because I was older, and the prescreening came back high risk for downs, I had an amnio with this child. I see that some people had children diagnosed in utero. Should the amnio have shown this? Is it possible to be missed, a false negative?

Stupid us, we declined the newborn screening test as there is no CF in the family as far as I know, and because the amnio came back fine. But he has a severe case of reflux (still), constant ear, throat, sinus infections, pneumonia...etc. So it sounds like a definite possibility, but I really thought the amnio would have shown it???

Thanks for your help.

 

[kimmad]

I have a 2 1/2 year old son who has had constant health issues since he's been born. One possibility that has been raised is CF, and will be getting the sweat chloride test as soon as we can.

Here's my question: Because I was older, and the prescreening came back high risk for downs, I had an amnio with this child. I see that some people had children diagnosed in utero. Should the amnio have shown this? Is it possible to be missed, a false negative?

Stupid us, we declined the newborn screening test as there is no CF in the family as far as I know, and because the amnio came back fine. But he has a severe case of reflux (still), constant ear, throat, sinus infections, pneumonia...etc. So it sounds like a definite possibility, but I really thought the amnio would have shown it???

Thanks for your help.

 

[kimmad]

I have a 2 1/2 year old son who has had constant health issues since he's been born. One possibility that has been raised is CF, and will be getting the sweat chloride test as soon as we can.
<br />
<br />Here's my question: Because I was older, and the prescreening came back high risk for downs, I had an amnio with this child. I see that some people had children diagnosed in utero. Should the amnio have shown this? Is it possible to be missed, a false negative?
<br />
<br />Stupid us, we declined the newborn screening test as there is no CF in the family as far as I know, and because the amnio came back fine. But he has a severe case of reflux (still), constant ear, throat, sinus infections, pneumonia...etc. So it sounds like a definite possibility, but I really thought the amnio would have shown it???
<br />
<br />Thanks for your help.

 

[Mommafirst]

WE weren't diagnosed in utero, so I'm not positive -- but I think that in order to diagnose CF in utero you would need to specifically be looking for it. As in take the amniotic fluid and send to Ambry for genetic work. I don't think its part of the routine work.

 

[Mommafirst]

WE weren't diagnosed in utero, so I'm not positive -- but I think that in order to diagnose CF in utero you would need to specifically be looking for it. As in take the amniotic fluid and send to Ambry for genetic work. I don't think its part of the routine work.

 

[Mommafirst]

WE weren't diagnosed in utero, so I'm not positive -- but I think that in order to diagnose CF in utero you would need to specifically be looking for it. As in take the amniotic fluid and send to Ambry for genetic work. I don't think its part of the routine work.

 

[Mommafirst]

WE weren't diagnosed in utero, so I'm not positive -- but I think that in order to diagnose CF in utero you would need to specifically be looking for it. As in take the amniotic fluid and send to Ambry for genetic work. I don't think its part of the routine work.

 

[Mommafirst]

WE weren't diagnosed in utero, so I'm not positive -- but I think that in order to diagnose CF in utero you would need to specifically be looking for it. As in take the amniotic fluid and send to Ambry for genetic work. I don't think its part of the routine work.

 

[amber682]

I agree with Heather, you'd have to be specifically looking for it.

 

[amber682]

I agree with Heather, you'd have to be specifically looking for it.

 

[amber682]

I agree with Heather, you'd have to be specifically looking for it.

 

[amber682]

I agree with Heather, you'd have to be specifically looking for it.

 

[amber682]

I agree with Heather, you'd have to be specifically looking for it.

 

[hopesiris]

They'd have to know what two mutations to look for to diagnose CF prenatally. I think it's standard procedure for a basic CF blood test to be done on the pregnant mother, and if she comes up positive then the father is tested. If you carry a mutation that wouldn't show up on a basic test then your husband wouldn't be tested and CF risk could be easily missed. Unfortunately the comprehensive tests are very expensive so they aren't done on expecting parents.

Sweat chloride tests can be normal and CF still be present, a full panel genetic test is the best way to be sure the results are accurate.

 

[hopesiris]

They'd have to know what two mutations to look for to diagnose CF prenatally. I think it's standard procedure for a basic CF blood test to be done on the pregnant mother, and if she comes up positive then the father is tested. If you carry a mutation that wouldn't show up on a basic test then your husband wouldn't be tested and CF risk could be easily missed. Unfortunately the comprehensive tests are very expensive so they aren't done on expecting parents.

Sweat chloride tests can be normal and CF still be present, a full panel genetic test is the best way to be sure the results are accurate.

 

[hopesiris]

They'd have to know what two mutations to look for to diagnose CF prenatally. I think it's standard procedure for a basic CF blood test to be done on the pregnant mother, and if she comes up positive then the father is tested. If you carry a mutation that wouldn't show up on a basic test then your husband wouldn't be tested and CF risk could be easily missed. Unfortunately the comprehensive tests are very expensive so they aren't done on expecting parents.

Sweat chloride tests can be normal and CF still be present, a full panel genetic test is the best way to be sure the results are accurate.

 

[hopesiris]

They'd have to know what two mutations to look for to diagnose CF prenatally. I think it's standard procedure for a basic CF blood test to be done on the pregnant mother, and if she comes up positive then the father is tested. If you carry a mutation that wouldn't show up on a basic test then your husband wouldn't be tested and CF risk could be easily missed. Unfortunately the comprehensive tests are very expensive so they aren't done on expecting parents.

Sweat chloride tests can be normal and CF still be present, a full panel genetic test is the best way to be sure the results are accurate.

 

[hopesiris]

They'd have to know what two mutations to look for to diagnose CF prenatally. I think it's standard procedure for a basic CF blood test to be done on the pregnant mother, and if she comes up positive then the father is tested. If you carry a mutation that wouldn't show up on a basic test then your husband wouldn't be tested and CF risk could be easily missed. Unfortunately the comprehensive tests are very expensive so they aren't done on expecting parents.
<br />
<br />Sweat chloride tests can be normal and CF still be present, a full panel genetic test is the best way to be sure the results are accurate.