Question about Ambry Testing?

SARAHSARAH253 · Jul 18, 2009

Hi there,

Well, I'm now 26 weeks pregnant with our second child...It's a girl! As I posted before we decided not to do any testing on the baby until after she is delivered. We are watching her tummy through high level monthly ultrasounds though, and she will be born at a hospital with a level III NICU...Our son was born with MI, and spent the first 40 days of his life there fighting.

My son just had CF Clinic this past week. At that visit I asked the doctor to draw up a paper for me to have for the hospital when I have my baby. I wanted some kind of form or instructions for the hospital staff to take the cord blood and ship it off toAmbry. So Ambry could test the specific mutations our son has. I have heard they can use the cord blood to do that. My sons CF Doc said he would rather us wait and see what the states newborn screening comes back and if it's flagged then we can order a sweat test then the specific mutation ambry testing. I really...REALLY...Want badly just to cut out the rollercoaster ride and send of the babys blood at birth. Wait for a result and know YES or NO....and know for sure right away.

My question is can I have my OBYGN order the Ambry testing or do I have to do the wait and see approach and then use the CF Team.

Thanks So much,

Sarah

Mommy to Johnny w/cf...Who is going to be 2 next month! Pregnant with a baby girl due in Oct....

SARAHSARAH253 · Jul 18, 2009

Hi there,

Well, I'm now 26 weeks pregnant with our second child...It's a girl! As I posted before we decided not to do any testing on the baby until after she is delivered. We are watching her tummy through high level monthly ultrasounds though, and she will be born at a hospital with a level III NICU...Our son was born with MI, and spent the first 40 days of his life there fighting.

My son just had CF Clinic this past week. At that visit I asked the doctor to draw up a paper for me to have for the hospital when I have my baby. I wanted some kind of form or instructions for the hospital staff to take the cord blood and ship it off toAmbry. So Ambry could test the specific mutations our son has. I have heard they can use the cord blood to do that. My sons CF Doc said he would rather us wait and see what the states newborn screening comes back and if it's flagged then we can order a sweat test then the specific mutation ambry testing. I really...REALLY...Want badly just to cut out the rollercoaster ride and send of the babys blood at birth. Wait for a result and know YES or NO....and know for sure right away.

My question is can I have my OBYGN order the Ambry testing or do I have to do the wait and see approach and then use the CF Team.

Thanks So much,

Sarah

Mommy to Johnny w/cf...Who is going to be 2 next month! Pregnant with a baby girl due in Oct....

SARAHSARAH253 · Jul 18, 2009

Hi there,

Well, I'm now 26 weeks pregnant with our second child...It's a girl! As I posted before we decided not to do any testing on the baby until after she is delivered. We are watching her tummy through high level monthly ultrasounds though, and she will be born at a hospital with a level III NICU...Our son was born with MI, and spent the first 40 days of his life there fighting.

My son just had CF Clinic this past week. At that visit I asked the doctor to draw up a paper for me to have for the hospital when I have my baby. I wanted some kind of form or instructions for the hospital staff to take the cord blood and ship it off toAmbry. So Ambry could test the specific mutations our son has. I have heard they can use the cord blood to do that. My sons CF Doc said he would rather us wait and see what the states newborn screening comes back and if it's flagged then we can order a sweat test then the specific mutation ambry testing. I really...REALLY...Want badly just to cut out the rollercoaster ride and send of the babys blood at birth. Wait for a result and know YES or NO....and know for sure right away.

My question is can I have my OBYGN order the Ambry testing or do I have to do the wait and see approach and then use the CF Team.

Thanks So much,

Sarah

Mommy to Johnny w/cf...Who is going to be 2 next month! Pregnant with a baby girl due in Oct....

SARAHSARAH253 · Jul 18, 2009

Hi there,

Well, I'm now 26 weeks pregnant with our second child...It's a girl! As I posted before we decided not to do any testing on the baby until after she is delivered. We are watching her tummy through high level monthly ultrasounds though, and she will be born at a hospital with a level III NICU...Our son was born with MI, and spent the first 40 days of his life there fighting.

My son just had CF Clinic this past week. At that visit I asked the doctor to draw up a paper for me to have for the hospital when I have my baby. I wanted some kind of form or instructions for the hospital staff to take the cord blood and ship it off toAmbry. So Ambry could test the specific mutations our son has. I have heard they can use the cord blood to do that. My sons CF Doc said he would rather us wait and see what the states newborn screening comes back and if it's flagged then we can order a sweat test then the specific mutation ambry testing. I really...REALLY...Want badly just to cut out the rollercoaster ride and send of the babys blood at birth. Wait for a result and know YES or NO....and know for sure right away.

My question is can I have my OBYGN order the Ambry testing or do I have to do the wait and see approach and then use the CF Team.

Thanks So much,

Sarah

Mommy to Johnny w/cf...Who is going to be 2 next month! Pregnant with a baby girl due in Oct....

SARAHSARAH253 · Jul 18, 2009

Hi there,
 
 Well, I'm now 26 weeks pregnant with our second child...It's a girl! As I posted before we decided not to do any testing on the baby until after she is delivered. We are watching her tummy through high level monthly ultrasounds though, and she will be born at a hospital with a level III NICU...Our son was born with MI, and spent the first 40 days of his life there fighting.
 
 My son just had CF Clinic this past week. At that visit I asked the doctor to draw up a paper for me to have for the hospital when I have my baby. I wanted some kind of form or instructions for the hospital staff to take the cord blood and ship it off toAmbry. So Ambry could test the specific mutations our son has. I have heard they can use the cord blood to do that. My sons CF Doc said he would rather us wait and see what the states newborn screening comes back and if it's flagged then we can order a sweat test then the specific mutation ambry testing. I really...REALLY...Want badly just to cut out the rollercoaster ride and send of the babys blood at birth. Wait for a result and know YES or NO....and know for sure right away.
 
 My question is can I have my OBYGN order the Ambry testing or do I have to do the wait and see approach and then use the CF Team.
 
 
 Thanks So much,
 
 
 Sarah
 
 Mommy to Johnny w/cf...Who is going to be 2 next month! Pregnant with a baby girl due in Oct....

sdelorenzo · Jul 18, 2009

Congratulations on baby #2!!! No, you don't have to wait and see, it is your choice! Get the test arranged without involving the CF dr. He is not being sensitive to what you need. You will most likely know within a week I would think by looking for any symptoms. The first thing I did after my son was born in January was to look at his hands to see if the were really wrinkled from being in the amniotic fluid - they weren't. Then I kissed his forehead a bunch the first day - no hint of salt like my other two had. He gained weight as expected, and was just a very happy easy baby. Very happy, easy baby was a big clue. My first two weren't. We also looked for signs of meconium while I was pregnant since my son was born with the blockage. The perinatal dr was very encouraging by 39 weeks when I had my last ultrasound. He said the meconium looked like what he would expect a baby without to cf to have. So that was great to hear. Actually the pediatrician was the one who took care of the genetic testing for me when my son was born a few months ago. They are the baby's doctor in the hospital, so they are the ones that order tests for the baby. They took some (I was told just a little) blood from the baby. I would start by calling ambry to ask them to proceed. Most likely your pediatrician will have no idea how to order the right test. My neighbors son as cf. When she had her last baby she had the cord blood tested for double delta like her first son. The genetics dept had a hard time distinguishing between the babies dna and her dna in the cord blood. So after a month, they called her and asked her to bring the baby in to take more blood. So it took 6 more weeks after that. She got the baby to take a sweat test at that point. no cf! My older two have double delta, so you think it would piece of cake to get the test ordered, but it wasn't. His pediatrician was easy to work with in getting the orders. It was just getting the right orders that was so hard. I kept getting calls from the nurses at the hospital asking what I wanted done. I finally asked to see the paperwork. They were about to request for a poly 7 allele or something like that. Totally wrong. It still took 6 weeks to come back - a carrier!! After a month I was having a hard time waiting so I took my son in for a sweat test. It came back as 13, 14, so I was very relieved. Both of my other kids had sweat tests as newborn. They also were able to sweat enough on the sweat test even though you hear sometimes babies can't get a good reading on the sweat test.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 months no cf

sdelorenzo · Jul 18, 2009

Congratulations on baby #2!!! No, you don't have to wait and see, it is your choice! Get the test arranged without involving the CF dr. He is not being sensitive to what you need. You will most likely know within a week I would think by looking for any symptoms. The first thing I did after my son was born in January was to look at his hands to see if the were really wrinkled from being in the amniotic fluid - they weren't. Then I kissed his forehead a bunch the first day - no hint of salt like my other two had. He gained weight as expected, and was just a very happy easy baby. Very happy, easy baby was a big clue. My first two weren't. We also looked for signs of meconium while I was pregnant since my son was born with the blockage. The perinatal dr was very encouraging by 39 weeks when I had my last ultrasound. He said the meconium looked like what he would expect a baby without to cf to have. So that was great to hear. Actually the pediatrician was the one who took care of the genetic testing for me when my son was born a few months ago. They are the baby's doctor in the hospital, so they are the ones that order tests for the baby. They took some (I was told just a little) blood from the baby. I would start by calling ambry to ask them to proceed. Most likely your pediatrician will have no idea how to order the right test. My neighbors son as cf. When she had her last baby she had the cord blood tested for double delta like her first son. The genetics dept had a hard time distinguishing between the babies dna and her dna in the cord blood. So after a month, they called her and asked her to bring the baby in to take more blood. So it took 6 more weeks after that. She got the baby to take a sweat test at that point. no cf! My older two have double delta, so you think it would piece of cake to get the test ordered, but it wasn't. His pediatrician was easy to work with in getting the orders. It was just getting the right orders that was so hard. I kept getting calls from the nurses at the hospital asking what I wanted done. I finally asked to see the paperwork. They were about to request for a poly 7 allele or something like that. Totally wrong. It still took 6 weeks to come back - a carrier!! After a month I was having a hard time waiting so I took my son in for a sweat test. It came back as 13, 14, so I was very relieved. Both of my other kids had sweat tests as newborn. They also were able to sweat enough on the sweat test even though you hear sometimes babies can't get a good reading on the sweat test.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 months no cf

sdelorenzo · Jul 18, 2009

Congratulations on baby #2!!! No, you don't have to wait and see, it is your choice! Get the test arranged without involving the CF dr. He is not being sensitive to what you need. You will most likely know within a week I would think by looking for any symptoms. The first thing I did after my son was born in January was to look at his hands to see if the were really wrinkled from being in the amniotic fluid - they weren't. Then I kissed his forehead a bunch the first day - no hint of salt like my other two had. He gained weight as expected, and was just a very happy easy baby. Very happy, easy baby was a big clue. My first two weren't. We also looked for signs of meconium while I was pregnant since my son was born with the blockage. The perinatal dr was very encouraging by 39 weeks when I had my last ultrasound. He said the meconium looked like what he would expect a baby without to cf to have. So that was great to hear. Actually the pediatrician was the one who took care of the genetic testing for me when my son was born a few months ago. They are the baby's doctor in the hospital, so they are the ones that order tests for the baby. They took some (I was told just a little) blood from the baby. I would start by calling ambry to ask them to proceed. Most likely your pediatrician will have no idea how to order the right test. My neighbors son as cf. When she had her last baby she had the cord blood tested for double delta like her first son. The genetics dept had a hard time distinguishing between the babies dna and her dna in the cord blood. So after a month, they called her and asked her to bring the baby in to take more blood. So it took 6 more weeks after that. She got the baby to take a sweat test at that point. no cf! My older two have double delta, so you think it would piece of cake to get the test ordered, but it wasn't. His pediatrician was easy to work with in getting the orders. It was just getting the right orders that was so hard. I kept getting calls from the nurses at the hospital asking what I wanted done. I finally asked to see the paperwork. They were about to request for a poly 7 allele or something like that. Totally wrong. It still took 6 weeks to come back - a carrier!! After a month I was having a hard time waiting so I took my son in for a sweat test. It came back as 13, 14, so I was very relieved. Both of my other kids had sweat tests as newborn. They also were able to sweat enough on the sweat test even though you hear sometimes babies can't get a good reading on the sweat test.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 months no cf

sdelorenzo · Jul 18, 2009

Congratulations on baby #2!!! No, you don't have to wait and see, it is your choice! Get the test arranged without involving the CF dr. He is not being sensitive to what you need. You will most likely know within a week I would think by looking for any symptoms. The first thing I did after my son was born in January was to look at his hands to see if the were really wrinkled from being in the amniotic fluid - they weren't. Then I kissed his forehead a bunch the first day - no hint of salt like my other two had. He gained weight as expected, and was just a very happy easy baby. Very happy, easy baby was a big clue. My first two weren't. We also looked for signs of meconium while I was pregnant since my son was born with the blockage. The perinatal dr was very encouraging by 39 weeks when I had my last ultrasound. He said the meconium looked like what he would expect a baby without to cf to have. So that was great to hear. Actually the pediatrician was the one who took care of the genetic testing for me when my son was born a few months ago. They are the baby's doctor in the hospital, so they are the ones that order tests for the baby. They took some (I was told just a little) blood from the baby. I would start by calling ambry to ask them to proceed. Most likely your pediatrician will have no idea how to order the right test. My neighbors son as cf. When she had her last baby she had the cord blood tested for double delta like her first son. The genetics dept had a hard time distinguishing between the babies dna and her dna in the cord blood. So after a month, they called her and asked her to bring the baby in to take more blood. So it took 6 more weeks after that. She got the baby to take a sweat test at that point. no cf! My older two have double delta, so you think it would piece of cake to get the test ordered, but it wasn't. His pediatrician was easy to work with in getting the orders. It was just getting the right orders that was so hard. I kept getting calls from the nurses at the hospital asking what I wanted done. I finally asked to see the paperwork. They were about to request for a poly 7 allele or something like that. Totally wrong. It still took 6 weeks to come back - a carrier!! After a month I was having a hard time waiting so I took my son in for a sweat test. It came back as 13, 14, so I was very relieved. Both of my other kids had sweat tests as newborn. They also were able to sweat enough on the sweat test even though you hear sometimes babies can't get a good reading on the sweat test.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 months no cf

sdelorenzo · Jul 18, 2009

Congratulations on baby #2!!! No, you don't have to wait and see, it is your choice! Get the test arranged without involving the CF dr. He is not being sensitive to what you need. You will most likely know within a week I would think by looking for any symptoms. The first thing I did after my son was born in January was to look at his hands to see if the were really wrinkled from being in the amniotic fluid - they weren't. Then I kissed his forehead a bunch the first day - no hint of salt like my other two had. He gained weight as expected, and was just a very happy easy baby. Very happy, easy baby was a big clue. My first two weren't. We also looked for signs of meconium while I was pregnant since my son was born with the blockage. The perinatal dr was very encouraging by 39 weeks when I had my last ultrasound. He said the meconium looked like what he would expect a baby without to cf to have. So that was great to hear. Actually the pediatrician was the one who took care of the genetic testing for me when my son was born a few months ago. They are the baby's doctor in the hospital, so they are the ones that order tests for the baby. They took some (I was told just a little) blood from the baby. I would start by calling ambry to ask them to proceed. Most likely your pediatrician will have no idea how to order the right test. My neighbors son as cf. When she had her last baby she had the cord blood tested for double delta like her first son. The genetics dept had a hard time distinguishing between the babies dna and her dna in the cord blood. So after a month, they called her and asked her to bring the baby in to take more blood. So it took 6 more weeks after that. She got the baby to take a sweat test at that point. no cf! My older two have double delta, so you think it would piece of cake to get the test ordered, but it wasn't. His pediatrician was easy to work with in getting the orders. It was just getting the right orders that was so hard. I kept getting calls from the nurses at the hospital asking what I wanted done. I finally asked to see the paperwork. They were about to request for a poly 7 allele or something like that. Totally wrong. It still took 6 weeks to come back - a carrier!! After a month I was having a hard time waiting so I took my son in for a sweat test. It came back as 13, 14, so I was very relieved. Both of my other kids had sweat tests as newborn. They also were able to sweat enough on the sweat test even though you hear sometimes babies can't get a good reading on the sweat test.
 Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 months no cf

just1more · Jul 18, 2009

I would have to agree with Sharon.

If have had a child w/CF previously and are pregnant again with a 25% possiblity the child has CF; there is no reason to wait for the screening. If you have to push a Dr, point out that being a carrier can trip the state screening and your daughter has a 75% of at least being a carrier so the state screening is likely going to be positive regardless of if she has CF. So why wait?

They should be able to draw the labs and order the genetic test. FYI, since you know the 2 mutations; it is not as complicated to confirm yes/no and you should have an answer fairly quickly. The pediatrician would order the test, just discuss with them beforehand and you shouldn't have any issues.

just1more · Jul 18, 2009

I would have to agree with Sharon.

If have had a child w/CF previously and are pregnant again with a 25% possiblity the child has CF; there is no reason to wait for the screening. If you have to push a Dr, point out that being a carrier can trip the state screening and your daughter has a 75% of at least being a carrier so the state screening is likely going to be positive regardless of if she has CF. So why wait?

They should be able to draw the labs and order the genetic test. FYI, since you know the 2 mutations; it is not as complicated to confirm yes/no and you should have an answer fairly quickly. The pediatrician would order the test, just discuss with them beforehand and you shouldn't have any issues.

just1more · Jul 18, 2009

I would have to agree with Sharon.

If have had a child w/CF previously and are pregnant again with a 25% possiblity the child has CF; there is no reason to wait for the screening. If you have to push a Dr, point out that being a carrier can trip the state screening and your daughter has a 75% of at least being a carrier so the state screening is likely going to be positive regardless of if she has CF. So why wait?

They should be able to draw the labs and order the genetic test. FYI, since you know the 2 mutations; it is not as complicated to confirm yes/no and you should have an answer fairly quickly. The pediatrician would order the test, just discuss with them beforehand and you shouldn't have any issues.

just1more · Jul 18, 2009

I would have to agree with Sharon.

If have had a child w/CF previously and are pregnant again with a 25% possiblity the child has CF; there is no reason to wait for the screening. If you have to push a Dr, point out that being a carrier can trip the state screening and your daughter has a 75% of at least being a carrier so the state screening is likely going to be positive regardless of if she has CF. So why wait?

They should be able to draw the labs and order the genetic test. FYI, since you know the 2 mutations; it is not as complicated to confirm yes/no and you should have an answer fairly quickly. The pediatrician would order the test, just discuss with them beforehand and you shouldn't have any issues.

just1more · Jul 18, 2009

I would have to agree with Sharon.
 
 If have had a child w/CF previously and are pregnant again with a 25% possiblity the child has CF; there is no reason to wait for the screening. If you have to push a Dr, point out that being a carrier can trip the state screening and your daughter has a 75% of at least being a carrier so the state screening is likely going to be positive regardless of if she has CF. So why wait?
 
 They should be able to draw the labs and order the genetic test. FYI, since you know the 2 mutations; it is not as complicated to confirm yes/no and you should have an answer fairly quickly. The pediatrician would order the test, just discuss with them beforehand and you shouldn't have any issues.

LouLou · Jul 18, 2009