IUI with Sperm Wash

LouLou

New member
denise, just wondering why were you and your husband screened so thoroughly? it's a blessing and a curse finding out about it...especially yours and my situation where our babes will likely be very mildly effected. what mutations do you and hubby have?
 

LouLou

New member
denise, just wondering why were you and your husband screened so thoroughly? it's a blessing and a curse finding out about it...especially yours and my situation where our babes will likely be very mildly effected. what mutations do you and hubby have?
 

LouLou

New member
denise, just wondering why were you and your husband screened so thoroughly? it's a blessing and a curse finding out about it...especially yours and my situation where our babes will likely be very mildly effected. what mutations do you and hubby have?
 

LouLou

New member
denise, just wondering why were you and your husband screened so thoroughly? it's a blessing and a curse finding out about it...especially yours and my situation where our babes will likely be very mildly effected. what mutations do you and hubby have?
 

LouLou

New member
denise, just wondering why were you and your husband screened so thoroughly? it's a blessing and a curse finding out about it...especially yours and my situation where our babes will likely be very mildly effected. what mutations do you and hubby have?
 

denise25

New member
Thank you ladies for all your insight I truly appreciate it. I guess I happen to have really good Dr's. I have no one in my family with CF or anyone that knows of being a carrier. Sounds familiar i'm sure. The mutation I have is 2789+G<A ( I may have the wrong <> sign in there) and my husband has G542X. In the chromosone database they have available to check what the severity of those 2 mutations having a child will be like they cannot find much information or any about my husbands mutation. It is disconcerting to me as I know that alot of people can get an idea of what the severity of the CF would be in their unborn child. I'm going on Nov. 30 for more counseling and a possible CVS. The results take 3-4 weeks which seems like forever.
 

denise25

New member
Thank you ladies for all your insight I truly appreciate it. I guess I happen to have really good Dr's. I have no one in my family with CF or anyone that knows of being a carrier. Sounds familiar i'm sure. The mutation I have is 2789+G<A ( I may have the wrong <> sign in there) and my husband has G542X. In the chromosone database they have available to check what the severity of those 2 mutations having a child will be like they cannot find much information or any about my husbands mutation. It is disconcerting to me as I know that alot of people can get an idea of what the severity of the CF would be in their unborn child. I'm going on Nov. 30 for more counseling and a possible CVS. The results take 3-4 weeks which seems like forever.
 

denise25

New member
Thank you ladies for all your insight I truly appreciate it. I guess I happen to have really good Dr's. I have no one in my family with CF or anyone that knows of being a carrier. Sounds familiar i'm sure. The mutation I have is 2789+G<A ( I may have the wrong <> sign in there) and my husband has G542X. In the chromosone database they have available to check what the severity of those 2 mutations having a child will be like they cannot find much information or any about my husbands mutation. It is disconcerting to me as I know that alot of people can get an idea of what the severity of the CF would be in their unborn child. I'm going on Nov. 30 for more counseling and a possible CVS. The results take 3-4 weeks which seems like forever.
 

denise25

New member
Thank you ladies for all your insight I truly appreciate it. I guess I happen to have really good Dr's. I have no one in my family with CF or anyone that knows of being a carrier. Sounds familiar i'm sure. The mutation I have is 2789+G<A ( I may have the wrong <> sign in there) and my husband has G542X. In the chromosone database they have available to check what the severity of those 2 mutations having a child will be like they cannot find much information or any about my husbands mutation. It is disconcerting to me as I know that alot of people can get an idea of what the severity of the CF would be in their unborn child. I'm going on Nov. 30 for more counseling and a possible CVS. The results take 3-4 weeks which seems like forever.
 

denise25

New member
Thank you ladies for all your insight I truly appreciate it. I guess I happen to have really good Dr's. I have no one in my family with CF or anyone that knows of being a carrier. Sounds familiar i'm sure. The mutation I have is 2789+G<A ( I may have the wrong <> sign in there) and my husband has G542X. In the chromosone database they have available to check what the severity of those 2 mutations having a child will be like they cannot find much information or any about my husbands mutation. It is disconcerting to me as I know that alot of people can get an idea of what the severity of the CF would be in their unborn child. I'm going on Nov. 30 for more counseling and a possible CVS. The results take 3-4 weeks which seems like forever.
 

LouLou

New member
denise, here is a site you might find useful. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>Your husband's mutation if I'm reading your message correctly that he has G542X is not rare. In fact I believe it is the 2nd most common mutation. It is a class 1 mutation. Yours I'm not seeing much on. There is no clear cut information about clinical outcome for mutation pairing becuase mutations alone do not dictate outcome. Enviro, diet, compliance, modifier genes, etc. come into play. They are doing studies on twins to learn more about this large unknown territory of cf. What you can do is look at each mutation seperately regarding their clinical outcome results. The person generally presents more characteristically of their milder mutation. I hope this makes sense.

So when in your pregnancy did they find your mutation? Did you write an intro post somewhere? I'm curious to hear more about why they ran all the tests ....maybe it's part of IUI with sperm washing?? but then wouldn't they have found your carrier status before you got prego? I'm guessing they found your mutation as part of your first blood workup which would make sense if you had your husbands mut but I didn't think they would find 2789+G>A in a general screening like that. I'm not buying that its just that you have "really good Dr's." Could it be that you have the mutations reversed?
 

LouLou

New member
denise, here is a site you might find useful. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>Your husband's mutation if I'm reading your message correctly that he has G542X is not rare. In fact I believe it is the 2nd most common mutation. It is a class 1 mutation. Yours I'm not seeing much on. There is no clear cut information about clinical outcome for mutation pairing becuase mutations alone do not dictate outcome. Enviro, diet, compliance, modifier genes, etc. come into play. They are doing studies on twins to learn more about this large unknown territory of cf. What you can do is look at each mutation seperately regarding their clinical outcome results. The person generally presents more characteristically of their milder mutation. I hope this makes sense.

So when in your pregnancy did they find your mutation? Did you write an intro post somewhere? I'm curious to hear more about why they ran all the tests ....maybe it's part of IUI with sperm washing?? but then wouldn't they have found your carrier status before you got prego? I'm guessing they found your mutation as part of your first blood workup which would make sense if you had your husbands mut but I didn't think they would find 2789+G>A in a general screening like that. I'm not buying that its just that you have "really good Dr's." Could it be that you have the mutations reversed?
 

LouLou

New member
denise, here is a site you might find useful. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>Your husband's mutation if I'm reading your message correctly that he has G542X is not rare. In fact I believe it is the 2nd most common mutation. It is a class 1 mutation. Yours I'm not seeing much on. There is no clear cut information about clinical outcome for mutation pairing becuase mutations alone do not dictate outcome. Enviro, diet, compliance, modifier genes, etc. come into play. They are doing studies on twins to learn more about this large unknown territory of cf. What you can do is look at each mutation seperately regarding their clinical outcome results. The person generally presents more characteristically of their milder mutation. I hope this makes sense.

So when in your pregnancy did they find your mutation? Did you write an intro post somewhere? I'm curious to hear more about why they ran all the tests ....maybe it's part of IUI with sperm washing?? but then wouldn't they have found your carrier status before you got prego? I'm guessing they found your mutation as part of your first blood workup which would make sense if you had your husbands mut but I didn't think they would find 2789+G>A in a general screening like that. I'm not buying that its just that you have "really good Dr's." Could it be that you have the mutations reversed?
 

LouLou

New member
denise, here is a site you might find useful. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>Your husband's mutation if I'm reading your message correctly that he has G542X is not rare. In fact I believe it is the 2nd most common mutation. It is a class 1 mutation. Yours I'm not seeing much on. There is no clear cut information about clinical outcome for mutation pairing becuase mutations alone do not dictate outcome. Enviro, diet, compliance, modifier genes, etc. come into play. They are doing studies on twins to learn more about this large unknown territory of cf. What you can do is look at each mutation seperately regarding their clinical outcome results. The person generally presents more characteristically of their milder mutation. I hope this makes sense.

So when in your pregnancy did they find your mutation? Did you write an intro post somewhere? I'm curious to hear more about why they ran all the tests ....maybe it's part of IUI with sperm washing?? but then wouldn't they have found your carrier status before you got prego? I'm guessing they found your mutation as part of your first blood workup which would make sense if you had your husbands mut but I didn't think they would find 2789+G>A in a general screening like that. I'm not buying that its just that you have "really good Dr's." Could it be that you have the mutations reversed?
 

LouLou

New member
denise, here is a site you might find useful. <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/app
">http://www.genet.sickkids.on.ca/cftr/app
</a>Your husband's mutation if I'm reading your message correctly that he has G542X is not rare. In fact I believe it is the 2nd most common mutation. It is a class 1 mutation. Yours I'm not seeing much on. There is no clear cut information about clinical outcome for mutation pairing becuase mutations alone do not dictate outcome. Enviro, diet, compliance, modifier genes, etc. come into play. They are doing studies on twins to learn more about this large unknown territory of cf. What you can do is look at each mutation seperately regarding their clinical outcome results. The person generally presents more characteristically of their milder mutation. I hope this makes sense.

So when in your pregnancy did they find your mutation? Did you write an intro post somewhere? I'm curious to hear more about why they ran all the tests ....maybe it's part of IUI with sperm washing?? but then wouldn't they have found your carrier status before you got prego? I'm guessing they found your mutation as part of your first blood workup which would make sense if you had your husbands mut but I didn't think they would find 2789+G>A in a general screening like that. I'm not buying that its just that you have "really good Dr's." Could it be that you have the mutations reversed?
 

denise25

New member
Lou Lou I found out 2 years ago about this when I was having trouble getting pregnant. I really don't know why they tested for it but they did. I have no history of any genetic defects in my family just a fertility issue. I must have mixed up who had the rare mutation being me not my husband. According to the genetic counselor there are 23 mutation that are tested and the one I have is one of them as they didn't do any special or additional testing for me nor my husband. I noticed yesterday after I researched it that his mutation is a severe mutation if I was reading correctly. This whole thing is very overwhelming. The genetic counselor said that they search a database of people who have CF mutations and what the outcome of their child was mild moderate severe etc. It was a year ago I had this counseling and I will go back again in a few weeks for a CVS to see if my baby has CF. Part of me doesn't want to believe its true and thinks there could have been a mess up at the lab the day I went. It was so packed and the people there were just crazy and all over the place. But at the end of the day it is so rare for that to happen I just have to accept this. Thanks for the website I appreciate all the knowledge on this forum.
 

denise25

New member
Lou Lou I found out 2 years ago about this when I was having trouble getting pregnant. I really don't know why they tested for it but they did. I have no history of any genetic defects in my family just a fertility issue. I must have mixed up who had the rare mutation being me not my husband. According to the genetic counselor there are 23 mutation that are tested and the one I have is one of them as they didn't do any special or additional testing for me nor my husband. I noticed yesterday after I researched it that his mutation is a severe mutation if I was reading correctly. This whole thing is very overwhelming. The genetic counselor said that they search a database of people who have CF mutations and what the outcome of their child was mild moderate severe etc. It was a year ago I had this counseling and I will go back again in a few weeks for a CVS to see if my baby has CF. Part of me doesn't want to believe its true and thinks there could have been a mess up at the lab the day I went. It was so packed and the people there were just crazy and all over the place. But at the end of the day it is so rare for that to happen I just have to accept this. Thanks for the website I appreciate all the knowledge on this forum.
 

denise25

New member
Lou Lou I found out 2 years ago about this when I was having trouble getting pregnant. I really don't know why they tested for it but they did. I have no history of any genetic defects in my family just a fertility issue. I must have mixed up who had the rare mutation being me not my husband. According to the genetic counselor there are 23 mutation that are tested and the one I have is one of them as they didn't do any special or additional testing for me nor my husband. I noticed yesterday after I researched it that his mutation is a severe mutation if I was reading correctly. This whole thing is very overwhelming. The genetic counselor said that they search a database of people who have CF mutations and what the outcome of their child was mild moderate severe etc. It was a year ago I had this counseling and I will go back again in a few weeks for a CVS to see if my baby has CF. Part of me doesn't want to believe its true and thinks there could have been a mess up at the lab the day I went. It was so packed and the people there were just crazy and all over the place. But at the end of the day it is so rare for that to happen I just have to accept this. Thanks for the website I appreciate all the knowledge on this forum.
 

denise25

New member
Lou Lou I found out 2 years ago about this when I was having trouble getting pregnant. I really don't know why they tested for it but they did. I have no history of any genetic defects in my family just a fertility issue. I must have mixed up who had the rare mutation being me not my husband. According to the genetic counselor there are 23 mutation that are tested and the one I have is one of them as they didn't do any special or additional testing for me nor my husband. I noticed yesterday after I researched it that his mutation is a severe mutation if I was reading correctly. This whole thing is very overwhelming. The genetic counselor said that they search a database of people who have CF mutations and what the outcome of their child was mild moderate severe etc. It was a year ago I had this counseling and I will go back again in a few weeks for a CVS to see if my baby has CF. Part of me doesn't want to believe its true and thinks there could have been a mess up at the lab the day I went. It was so packed and the people there were just crazy and all over the place. But at the end of the day it is so rare for that to happen I just have to accept this. Thanks for the website I appreciate all the knowledge on this forum.
 

denise25

New member
Lou Lou I found out 2 years ago about this when I was having trouble getting pregnant. I really don't know why they tested for it but they did. I have no history of any genetic defects in my family just a fertility issue. I must have mixed up who had the rare mutation being me not my husband. According to the genetic counselor there are 23 mutation that are tested and the one I have is one of them as they didn't do any special or additional testing for me nor my husband. I noticed yesterday after I researched it that his mutation is a severe mutation if I was reading correctly. This whole thing is very overwhelming. The genetic counselor said that they search a database of people who have CF mutations and what the outcome of their child was mild moderate severe etc. It was a year ago I had this counseling and I will go back again in a few weeks for a CVS to see if my baby has CF. Part of me doesn't want to believe its true and thinks there could have been a mess up at the lab the day I went. It was so packed and the people there were just crazy and all over the place. But at the end of the day it is so rare for that to happen I just have to accept this. Thanks for the website I appreciate all the knowledge on this forum.
 
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