Pregnant daughter just diagnosed as carrier

[ScarletDove]

My 17 yr old daughter who is 12 weeks pregnant just received the call from her OB that she is a CF carrier and that the father to be needs to get in and be tested. No one on either her father's or my side has CF or knew of being a carrier. We are all so confused and scared for the baby right now. The OB didn't explain anything or even tell us where the father can go to be tested. They do not have insurance so we don't even know if any of us can afford the test. Any advice or help would be greatly appreciated. Thank you in advance!

 

[ScarletDove]

My 17 yr old daughter who is 12 weeks pregnant just received the call from her OB that she is a CF carrier and that the father to be needs to get in and be tested. No one on either her father's or my side has CF or knew of being a carrier. We are all so confused and scared for the baby right now. The OB didn't explain anything or even tell us where the father can go to be tested. They do not have insurance so we don't even know if any of us can afford the test. Any advice or help would be greatly appreciated. Thank you in advance!

 

[ScarletDove]

My 17 yr old daughter who is 12 weeks pregnant just received the call from her OB that she is a CF carrier and that the father to be needs to get in and be tested. No one on either her father's or my side has CF or knew of being a carrier. We are all so confused and scared for the baby right now. The OB didn't explain anything or even tell us where the father can go to be tested. They do not have insurance so we don't even know if any of us can afford the test. Any advice or help would be greatly appreciated. Thank you in advance!

 

[martysmom]

So sorry about the news. I agree that he does need to be tested but depending on what state you live in they will also test the baby at birth. I would first make sure that your state includes CF in the newborn screening. He can get a prescription and get the test done at many different labs. There are over 1700 discovered mutations and some tests are more comprehensive than others. Labcorb has a test that tests for 32 or 70 mutations. That test will pick up a majority of carriers. Then there is ambry genetics and quest. They do an amplified panel and can pick up like 99% of discovered mutations. I called about the price for my son. It costs about 1600 dollars without insurance. The labcorp one should be cheaper. Quest also does a smaller test. The quest test the blood can be drawn at any quest lab and same with labcorp. Ambry test there is a kit and the blood sample needs to be mailed. So sorry about the news. I hope you guys are able to get answers fast! If you have any questions please feel free to message me at any time.

 

[martysmom]

So sorry about the news. I agree that he does need to be tested but depending on what state you live in they will also test the baby at birth. I would first make sure that your state includes CF in the newborn screening. He can get a prescription and get the test done at many different labs. There are over 1700 discovered mutations and some tests are more comprehensive than others. Labcorb has a test that tests for 32 or 70 mutations. That test will pick up a majority of carriers. Then there is ambry genetics and quest. They do an amplified panel and can pick up like 99% of discovered mutations. I called about the price for my son. It costs about 1600 dollars without insurance. The labcorp one should be cheaper. Quest also does a smaller test. The quest test the blood can be drawn at any quest lab and same with labcorp. Ambry test there is a kit and the blood sample needs to be mailed. So sorry about the news. I hope you guys are able to get answers fast! If you have any questions please feel free to message me at any time.

 

[martysmom]

So sorry about the news. I agree that he does need to be tested but depending on what state you live in they will also test the baby at birth. I would first make sure that your state includes CF in the newborn screening. He can get a prescription and get the test done at many different labs. There are over 1700 discovered mutations and some tests are more comprehensive than others. Labcorb has a test that tests for 32 or 70 mutations. That test will pick up a majority of carriers. Then there is ambry genetics and quest. They do an amplified panel and can pick up like 99% of discovered mutations. I called about the price for my son. It costs about 1600 dollars without insurance. The labcorp one should be cheaper. Quest also does a smaller test. The quest test the blood can be drawn at any quest lab and same with labcorp. Ambry test there is a kit and the blood sample needs to be mailed. So sorry about the news. I hope you guys are able to get answers fast! If you have any questions please feel free to message me at any time.

 

[2005CFmom]

The brief description of the genetics of CF, is the CF is a recessive disease. Assuming that both the mother and father are CF carriers, there is a 25% chance that a child they conceive would have CF. (There is a 50% chance the child would be a carrier, and a 25% chance the child would not have CF, nor be a carrier).

About getting the father tested, I agree with the above poster. There really is no need to get the father tested, unless she is considering termination of pregnancy if the baby has CF.

 

[2005CFmom]

The brief description of the genetics of CF, is the CF is a recessive disease. Assuming that both the mother and father are CF carriers, there is a 25% chance that a child they conceive would have CF. (There is a 50% chance the child would be a carrier, and a 25% chance the child would not have CF, nor be a carrier).

About getting the father tested, I agree with the above poster. There really is no need to get the father tested, unless she is considering termination of pregnancy if the baby has CF.

 

[2005CFmom]

The brief description of the genetics of CF, is the CF is a recessive disease. Assuming that both the mother and father are CF carriers, there is a 25% chance that a child they conceive would have CF. (There is a 50% chance the child would be a carrier, and a 25% chance the child would not have CF, nor be a carrier).
<br />
<br />About getting the father tested, I agree with the above poster. There really is no need to get the father tested, unless she is considering termination of pregnancy if the baby has CF.

 

[ScarletDove]

Thank you to both of you. We are still trying to wrap our minds around all the information everyone is emailing us. If we can wait until the baby is born then that is what we will do as termination is not even a thought. Several family members have offered to help with financing the test if it is absolutely needed right now but I hate asking unless it makes a difference in how they handle the pregnancy and delivery or if something special needs done for the baby before it is born. I am going to have my daughter join this site so maybe she can find people to talk to that can reassure her. Thanks again!

 

[ScarletDove]

Thank you to both of you. We are still trying to wrap our minds around all the information everyone is emailing us. If we can wait until the baby is born then that is what we will do as termination is not even a thought. Several family members have offered to help with financing the test if it is absolutely needed right now but I hate asking unless it makes a difference in how they handle the pregnancy and delivery or if something special needs done for the baby before it is born. I am going to have my daughter join this site so maybe she can find people to talk to that can reassure her. Thanks again!

 

[ScarletDove]

Thank you to both of you. We are still trying to wrap our minds around all the information everyone is emailing us. If we can wait until the baby is born then that is what we will do as termination is not even a thought. Several family members have offered to help with financing the test if it is absolutely needed right now but I hate asking unless it makes a difference in how they handle the pregnancy and delivery or if something special needs done for the baby before it is born. I am going to have my daughter join this site so maybe she can find people to talk to that can reassure her. Thanks again!

 

[Mommafirst]

One in every 20 americans are carriers of CF, so its not a huge deal. Only one in every 400 couples are both carriers. Since there are soooo many mutations of CF, it is probably a waste to have the father tested. It would make more sense to either have the baby tested genetically in utero, or to wait until the baby is born.

It would probably be a good idea to familiarize yourself with the basic symptoms of CF, just in case the newborn screen misses it. It would also be important that her OB keeps this in mind, as some babies with CF have bowel obstructions in utero that can cause problems. This is something that can be monitored via ultrasound and should be waatched on this baby.

I hope that you get some answers and that your future grandbaby does not have CF.

 

[Mommafirst]

One in every 20 americans are carriers of CF, so its not a huge deal. Only one in every 400 couples are both carriers. Since there are soooo many mutations of CF, it is probably a waste to have the father tested. It would make more sense to either have the baby tested genetically in utero, or to wait until the baby is born.

It would probably be a good idea to familiarize yourself with the basic symptoms of CF, just in case the newborn screen misses it. It would also be important that her OB keeps this in mind, as some babies with CF have bowel obstructions in utero that can cause problems. This is something that can be monitored via ultrasound and should be waatched on this baby.

I hope that you get some answers and that your future grandbaby does not have CF.

 

[Mommafirst]

One in every 20 americans are carriers of CF, so its not a huge deal. Only one in every 400 couples are both carriers. Since there are soooo many mutations of CF, it is probably a waste to have the father tested. It would make more sense to either have the baby tested genetically in utero, or to wait until the baby is born.
<br />
<br />It would probably be a good idea to familiarize yourself with the basic symptoms of CF, just in case the newborn screen misses it. It would also be important that her OB keeps this in mind, as some babies with CF have bowel obstructions in utero that can cause problems. This is something that can be monitored via ultrasound and should be waatched on this baby.
<br />
<br />I hope that you get some answers and that your future grandbaby does not have CF.

 

[candi81]

I can understand how scared you all are. I was in the same boat about 2 years ago. I was told while I was pregnant that I was a carrier for CF. Like you, I knew of no one on either side of the family with CF, and to be honest, didn't know anything about the disease. My OB arranged for my husband to be tested also. They done the simple test that only tested for the most common mutations, and we were told that my husband was NOT a carrier. The chances of him carrying one of the other more rare mutations was less than 1%. So we went the rest of the pregnancy thinking everything was ok. Sure enough, after my son was born, his newborn screening came back abnormal for CF, and he DOES have it. We done a repeat genetic test on my husband, myself, and my son. This time we used the Ambry CF Amplified, which tests for all known mutations. Sure enough, my husband was a carrier of a very rare mutation, and passed it on to my son (along with my gene.) To this day, we've never seen anyone else with my husbands mutation.

So, just because you don't have a family history doesn't make you safe. And, I'd prefer to get the Ambry CF Amplified test if you could afford it. Is a state card an option?

 

[candi81]

I can understand how scared you all are. I was in the same boat about 2 years ago. I was told while I was pregnant that I was a carrier for CF. Like you, I knew of no one on either side of the family with CF, and to be honest, didn't know anything about the disease. My OB arranged for my husband to be tested also. They done the simple test that only tested for the most common mutations, and we were told that my husband was NOT a carrier. The chances of him carrying one of the other more rare mutations was less than 1%. So we went the rest of the pregnancy thinking everything was ok. Sure enough, after my son was born, his newborn screening came back abnormal for CF, and he DOES have it. We done a repeat genetic test on my husband, myself, and my son. This time we used the Ambry CF Amplified, which tests for all known mutations. Sure enough, my husband was a carrier of a very rare mutation, and passed it on to my son (along with my gene.) To this day, we've never seen anyone else with my husbands mutation.

So, just because you don't have a family history doesn't make you safe. And, I'd prefer to get the Ambry CF Amplified test if you could afford it. Is a state card an option?

 

[candi81]

I can understand how scared you all are. I was in the same boat about 2 years ago. I was told while I was pregnant that I was a carrier for CF. Like you, I knew of no one on either side of the family with CF, and to be honest, didn't know anything about the disease. My OB arranged for my husband to be tested also. They done the simple test that only tested for the most common mutations, and we were told that my husband was NOT a carrier. The chances of him carrying one of the other more rare mutations was less than 1%. So we went the rest of the pregnancy thinking everything was ok. Sure enough, after my son was born, his newborn screening came back abnormal for CF, and he DOES have it. We done a repeat genetic test on my husband, myself, and my son. This time we used the Ambry CF Amplified, which tests for all known mutations. Sure enough, my husband was a carrier of a very rare mutation, and passed it on to my son (along with my gene.) To this day, we've never seen anyone else with my husbands mutation.
<br />
<br />So, just because you don't have a family history doesn't make you safe. And, I'd prefer to get the Ambry CF Amplified test if you could afford it. Is a state card an option?