AP article : Testing curbs some genetic diseases

J

janddburke

New member
to paraphrase the article from the Associated Press

...Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion....

what is 'the severest form of cystic fibrosis?'
 
J

janddburke

New member
to paraphrase the article from the Associated Press

...Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion....

what is 'the severest form of cystic fibrosis?'
 
J

janddburke

New member
to paraphrase the article from the Associated Press

...Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion....

what is 'the severest form of cystic fibrosis?'
 
J

janddburke

New member
to paraphrase the article from the Associated Press

...Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion....

what is 'the severest form of cystic fibrosis?'
 
J

janddburke

New member
to paraphrase the article from the Associated Press
<br />
<br />...Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion....
<br />
<br />what is 'the severest form of cystic fibrosis?'
 
J

janddburke

New member
and again in the Wall Street Journal on 2/14

Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma.

is this true? if so, it's news to me. where do they get this stuff?
 
J

janddburke

New member
and again in the Wall Street Journal on 2/14

Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma.

is this true? if so, it's news to me. where do they get this stuff?
 
J

janddburke

New member
and again in the Wall Street Journal on 2/14

Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma.

is this true? if so, it's news to me. where do they get this stuff?
 
J

janddburke

New member
and again in the Wall Street Journal on 2/14

Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma.

is this true? if so, it's news to me. where do they get this stuff?
 
J

janddburke

New member
and again in the Wall Street Journal on 2/14
<br />
<br />Carriers for cystic fibrosis are at increased risk of getting chronic sinus disease or a severe form of asthma.
<br />
<br />is this true? if so, it's news to me. where do they get this stuff?
 
H

hmw

New member
Our cf clinic tells us that carriers can be 'symptomatic.' That really goes against everything that 'should' be true about being a carrier in general for <i>any</i> autosomal recessive disease; it should not be possible for a carrier to be symptomatic; but many drs apparently feel this way based on what I've seen here. It is hard to find published literature supporting this, though (I've looked in the past; most says otherwise.)

You'll get a lot of controversial answers over what is the severest form of CF (been a lot of that lately over atypical cf, etc etc.) However, my guess would be that if parents are screened and found to carry the df508 mutation that would be the most likely cause of either not choosing to get pregnant in the first place or if that choice is made, to terminate the pregnancy.

It's only my opinion, but I think that would be the one most likely discovered- it's by far the most common and if the cf panel is routine (vs. one done when it's a real concern (i.e. family hx or concerning u/s findings, etc) they only look for a few mutations and that particular one is considered 'severe', resulting in classic disease. However, we certainly know here that mutation is not the only determining factor when it comes to disease severity and many are associated with 'severe' disease.
 
H

hmw

New member
Our cf clinic tells us that carriers can be 'symptomatic.' That really goes against everything that 'should' be true about being a carrier in general for <i>any</i> autosomal recessive disease; it should not be possible for a carrier to be symptomatic; but many drs apparently feel this way based on what I've seen here. It is hard to find published literature supporting this, though (I've looked in the past; most says otherwise.)

You'll get a lot of controversial answers over what is the severest form of CF (been a lot of that lately over atypical cf, etc etc.) However, my guess would be that if parents are screened and found to carry the df508 mutation that would be the most likely cause of either not choosing to get pregnant in the first place or if that choice is made, to terminate the pregnancy.

It's only my opinion, but I think that would be the one most likely discovered- it's by far the most common and if the cf panel is routine (vs. one done when it's a real concern (i.e. family hx or concerning u/s findings, etc) they only look for a few mutations and that particular one is considered 'severe', resulting in classic disease. However, we certainly know here that mutation is not the only determining factor when it comes to disease severity and many are associated with 'severe' disease.
 
H

hmw

New member
Our cf clinic tells us that carriers can be 'symptomatic.' That really goes against everything that 'should' be true about being a carrier in general for <i>any</i> autosomal recessive disease; it should not be possible for a carrier to be symptomatic; but many drs apparently feel this way based on what I've seen here. It is hard to find published literature supporting this, though (I've looked in the past; most says otherwise.)

You'll get a lot of controversial answers over what is the severest form of CF (been a lot of that lately over atypical cf, etc etc.) However, my guess would be that if parents are screened and found to carry the df508 mutation that would be the most likely cause of either not choosing to get pregnant in the first place or if that choice is made, to terminate the pregnancy.

It's only my opinion, but I think that would be the one most likely discovered- it's by far the most common and if the cf panel is routine (vs. one done when it's a real concern (i.e. family hx or concerning u/s findings, etc) they only look for a few mutations and that particular one is considered 'severe', resulting in classic disease. However, we certainly know here that mutation is not the only determining factor when it comes to disease severity and many are associated with 'severe' disease.
 
H

hmw

New member
Our cf clinic tells us that carriers can be 'symptomatic.' That really goes against everything that 'should' be true about being a carrier in general for <i>any</i> autosomal recessive disease; it should not be possible for a carrier to be symptomatic; but many drs apparently feel this way based on what I've seen here. It is hard to find published literature supporting this, though (I've looked in the past; most says otherwise.)

You'll get a lot of controversial answers over what is the severest form of CF (been a lot of that lately over atypical cf, etc etc.) However, my guess would be that if parents are screened and found to carry the df508 mutation that would be the most likely cause of either not choosing to get pregnant in the first place or if that choice is made, to terminate the pregnancy.

It's only my opinion, but I think that would be the one most likely discovered- it's by far the most common and if the cf panel is routine (vs. one done when it's a real concern (i.e. family hx or concerning u/s findings, etc) they only look for a few mutations and that particular one is considered 'severe', resulting in classic disease. However, we certainly know here that mutation is not the only determining factor when it comes to disease severity and many are associated with 'severe' disease.
 
H

hmw

New member
Our cf clinic tells us that carriers can be 'symptomatic.' That really goes against everything that 'should' be true about being a carrier in general for <i>any</i> autosomal recessive disease; it should not be possible for a carrier to be symptomatic; but many drs apparently feel this way based on what I've seen here. It is hard to find published literature supporting this, though (I've looked in the past; most says otherwise.)
<br />
<br />You'll get a lot of controversial answers over what is the severest form of CF (been a lot of that lately over atypical cf, etc etc.) However, my guess would be that if parents are screened and found to carry the df508 mutation that would be the most likely cause of either not choosing to get pregnant in the first place or if that choice is made, to terminate the pregnancy.
<br />
<br />It's only my opinion, but I think that would be the one most likely discovered- it's by far the most common and if the cf panel is routine (vs. one done when it's a real concern (i.e. family hx or concerning u/s findings, etc) they only look for a few mutations and that particular one is considered 'severe', resulting in classic disease. However, we certainly know here that mutation is not the only determining factor when it comes to disease severity and many are associated with 'severe' disease.
 
J

JORDYSMOM

New member
I am guessing that they are considering the DDF508 to be the most "severe form of CF". I belive that most prenatal screenings only check for the first 45 or so genes?? Most likely it is these pregnancies that are being aborted.

Re: your second post. First let me say that I do not have health insurance, so I have not been tested for CF, but I absolutely am a symptomatic carrier at the very least. I have always had chronic sinus issues, and I was dx with asthma many years ago. Both of these issues have gotten progressivly worse for me over the years. Not to mention the IBS symptoms.

I think that a lot of carriers may one day be dx as we find new genes. I also think that more people are being dx, in part, because of sites like this. Just look at the number of parents who come here looking for answers, and who then push their docs to do testing that they were being denied. If not for the education available on the internet today, a lot of these children wouldn't be dx until much later in life when their symptoms simply can't be ignored or explained as other ailments any longer. My son was 15 before he was dx. I did not have access to the information we have today. If I had, I'd have pushed until I got the answers.

I'm not sure if much of that made sense. I'm working, and have had to answer the phone a couple of times while posting. Anyway, I think that we are seeing "carriers" who may have another undiscovered gene out there who's symptoms progress, as CF does, and that gives them the "increased risk" you are reading about. Just my 2 cents.

Stacey
 
J

JORDYSMOM

New member
I am guessing that they are considering the DDF508 to be the most "severe form of CF". I belive that most prenatal screenings only check for the first 45 or so genes?? Most likely it is these pregnancies that are being aborted.

Re: your second post. First let me say that I do not have health insurance, so I have not been tested for CF, but I absolutely am a symptomatic carrier at the very least. I have always had chronic sinus issues, and I was dx with asthma many years ago. Both of these issues have gotten progressivly worse for me over the years. Not to mention the IBS symptoms.

I think that a lot of carriers may one day be dx as we find new genes. I also think that more people are being dx, in part, because of sites like this. Just look at the number of parents who come here looking for answers, and who then push their docs to do testing that they were being denied. If not for the education available on the internet today, a lot of these children wouldn't be dx until much later in life when their symptoms simply can't be ignored or explained as other ailments any longer. My son was 15 before he was dx. I did not have access to the information we have today. If I had, I'd have pushed until I got the answers.

I'm not sure if much of that made sense. I'm working, and have had to answer the phone a couple of times while posting. Anyway, I think that we are seeing "carriers" who may have another undiscovered gene out there who's symptoms progress, as CF does, and that gives them the "increased risk" you are reading about. Just my 2 cents.

Stacey
 
J

JORDYSMOM

New member
I am guessing that they are considering the DDF508 to be the most "severe form of CF". I belive that most prenatal screenings only check for the first 45 or so genes?? Most likely it is these pregnancies that are being aborted.

Re: your second post. First let me say that I do not have health insurance, so I have not been tested for CF, but I absolutely am a symptomatic carrier at the very least. I have always had chronic sinus issues, and I was dx with asthma many years ago. Both of these issues have gotten progressivly worse for me over the years. Not to mention the IBS symptoms.

I think that a lot of carriers may one day be dx as we find new genes. I also think that more people are being dx, in part, because of sites like this. Just look at the number of parents who come here looking for answers, and who then push their docs to do testing that they were being denied. If not for the education available on the internet today, a lot of these children wouldn't be dx until much later in life when their symptoms simply can't be ignored or explained as other ailments any longer. My son was 15 before he was dx. I did not have access to the information we have today. If I had, I'd have pushed until I got the answers.

I'm not sure if much of that made sense. I'm working, and have had to answer the phone a couple of times while posting. Anyway, I think that we are seeing "carriers" who may have another undiscovered gene out there who's symptoms progress, as CF does, and that gives them the "increased risk" you are reading about. Just my 2 cents.

Stacey
 
J

JORDYSMOM

New member
I am guessing that they are considering the DDF508 to be the most "severe form of CF". I belive that most prenatal screenings only check for the first 45 or so genes?? Most likely it is these pregnancies that are being aborted.

Re: your second post. First let me say that I do not have health insurance, so I have not been tested for CF, but I absolutely am a symptomatic carrier at the very least. I have always had chronic sinus issues, and I was dx with asthma many years ago. Both of these issues have gotten progressivly worse for me over the years. Not to mention the IBS symptoms.

I think that a lot of carriers may one day be dx as we find new genes. I also think that more people are being dx, in part, because of sites like this. Just look at the number of parents who come here looking for answers, and who then push their docs to do testing that they were being denied. If not for the education available on the internet today, a lot of these children wouldn't be dx until much later in life when their symptoms simply can't be ignored or explained as other ailments any longer. My son was 15 before he was dx. I did not have access to the information we have today. If I had, I'd have pushed until I got the answers.

I'm not sure if much of that made sense. I'm working, and have had to answer the phone a couple of times while posting. Anyway, I think that we are seeing "carriers" who may have another undiscovered gene out there who's symptoms progress, as CF does, and that gives them the "increased risk" you are reading about. Just my 2 cents.

Stacey
 
J

JORDYSMOM

New member
I am guessing that they are considering the DDF508 to be the most "severe form of CF". I belive that most prenatal screenings only check for the first 45 or so genes?? Most likely it is these pregnancies that are being aborted.
<br />
<br />Re: your second post. First let me say that I do not have health insurance, so I have not been tested for CF, but I absolutely am a symptomatic carrier at the very least. I have always had chronic sinus issues, and I was dx with asthma many years ago. Both of these issues have gotten progressivly worse for me over the years. Not to mention the IBS symptoms.
<br />
<br />I think that a lot of carriers may one day be dx as we find new genes. I also think that more people are being dx, in part, because of sites like this. Just look at the number of parents who come here looking for answers, and who then push their docs to do testing that they were being denied. If not for the education available on the internet today, a lot of these children wouldn't be dx until much later in life when their symptoms simply can't be ignored or explained as other ailments any longer. My son was 15 before he was dx. I did not have access to the information we have today. If I had, I'd have pushed until I got the answers.
<br />
<br />I'm not sure if much of that made sense. I'm working, and have had to answer the phone a couple of times while posting. Anyway, I think that we are seeing "carriers" who may have another undiscovered gene out there who's symptoms progress, as CF does, and that gives them the "increased risk" you are reading about. Just my 2 cents.
<br />
<br />Stacey
 
You must log in or register to reply here.
Top