Looking for some Info for a friend

M

MCGrad2006

Guest
So my mom called me the other day and we started talking. She was telling me about someone she knows who is pregnant. This young lady had a blood test done (she is still early in the pregnancy) and was found to be a carrier for CF. She called my mom because she knows about me. They told this woman NOTHING...just that she is a carrier and her husband needs to be tested.

So I started to tell my mom about how some of you have had similar issues. The doctors want this woman's husband tested. I was not really sure how to go about this, but I want to make sure this woman's husband has the full testing done, not just the basic. My mom was completely unaware that there were different tests. And I am looking for some information for her to show her doctors...or something. I am worried that they would only test the basic genes.

Does this make sense? Is there a website explaining the difference between tests? If there is can someone post it here?

Thanks guys, I know you will be of help!
 
M

MCGrad2006

Guest
So my mom called me the other day and we started talking. She was telling me about someone she knows who is pregnant. This young lady had a blood test done (she is still early in the pregnancy) and was found to be a carrier for CF. She called my mom because she knows about me. They told this woman NOTHING...just that she is a carrier and her husband needs to be tested.

So I started to tell my mom about how some of you have had similar issues. The doctors want this woman's husband tested. I was not really sure how to go about this, but I want to make sure this woman's husband has the full testing done, not just the basic. My mom was completely unaware that there were different tests. And I am looking for some information for her to show her doctors...or something. I am worried that they would only test the basic genes.

Does this make sense? Is there a website explaining the difference between tests? If there is can someone post it here?

Thanks guys, I know you will be of help!
 
M

MCGrad2006

Guest
So my mom called me the other day and we started talking. She was telling me about someone she knows who is pregnant. This young lady had a blood test done (she is still early in the pregnancy) and was found to be a carrier for CF. She called my mom because she knows about me. They told this woman NOTHING...just that she is a carrier and her husband needs to be tested.
<br />
<br />So I started to tell my mom about how some of you have had similar issues. The doctors want this woman's husband tested. I was not really sure how to go about this, but I want to make sure this woman's husband has the full testing done, not just the basic. My mom was completely unaware that there were different tests. And I am looking for some information for her to show her doctors...or something. I am worried that they would only test the basic genes.
<br />
<br />Does this make sense? Is there a website explaining the difference between tests? If there is can someone post it here?
<br />
<br />Thanks guys, I know you will be of help!
 
J

JORDYSMOM

New member
Usually when a person is pregnant, they only do a screening. They test for the 30 most common genes, so it's likely that your Mom's friend carries one of those. Their ins. company will likely pay for a screening on her husband, but they may not cover the full panel test. If he carries a more rare gene, it might be missed. The problem is the cost if ins. won't cover it.

Depending on what state they're in, there will likely be a newborn screening done on the baby when it's born. Those also vary on whether it's just a screening or if they actually test for genes. You might have her look into what her state does do, and call her ins. company to see what they will cover.

She can also go directly to Ambry Genetics web site for more information. We have a link here, in the families section.

Stacey
 
J

JORDYSMOM

New member
Usually when a person is pregnant, they only do a screening. They test for the 30 most common genes, so it's likely that your Mom's friend carries one of those. Their ins. company will likely pay for a screening on her husband, but they may not cover the full panel test. If he carries a more rare gene, it might be missed. The problem is the cost if ins. won't cover it.

Depending on what state they're in, there will likely be a newborn screening done on the baby when it's born. Those also vary on whether it's just a screening or if they actually test for genes. You might have her look into what her state does do, and call her ins. company to see what they will cover.

She can also go directly to Ambry Genetics web site for more information. We have a link here, in the families section.

Stacey
 
J

JORDYSMOM

New member
Usually when a person is pregnant, they only do a screening. They test for the 30 most common genes, so it's likely that your Mom's friend carries one of those. Their ins. company will likely pay for a screening on her husband, but they may not cover the full panel test. If he carries a more rare gene, it might be missed. The problem is the cost if ins. won't cover it.
<br />
<br />Depending on what state they're in, there will likely be a newborn screening done on the baby when it's born. Those also vary on whether it's just a screening or if they actually test for genes. You might have her look into what her state does do, and call her ins. company to see what they will cover.
<br />
<br />She can also go directly to Ambry Genetics web site for more information. We have a link here, in the families section.
<br />
<br />Stacey
 
M

MCGrad2006

Guest
Thank you Stacey! I figured they would probably do a full test seeing that she has the one gene, but I wanted to be able to give her a place to go for the information so that she can fight for the full testing. I will tell my mom Ambry's website has a lot of info.
 
M

MCGrad2006

Guest
Thank you Stacey! I figured they would probably do a full test seeing that she has the one gene, but I wanted to be able to give her a place to go for the information so that she can fight for the full testing. I will tell my mom Ambry's website has a lot of info.
 
M

MCGrad2006

Guest
Thank you Stacey! I figured they would probably do a full test seeing that she has the one gene, but I wanted to be able to give her a place to go for the information so that she can fight for the full testing. I will tell my mom Ambry's website has a lot of info.
 
H

hmw

New member
If someone is contemplating pregnancy and one of the parents is a KNOWN carrier, than it's important the other prospective parent get full genetic sequencing to determine with the greatest degree of certainty whether or not he/she's a carrier. That way they can make the most informed choice possible before planning their family.

In this situation, the mom is already pregnant, so the decision needs to be made whether to do the testing on the father or wait and test the baby. If the family plans to have more than one child, it may make more sense to do full genetic sequencing on the father. If it turns out he's a carrier as well, their children will only need to be tested for the two mutations the parents carry.

I agree that the Ambry website is a great starting point, and they can help with getting insurance approval as well. If you go to the Family forum here and post on the Ambry thread, Steve might be able to offer some advice as well.
 
H

hmw

New member
If someone is contemplating pregnancy and one of the parents is a KNOWN carrier, than it's important the other prospective parent get full genetic sequencing to determine with the greatest degree of certainty whether or not he/she's a carrier. That way they can make the most informed choice possible before planning their family.

In this situation, the mom is already pregnant, so the decision needs to be made whether to do the testing on the father or wait and test the baby. If the family plans to have more than one child, it may make more sense to do full genetic sequencing on the father. If it turns out he's a carrier as well, their children will only need to be tested for the two mutations the parents carry.

I agree that the Ambry website is a great starting point, and they can help with getting insurance approval as well. If you go to the Family forum here and post on the Ambry thread, Steve might be able to offer some advice as well.
 
H

hmw

New member
If someone is contemplating pregnancy and one of the parents is a KNOWN carrier, than it's important the other prospective parent get full genetic sequencing to determine with the greatest degree of certainty whether or not he/she's a carrier. That way they can make the most informed choice possible before planning their family.
<br />
<br />In this situation, the mom is already pregnant, so the decision needs to be made whether to do the testing on the father or wait and test the baby. If the family plans to have more than one child, it may make more sense to do full genetic sequencing on the father. If it turns out he's a carrier as well, their children will only need to be tested for the two mutations the parents carry.
<br />
<br />I agree that the Ambry website is a great starting point, and they can help with getting insurance approval as well. If you go to the Family forum here and post on the Ambry thread, Steve might be able to offer some advice as well.
 
Y

yoda111603

New member
my biggest ? on the hole thing is, docs want u to do the test just so u know if they baby will have cf or not before u cant abort the baby anymore. so my thing is if the baby having cf isnt gonna stop from having the baby then y go thru all them test, they can get to be alot of money... just wait and do the tests on the baby when he/she is born...
 
Y

yoda111603

New member
my biggest ? on the hole thing is, docs want u to do the test just so u know if they baby will have cf or not before u cant abort the baby anymore. so my thing is if the baby having cf isnt gonna stop from having the baby then y go thru all them test, they can get to be alot of money... just wait and do the tests on the baby when he/she is born...
 
Y

yoda111603

New member
my biggest ? on the hole thing is, docs want u to do the test just so u know if they baby will have cf or not before u cant abort the baby anymore. so my thing is if the baby having cf isnt gonna stop from having the baby then y go thru all them test, they can get to be alot of money... just wait and do the tests on the baby when he/she is born...
 
H

hmw

New member
Well, the only issue with waiting and testing the baby after birth rather than the husband is if that baby doesn't have cf, it still doesn't answer whether or not the father is a carrier. If the father is tested, they will know with a pretty high degree of certainty what testing would be needed for all children they choose to have, rather than having all the testing on the first baby, hopefully finding no CF, but then having a 2nd baby and potentially having to go through the whole thing again since the father was never ruled out as a carrier. Parents that know they are carriers can still choose to wait until their child is born before testing him/her for their mutations.
 
H

hmw

New member
Well, the only issue with waiting and testing the baby after birth rather than the husband is if that baby doesn't have cf, it still doesn't answer whether or not the father is a carrier. If the father is tested, they will know with a pretty high degree of certainty what testing would be needed for all children they choose to have, rather than having all the testing on the first baby, hopefully finding no CF, but then having a 2nd baby and potentially having to go through the whole thing again since the father was never ruled out as a carrier. Parents that know they are carriers can still choose to wait until their child is born before testing him/her for their mutations.
 
H

hmw

New member
Well, the only issue with waiting and testing the baby after birth rather than the husband is if that baby doesn't have cf, it still doesn't answer whether or not the father is a carrier. If the father is tested, they will know with a pretty high degree of certainty what testing would be needed for all children they choose to have, rather than having all the testing on the first baby, hopefully finding no CF, but then having a 2nd baby and potentially having to go through the whole thing again since the father was never ruled out as a carrier. Parents that know they are carriers can still choose to wait until their child is born before testing him/her for their mutations.
 
Y

yoda111603

New member
i was never tested when my wife got preg for my son cuz the docs told us that it is pointless if it wasnt gonna change our mind on having or not having the child. when my son was born in ny it is law they do cf tests aways and thats just the blood test that they draw from the foot that they have to draw anyways for other tests.
 
Y

yoda111603

New member
i was never tested when my wife got preg for my son cuz the docs told us that it is pointless if it wasnt gonna change our mind on having or not having the child. when my son was born in ny it is law they do cf tests aways and thats just the blood test that they draw from the foot that they have to draw anyways for other tests.
 
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