Get an amnio to know for sure?

tedandjulie

New member
Hi. I am new to the forum and wanted to ask others for any helpful input they might have. My wife and I just learned that we are both carriers for CF. We have one son (who we don't think has CF but are awaiting results of the sweat test) and are expecting our second child. We had an abnormal nuchal translucency test at 14 weeks into the pregnancy. (4.2mm where anything above 3 is considered abnormal) Any chromosome problem was ruled out. We were wondering if others knew of any correlation between the NT and the baby having CF? Of course we are worried and are wondering if we should have the amnio to know for sure. The frustrating thing is that we already had a CVS but they destroyed the tissue samples when the results for chromosome problems came back as normal. Do others recommend getting the amnio so we can know for sure before birth? Thanks for any of your ideas. - Ted
 

tedandjulie

New member
Hi. I am new to the forum and wanted to ask others for any helpful input they might have. My wife and I just learned that we are both carriers for CF. We have one son (who we don't think has CF but are awaiting results of the sweat test) and are expecting our second child. We had an abnormal nuchal translucency test at 14 weeks into the pregnancy. (4.2mm where anything above 3 is considered abnormal) Any chromosome problem was ruled out. We were wondering if others knew of any correlation between the NT and the baby having CF? Of course we are worried and are wondering if we should have the amnio to know for sure. The frustrating thing is that we already had a CVS but they destroyed the tissue samples when the results for chromosome problems came back as normal. Do others recommend getting the amnio so we can know for sure before birth? Thanks for any of your ideas. - Ted
 

JennifersHope

New member
Hi,

Welcome to the site... I can only answer for myself and say.... That is really up to you about the amnio.. IS it going to change anything for you? Would you end the pregnancy if the child did have CF? I guess those are the things you need to think of..I think knowing will help you be as prepared as possible.. Knowing what to expect ahead of time can help you feel more in control.and better prepared. You can learn a lot by the time the baby is born...There is so much to learn.but their are great CF teams of ppl out there to help you through every step of the way.......I feel bad for you because I know how overwhelming things are.....either way.. things get more normal as time goes on...

I just wanted to let you know I have CF I am 33 years old, they didn't even know I had CF till I was 29, though I was sick a lot as a child...Cf comes in all different varations now.I am or was considered mild... Some ppl test positve for CF and the only symptoms they have is no vas deferens... I know someone that has Cf and never been sick a day in their life... Now I don't want to lie.. that is very uncommon.. but CF is not a death sentence and gosh with all these new meds.. Life is getting better and better for Cfers.


I am sure ppl will post who are more in your position, but I just wanted to welcome you and let you know to ask as many questions as you want.... I don't want to overwhelm you at all...about your other son... but some ppl do have normal sweat test and still have CF.. I would recommend a complete CF screening, or since you and your husband tested postive, doing a blood test specific for those genes would be the one sure way to rule it out.

You will be in my thoughts please keep us posted,

Jennifer
33 w/CF and Addison's
 

JennifersHope

New member
Hi,

Welcome to the site... I can only answer for myself and say.... That is really up to you about the amnio.. IS it going to change anything for you? Would you end the pregnancy if the child did have CF? I guess those are the things you need to think of..I think knowing will help you be as prepared as possible.. Knowing what to expect ahead of time can help you feel more in control.and better prepared. You can learn a lot by the time the baby is born...There is so much to learn.but their are great CF teams of ppl out there to help you through every step of the way.......I feel bad for you because I know how overwhelming things are.....either way.. things get more normal as time goes on...

I just wanted to let you know I have CF I am 33 years old, they didn't even know I had CF till I was 29, though I was sick a lot as a child...Cf comes in all different varations now.I am or was considered mild... Some ppl test positve for CF and the only symptoms they have is no vas deferens... I know someone that has Cf and never been sick a day in their life... Now I don't want to lie.. that is very uncommon.. but CF is not a death sentence and gosh with all these new meds.. Life is getting better and better for Cfers.


I am sure ppl will post who are more in your position, but I just wanted to welcome you and let you know to ask as many questions as you want.... I don't want to overwhelm you at all...about your other son... but some ppl do have normal sweat test and still have CF.. I would recommend a complete CF screening, or since you and your husband tested postive, doing a blood test specific for those genes would be the one sure way to rule it out.

You will be in my thoughts please keep us posted,

Jennifer
33 w/CF and Addison's
 

anonymous

New member
Our son has CF (3 yrs) We are ttc again and we will NOT find out prior to the birth. This is our descion, as we did NOT know with Reece. In some ways I would want to know but we will know soon enough. Im sure the docs will do tests on the baby soon after giving birth. It is you & your wifes' decision no one can make you do anything. Good luck!!! Keep us posted.
Leah mommy to Reece w/ CF<img src="i/expressions/angel_ani.gif" border="0">
 

anonymous

New member
Our son has CF (3 yrs) We are ttc again and we will NOT find out prior to the birth. This is our descion, as we did NOT know with Reece. In some ways I would want to know but we will know soon enough. Im sure the docs will do tests on the baby soon after giving birth. It is you & your wifes' decision no one can make you do anything. Good luck!!! Keep us posted.
Leah mommy to Reece w/ CF<img src="i/expressions/angel_ani.gif" border="0">
 

julie

New member
Ted,

Since you and your wife have already been identified as carriers an amnio should give you a very simple yes or no. A child must have 2 CF mutations (one from mom, one from dad) to have CF, and only one CF mutation to be a carrier. There are pro's and con's to an amnio, risks and such. I trust those things have already been discussed with your doctor. There are a few on this site who were diagnosed via amnio when their carrier status and mutations were known. It is a simple match up of your mutations to the sample taken from the amnio.

Things you have to think about and discuss amongst yourselves though: will we terminate the pregnancy if + for CF? If we are + for CF what are we going to do about it? (mental preparation, saving some $$$, ensure adequate insurance coverage). If + for CF, what steps will your doctor/delivery hospital do to ensure a safe delivery-is your hospital even equipped to handle a ruptured bowel, abnormal sized bowel.... if that occurs? If not, will you make a plan B, C...? If it were me, personally I would do it just so I could get prepared. but to each his own, and no judgement for whatever you choose to do and whatever you choose to do based on the results.

As far as a correlation between the NT and CF, I have not heard of this. It is possible someone else might have some more information regarding this though.

I have a question though about the sweat test on your son. Did your doctor give any indication as to why in the world they choose the sweat test (other than it being the cheapest method), or is that the method you requested? I have to scratch my head at this one (if it's the doc's choice) because
1. Sweat tests are known to give false negatives, repeatedly. Many test positive only after a blood test identifies 2 CF mutations.
2. Depending on the age of your son, infants and some very young children don't respond well to the sweat tests (not enough sweat, wouldn't sit still long enough for truely accurate results...)
3. If you two have already been identified as carriers your mutations are known. Why not have a blood test done on your son? That will give you a difinitive YES or NO and will even let you know if he IS or IS NOT a carrier so years down the road when he's starting his own family, he's aware of the situation. I know you didn't ask for any recommendation regarding this, so I hope I don't offend you, but if your son's results come back borderline or if he exhibits anything that resembles a CF symptom I would highly recommend the blood test. They already have you to match it to so it should be a VERY simple test.

Hope this helps a bit, please let us know if you have anymore questions, were here to help!
 

julie

New member
Ted,

Since you and your wife have already been identified as carriers an amnio should give you a very simple yes or no. A child must have 2 CF mutations (one from mom, one from dad) to have CF, and only one CF mutation to be a carrier. There are pro's and con's to an amnio, risks and such. I trust those things have already been discussed with your doctor. There are a few on this site who were diagnosed via amnio when their carrier status and mutations were known. It is a simple match up of your mutations to the sample taken from the amnio.

Things you have to think about and discuss amongst yourselves though: will we terminate the pregnancy if + for CF? If we are + for CF what are we going to do about it? (mental preparation, saving some $$$, ensure adequate insurance coverage). If + for CF, what steps will your doctor/delivery hospital do to ensure a safe delivery-is your hospital even equipped to handle a ruptured bowel, abnormal sized bowel.... if that occurs? If not, will you make a plan B, C...? If it were me, personally I would do it just so I could get prepared. but to each his own, and no judgement for whatever you choose to do and whatever you choose to do based on the results.

As far as a correlation between the NT and CF, I have not heard of this. It is possible someone else might have some more information regarding this though.

I have a question though about the sweat test on your son. Did your doctor give any indication as to why in the world they choose the sweat test (other than it being the cheapest method), or is that the method you requested? I have to scratch my head at this one (if it's the doc's choice) because
1. Sweat tests are known to give false negatives, repeatedly. Many test positive only after a blood test identifies 2 CF mutations.
2. Depending on the age of your son, infants and some very young children don't respond well to the sweat tests (not enough sweat, wouldn't sit still long enough for truely accurate results...)
3. If you two have already been identified as carriers your mutations are known. Why not have a blood test done on your son? That will give you a difinitive YES or NO and will even let you know if he IS or IS NOT a carrier so years down the road when he's starting his own family, he's aware of the situation. I know you didn't ask for any recommendation regarding this, so I hope I don't offend you, but if your son's results come back borderline or if he exhibits anything that resembles a CF symptom I would highly recommend the blood test. They already have you to match it to so it should be a VERY simple test.

Hope this helps a bit, please let us know if you have anymore questions, were here to help!
 

fourkidsmom

New member
Ted,

I had an amnio with my last 2 children. My 4 year old has cf and we found out when I was 7 months pregnant. He had a burst bowel and needed surgery at birth, which if we wouldn't of known we may of lost him. We then were prepared to go to a hospital 2 hours from our home and have a c-section scheduled. I would recommend an amnio, it only takes a few minutes and it isn't that bad. We also had an amnio for the last child, she doesn't have cf, and we thought she was fine until she was about 1 1/2 years old, and found that she has a chromosome disorder. Not related to cf at all and nothing hereditary-- just a fluke--it is like a 1 in 6 million chance of her having her condition. It was a relief at the time to know she did not have cf by having the amnio. I hope this helps you. I just feel it is better to be prepared ahead of time if you are indeed having a child with cf. It helps to be mentally prepared as a couple so you are ready to tackle a new little one if it should have cf. .The test results of the amnio didn't change our minds about having the baby, we just wanted to know what we may be up against.

Angie
Step mom to Brittany 13 no cf (8th grader, piano, swimming, choir)
Mom to Tyler 12 no cf, cf carrier (7th grader- soccer, wrestling, computers)
Mom to Brady 4 with cf (2nd year of preschool, 4 year old going on 30)
Mom to Taylor 3 no cf, but chromsome 9q 21.2 q 22.1 deletion (special needs school, our beautiful little brunette)
 

fourkidsmom

New member
Ted,

I had an amnio with my last 2 children. My 4 year old has cf and we found out when I was 7 months pregnant. He had a burst bowel and needed surgery at birth, which if we wouldn't of known we may of lost him. We then were prepared to go to a hospital 2 hours from our home and have a c-section scheduled. I would recommend an amnio, it only takes a few minutes and it isn't that bad. We also had an amnio for the last child, she doesn't have cf, and we thought she was fine until she was about 1 1/2 years old, and found that she has a chromosome disorder. Not related to cf at all and nothing hereditary-- just a fluke--it is like a 1 in 6 million chance of her having her condition. It was a relief at the time to know she did not have cf by having the amnio. I hope this helps you. I just feel it is better to be prepared ahead of time if you are indeed having a child with cf. It helps to be mentally prepared as a couple so you are ready to tackle a new little one if it should have cf. .The test results of the amnio didn't change our minds about having the baby, we just wanted to know what we may be up against.

Angie
Step mom to Brittany 13 no cf (8th grader, piano, swimming, choir)
Mom to Tyler 12 no cf, cf carrier (7th grader- soccer, wrestling, computers)
Mom to Brady 4 with cf (2nd year of preschool, 4 year old going on 30)
Mom to Taylor 3 no cf, but chromsome 9q 21.2 q 22.1 deletion (special needs school, our beautiful little brunette)
 

CFHockeyMom

New member
Hi Ted,

Welcome to the site.

When I was pregnant with Sean, I too had an abnormally high NT. My Dr. thought it could be because we had calculated my due date incorrectly (I guess the NT test is very sensitive to timing) and redid the test. It came out normal the second time.

At the time, I had no idea that my husband and I were carriers of the CF gene so I didn't think anything about it. However, after Sean was diagnosed, I often wondered if my initial NT results could have been some kind of indicator.

As far as having another amnio, that's a personal decision. I'm sure you know the risks. If you plan on continuing with the pregnancy regardless of a + CF diagnosis then I wouldn't risk another amnio. Just make sure your OB is aware of the possibility of CF and get the baby tested as soon as he/she is born. It wouldn't hurt to start consulting with a CF Dr. from an accredited CF center either.

Hope this helps. Good luck.
 

CFHockeyMom

New member
Hi Ted,

Welcome to the site.

When I was pregnant with Sean, I too had an abnormally high NT. My Dr. thought it could be because we had calculated my due date incorrectly (I guess the NT test is very sensitive to timing) and redid the test. It came out normal the second time.

At the time, I had no idea that my husband and I were carriers of the CF gene so I didn't think anything about it. However, after Sean was diagnosed, I often wondered if my initial NT results could have been some kind of indicator.

As far as having another amnio, that's a personal decision. I'm sure you know the risks. If you plan on continuing with the pregnancy regardless of a + CF diagnosis then I wouldn't risk another amnio. Just make sure your OB is aware of the possibility of CF and get the baby tested as soon as he/she is born. It wouldn't hurt to start consulting with a CF Dr. from an accredited CF center either.

Hope this helps. Good luck.
 

anonymous

New member
Hi Ted,
I just wanted to respond because we are pretty much in the same position- I am pregnant and we are both carriers of CF gene. Our 3 yo son's sweat test came back normal, so barring any health issues, we will assume he doesn't have it. We are also pregnant with our second child and had to decide about an amnio. My husband was totally against it- I had some prior spotting and even though the risks are very small, he did not want to take those risks. I, however, was totally on the fence. Preparing mentally, physically, and financially can be very important. We ended up not having the amnio, so I am preparing myself just as if my child does have CF- getting educated about CF, saving money, and trying to keep myself as healthy as possible. Even if the baby does not have CF, these are all good things to do anyway. We will have the baby tested through cord blood at birth- I don't want to waste any time getting help if we need it. Having said all that, one of the first problems you may experience is a blocked/burst bowel at birth as someone has mentioned. We are getting several extra ultrasounds throughout my pregnancy to keep tabs on anything like that. Currently, they are just watching out for something that doesn't look quite right, but doesn't look wrong either (I know- how unclear is THAT??) Anyways, I feel like we will be prepared for all of the possibilities as much as we can be without the amnio. But it is such a personal decision- I can TOTALLY understand why people do the amnio to know for sure..at least you would know definitely one way or the other. Sorry this got so long-winded and congrats on your upcoming baby!!!!
 

anonymous

New member
Hi Ted,
I just wanted to respond because we are pretty much in the same position- I am pregnant and we are both carriers of CF gene. Our 3 yo son's sweat test came back normal, so barring any health issues, we will assume he doesn't have it. We are also pregnant with our second child and had to decide about an amnio. My husband was totally against it- I had some prior spotting and even though the risks are very small, he did not want to take those risks. I, however, was totally on the fence. Preparing mentally, physically, and financially can be very important. We ended up not having the amnio, so I am preparing myself just as if my child does have CF- getting educated about CF, saving money, and trying to keep myself as healthy as possible. Even if the baby does not have CF, these are all good things to do anyway. We will have the baby tested through cord blood at birth- I don't want to waste any time getting help if we need it. Having said all that, one of the first problems you may experience is a blocked/burst bowel at birth as someone has mentioned. We are getting several extra ultrasounds throughout my pregnancy to keep tabs on anything like that. Currently, they are just watching out for something that doesn't look quite right, but doesn't look wrong either (I know- how unclear is THAT??) Anyways, I feel like we will be prepared for all of the possibilities as much as we can be without the amnio. But it is such a personal decision- I can TOTALLY understand why people do the amnio to know for sure..at least you would know definitely one way or the other. Sorry this got so long-winded and congrats on your upcoming baby!!!!
 

1princess

New member
We are in the same position as the last poster - have a 3 year old - she had a sweat test and it came back negative. Our pediatrician recommended going that route first and if the test was borderline or higher we would to the blood test - I guess just because they don't want to freak the little kids out with a blood test. Plus our daughter has shown no signs of CF.

Anyway, we found out we were carriers this pregnancy and choose not to do the amnio. We had three Level 2 ultrasounds and one regular ultrasound just looking for abnormalities in the bowel area. Everything looks good for us so far and we will have our baby's cordblood tested when she is born - NEXT WEDNESDAY!!!!!

Good luck with everything and congrats on the pregnancy - enjoy it and try not to stress too much.
 

1princess

New member
We are in the same position as the last poster - have a 3 year old - she had a sweat test and it came back negative. Our pediatrician recommended going that route first and if the test was borderline or higher we would to the blood test - I guess just because they don't want to freak the little kids out with a blood test. Plus our daughter has shown no signs of CF.

Anyway, we found out we were carriers this pregnancy and choose not to do the amnio. We had three Level 2 ultrasounds and one regular ultrasound just looking for abnormalities in the bowel area. Everything looks good for us so far and we will have our baby's cordblood tested when she is born - NEXT WEDNESDAY!!!!!

Good luck with everything and congrats on the pregnancy - enjoy it and try not to stress too much.
 

HD

New member
Unfortunetly the tests you had done do not screen for CF. It is unfortunete they destroyed the CVs. For me if we had another pregnacy i would get the amnio. For me, the worrying would be hard to deal with and I would need to know for sure, but I understand the other side as well!
 

HD

New member
Unfortunetly the tests you had done do not screen for CF. It is unfortunete they destroyed the CVs. For me if we had another pregnacy i would get the amnio. For me, the worrying would be hard to deal with and I would need to know for sure, but I understand the other side as well!
 

anonymous

New member
Hello,

My husband and I were in this same postion two years ago. We decided to have the amnio. For us it was the right decision. We were able to grieve before our son was born. We had already decided we would not terminate if the results were positive. At the time we also had a three year old and I would have felt horrible if he was also positive and we had waited another five months to find out. We had our three year old sweat tested two weeks after the amnio. He was negative for CF.

Good luck with whatever you decide. I could not imagine my life without each of my children. They are blessings from above.

Paula
 

anonymous

New member
Hello,

My husband and I were in this same postion two years ago. We decided to have the amnio. For us it was the right decision. We were able to grieve before our son was born. We had already decided we would not terminate if the results were positive. At the time we also had a three year old and I would have felt horrible if he was also positive and we had waited another five months to find out. We had our three year old sweat tested two weeks after the amnio. He was negative for CF.

Good luck with whatever you decide. I could not imagine my life without each of my children. They are blessings from above.

Paula
 
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