Pregnancy and DF508 gene mutation

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

jacobsmama · Jun 29, 2007

I have a family history of cystic fibrosis. I had a cousin who passed away at six due to complications with this illness. I can remember her being severely ill from the beginning of her life.

My husband and I would like to start our own family. I chose to be screened for cystic fibrosis and learned that I am a carrier of the DF508 gene. My husband was also screened and we learned that he too is a carrier of the DF508 gene. My doctor informed us that this can result in the most severe symptoms of cystic fibrosis. Can anyone tell me what we miight expect? We are not pregnant at the moment but I would like to be as informed as possible. I have also heard about pre-genetic testing. This might be something we would look into because I have seen the effects of cystic fibrosis with my cousin.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

LouLou · Jun 29, 2007

You two have AT LEAST at 25% chance of creating a baby with cf.

I say AT LEAST because the fact that you both carry the most common gene makes me wonder what lab did your test and was it as extensive as possible. Look at the results, who preformed the test? You want to get it done by Ambry or Quest. All cf carrier testing companies can pick up on DF508 but did you know there are 1500 mutations? Believe it or not it's possible that you or your husband could carry an additional mutation. By definition this would mean the person would have cf but there's many cases being found of people not showing cf symptoms or showing them late in life. Often times these people aren't given the diagnosis. It might be something to keep in mind - especially if either of you deal with ANY of the following - asthma like symptoms, thinness dispite a large appetite, sinus problems or constipation (or diahrea). In this case, if one of you actually had two mutations then together you'd have a 50% chance of creating a cf baby and 100% of your off spring would be carriers.

DF508 is a class II mutation. There are 5 classes. Generally the severity declines with each class. So technically two DF508 mutations isn't the worst combo but it should also be noted that what mutation you have doesn't predict one's outcome. Take for example two twins both with cf, they have the same mutations clearly but one requires a transplant in youth and dies waiting for lungs while the other is 39 years old and still alive. Generally, I don't think double deltas are the one's breaking records with the life expectancy though.

One things for sure, if your baby has cf. He or she will require your 100% care in preventing their cf from raveging his or her little body. It will take your attention until they are 18 most likely and able to care for themselves.

Options:
1) Testing once pregnant at which point you could terminate if you two had decided this was your plan. I believe you have to wait until 13 weeks for this test.
2) PGD
<a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis
">http://en.wikipedia.org/wiki/P...ion_genetic_diagnosis
</a>Basically IVF but the screen out the embryo's that have two mutations.

Option 1 is obviously a lot less expensive but comes with some hefty decisions that need to be made.

jacobsmama · Jul 1, 2007