CF testing after birth

R

rubyroselee

New member
Hi,

Forgot this one detail about my OB appt. I asked her if I could have the baby tested for CF after it was born. I want to just have that feeling of reassurance after the baby is born, even though the donor was negative for the top 80-some mutations. There's always still a chance (like in Lauren's case). DW seems to think we don't need to do testing until the baby shows symptoms. I just don't want to have to worry about looking for symptoms and just know right away that he's CF-free. Anyhow, OB walked over to Genetics and asked them about testing the baby for CF. She came back and said they do some sort of test that starts with a "T" (she couldn't remember the name) and then if that's positive they will do further screening. Anyone know what that test could possibly be? I was so mad that she didn't get the test name. I surely hope she wasn't meaning a sweat test because that means nothing to me (especially if baby will have an a-typical mutation). So frustrating.
 
R

rubyroselee

New member
Hi,

Forgot this one detail about my OB appt. I asked her if I could have the baby tested for CF after it was born. I want to just have that feeling of reassurance after the baby is born, even though the donor was negative for the top 80-some mutations. There's always still a chance (like in Lauren's case). DW seems to think we don't need to do testing until the baby shows symptoms. I just don't want to have to worry about looking for symptoms and just know right away that he's CF-free. Anyhow, OB walked over to Genetics and asked them about testing the baby for CF. She came back and said they do some sort of test that starts with a "T" (she couldn't remember the name) and then if that's positive they will do further screening. Anyone know what that test could possibly be? I was so mad that she didn't get the test name. I surely hope she wasn't meaning a sweat test because that means nothing to me (especially if baby will have an a-typical mutation). So frustrating.
 
R

rubyroselee

New member
Hi,

Forgot this one detail about my OB appt. I asked her if I could have the baby tested for CF after it was born. I want to just have that feeling of reassurance after the baby is born, even though the donor was negative for the top 80-some mutations. There's always still a chance (like in Lauren's case). DW seems to think we don't need to do testing until the baby shows symptoms. I just don't want to have to worry about looking for symptoms and just know right away that he's CF-free. Anyhow, OB walked over to Genetics and asked them about testing the baby for CF. She came back and said they do some sort of test that starts with a "T" (she couldn't remember the name) and then if that's positive they will do further screening. Anyone know what that test could possibly be? I was so mad that she didn't get the test name. I surely hope she wasn't meaning a sweat test because that means nothing to me (especially if baby will have an a-typical mutation). So frustrating.
 
R

rubyroselee

New member
Hi,

Forgot this one detail about my OB appt. I asked her if I could have the baby tested for CF after it was born. I want to just have that feeling of reassurance after the baby is born, even though the donor was negative for the top 80-some mutations. There's always still a chance (like in Lauren's case). DW seems to think we don't need to do testing until the baby shows symptoms. I just don't want to have to worry about looking for symptoms and just know right away that he's CF-free. Anyhow, OB walked over to Genetics and asked them about testing the baby for CF. She came back and said they do some sort of test that starts with a "T" (she couldn't remember the name) and then if that's positive they will do further screening. Anyone know what that test could possibly be? I was so mad that she didn't get the test name. I surely hope she wasn't meaning a sweat test because that means nothing to me (especially if baby will have an a-typical mutation). So frustrating.
 
R

rubyroselee

New member
Hi,
<br />
<br />Forgot this one detail about my OB appt. I asked her if I could have the baby tested for CF after it was born. I want to just have that feeling of reassurance after the baby is born, even though the donor was negative for the top 80-some mutations. There's always still a chance (like in Lauren's case). DW seems to think we don't need to do testing until the baby shows symptoms. I just don't want to have to worry about looking for symptoms and just know right away that he's CF-free. Anyhow, OB walked over to Genetics and asked them about testing the baby for CF. She came back and said they do some sort of test that starts with a "T" (she couldn't remember the name) and then if that's positive they will do further screening. Anyone know what that test could possibly be? I was so mad that she didn't get the test name. I surely hope she wasn't meaning a sweat test because that means nothing to me (especially if baby will have an a-typical mutation). So frustrating.
 
P

PLUCKY

New member
I am not sure what the "t" means in my state they test for cf at birth now as well. I think they check for them to be a carrier and if they are they do further testing but I could be way off base my new kid has got me drousy.
 
P

PLUCKY

New member
I am not sure what the "t" means in my state they test for cf at birth now as well. I think they check for them to be a carrier and if they are they do further testing but I could be way off base my new kid has got me drousy.
 
P

PLUCKY

New member
I am not sure what the "t" means in my state they test for cf at birth now as well. I think they check for them to be a carrier and if they are they do further testing but I could be way off base my new kid has got me drousy.
 
P

PLUCKY

New member
I am not sure what the "t" means in my state they test for cf at birth now as well. I think they check for them to be a carrier and if they are they do further testing but I could be way off base my new kid has got me drousy.
 
P

PLUCKY

New member
I am not sure what the "t" means in my state they test for cf at birth now as well. I think they check for them to be a carrier and if they are they do further testing but I could be way off base my new kid has got me drousy.
 
T

tara

New member
I wonder if the OB was referring to some type of blood test, like newborn screening? Do you know if your state has CF newborn screening? If so, maybe you can find out how many mutations they test for (I'm assuming it's not a lot, not like an Ambry full panel for sure) So my point is, if you're looking for an a-typical mutation it's possible newborn screening and a sweat test won't help you. You might have to pay for an Ambry full panel if you really want to go that extra mile.

FWIW I asked Steve from Ambry the same question. I explained my DH was tested for the common genes and came up negative. I explained the twins show no symptoms and DH comes from British decent. I asked if we should pay for the full panel and he said no.
 
T

tara

New member
I wonder if the OB was referring to some type of blood test, like newborn screening? Do you know if your state has CF newborn screening? If so, maybe you can find out how many mutations they test for (I'm assuming it's not a lot, not like an Ambry full panel for sure) So my point is, if you're looking for an a-typical mutation it's possible newborn screening and a sweat test won't help you. You might have to pay for an Ambry full panel if you really want to go that extra mile.

FWIW I asked Steve from Ambry the same question. I explained my DH was tested for the common genes and came up negative. I explained the twins show no symptoms and DH comes from British decent. I asked if we should pay for the full panel and he said no.
 
T

tara

New member
I wonder if the OB was referring to some type of blood test, like newborn screening? Do you know if your state has CF newborn screening? If so, maybe you can find out how many mutations they test for (I'm assuming it's not a lot, not like an Ambry full panel for sure) So my point is, if you're looking for an a-typical mutation it's possible newborn screening and a sweat test won't help you. You might have to pay for an Ambry full panel if you really want to go that extra mile.

FWIW I asked Steve from Ambry the same question. I explained my DH was tested for the common genes and came up negative. I explained the twins show no symptoms and DH comes from British decent. I asked if we should pay for the full panel and he said no.
 
T

tara

New member
I wonder if the OB was referring to some type of blood test, like newborn screening? Do you know if your state has CF newborn screening? If so, maybe you can find out how many mutations they test for (I'm assuming it's not a lot, not like an Ambry full panel for sure) So my point is, if you're looking for an a-typical mutation it's possible newborn screening and a sweat test won't help you. You might have to pay for an Ambry full panel if you really want to go that extra mile.

FWIW I asked Steve from Ambry the same question. I explained my DH was tested for the common genes and came up negative. I explained the twins show no symptoms and DH comes from British decent. I asked if we should pay for the full panel and he said no.
 
T

tara

New member
I wonder if the OB was referring to some type of blood test, like newborn screening? Do you know if your state has CF newborn screening? If so, maybe you can find out how many mutations they test for (I'm assuming it's not a lot, not like an Ambry full panel for sure) So my point is, if you're looking for an a-typical mutation it's possible newborn screening and a sweat test won't help you. You might have to pay for an Ambry full panel if you really want to go that extra mile.
<br />
<br />FWIW I asked Steve from Ambry the same question. I explained my DH was tested for the common genes and came up negative. I explained the twins show no symptoms and DH comes from British decent. I asked if we should pay for the full panel and he said no.
 
K

Keepercjr

Guest
Leah

If you aren't comfortable w/ your donor only being negative for the top 80 mutations then your only option will probably be the full Ambry sequencing. It is expensive though (ours cost us $450 cash and that was 4 years ago). If I were in your shoes I don't think I would worry about it. I agree with your DW to just take a wait and see approach.

Tara newborn screening doesn't actually test for mutations (initially). It tests for trypsinogen (the "T" that her OB mentioned) which is supposed to be higher in infants w/ CF. After a newborn tests positive, then they test the blood sample again for 27 different mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.uwcfcenter.org/newborn/
">http://www.uwcfcenter.org/newborn/
</a>
So it looks like newborn screening won't help in Leah's case because her donor would be negative for those 27 mutations and her baby will already have one of her mutations. Maybe if baby has an elevated level of trypsinogen it will lead them to do the Ambry test.

When I had DS they didn't screen for CF yet in California so I have no idea if he would have had elevated levels or not.
 
K

Keepercjr

Guest
Leah

If you aren't comfortable w/ your donor only being negative for the top 80 mutations then your only option will probably be the full Ambry sequencing. It is expensive though (ours cost us $450 cash and that was 4 years ago). If I were in your shoes I don't think I would worry about it. I agree with your DW to just take a wait and see approach.

Tara newborn screening doesn't actually test for mutations (initially). It tests for trypsinogen (the "T" that her OB mentioned) which is supposed to be higher in infants w/ CF. After a newborn tests positive, then they test the blood sample again for 27 different mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.uwcfcenter.org/newborn/
">http://www.uwcfcenter.org/newborn/
</a>
So it looks like newborn screening won't help in Leah's case because her donor would be negative for those 27 mutations and her baby will already have one of her mutations. Maybe if baby has an elevated level of trypsinogen it will lead them to do the Ambry test.

When I had DS they didn't screen for CF yet in California so I have no idea if he would have had elevated levels or not.
 
K

Keepercjr

Guest
Leah

If you aren't comfortable w/ your donor only being negative for the top 80 mutations then your only option will probably be the full Ambry sequencing. It is expensive though (ours cost us $450 cash and that was 4 years ago). If I were in your shoes I don't think I would worry about it. I agree with your DW to just take a wait and see approach.

Tara newborn screening doesn't actually test for mutations (initially). It tests for trypsinogen (the "T" that her OB mentioned) which is supposed to be higher in infants w/ CF. After a newborn tests positive, then they test the blood sample again for 27 different mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.uwcfcenter.org/newborn/
">http://www.uwcfcenter.org/newborn/
</a>
So it looks like newborn screening won't help in Leah's case because her donor would be negative for those 27 mutations and her baby will already have one of her mutations. Maybe if baby has an elevated level of trypsinogen it will lead them to do the Ambry test.

When I had DS they didn't screen for CF yet in California so I have no idea if he would have had elevated levels or not.
 
K

Keepercjr

Guest
Leah

If you aren't comfortable w/ your donor only being negative for the top 80 mutations then your only option will probably be the full Ambry sequencing. It is expensive though (ours cost us $450 cash and that was 4 years ago). If I were in your shoes I don't think I would worry about it. I agree with your DW to just take a wait and see approach.

Tara newborn screening doesn't actually test for mutations (initially). It tests for trypsinogen (the "T" that her OB mentioned) which is supposed to be higher in infants w/ CF. After a newborn tests positive, then they test the blood sample again for 27 different mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.uwcfcenter.org/newborn/
">http://www.uwcfcenter.org/newborn/
</a>
So it looks like newborn screening won't help in Leah's case because her donor would be negative for those 27 mutations and her baby will already have one of her mutations. Maybe if baby has an elevated level of trypsinogen it will lead them to do the Ambry test.

When I had DS they didn't screen for CF yet in California so I have no idea if he would have had elevated levels or not.
 
K

Keepercjr

Guest
Leah
<br />
<br />If you aren't comfortable w/ your donor only being negative for the top 80 mutations then your only option will probably be the full Ambry sequencing. It is expensive though (ours cost us $450 cash and that was 4 years ago). If I were in your shoes I don't think I would worry about it. I agree with your DW to just take a wait and see approach.
<br />
<br />Tara newborn screening doesn't actually test for mutations (initially). It tests for trypsinogen (the "T" that her OB mentioned) which is supposed to be higher in infants w/ CF. After a newborn tests positive, then they test the blood sample again for 27 different mutations.
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.uwcfcenter.org/newborn/
">http://www.uwcfcenter.org/newborn/
</a><br />
<br />So it looks like newborn screening won't help in Leah's case because her donor would be negative for those 27 mutations and her baby will already have one of her mutations. Maybe if baby has an elevated level of trypsinogen it will lead them to do the Ambry test.
<br />
<br />When I had DS they didn't screen for CF yet in California so I have no idea if he would have had elevated levels or not.
 
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