Genetic Testing

okayestmom12

I had an appointment with a nurse at my OB office this morning to do all the preadmitting paper work, some blood work, and gather family history and she brought up genetic testing.  More specifically - the NT scan for Downs and the Cystic Fibrosis blood work. I thought it was interesting that even though there is zero history of CF or Downs in our family, there is always a risk. 

 

Is this something you will be taking advantage of?  I will be doing both since I called our insurance and both are fully covered. 

epphd

Something like 1:25 people is a carrier for CF, so screening is now routine.  If you test positive for being a carrier, then your spouse will be tested.  As for the NT - there's a thread down below about it, and most people do opt for it.

 

rowanleaves

I opted out

 We will not terminate anyways, and we will deal with it if we come to it. Otherwise, I'm really ok with not doing it.

mrsmikey

I will have any and all testing done available to me.  IMO, it's not just about terminating or not.  Some things can be treated in-utero, or you might want to deliver at a different hospital if your baby has a certain condition.  If nothing else just to be prepared.  I would not want to find out my child had some kind of disease or life threatening condition on his birthday if I can avoid it.  But it's a personal thing.  I am just very pro-testing.  I could go on and on and jump on my soapbox but I'll leave it at that.

You might want to talk to your OB about it too.  My nurse was very uninformative and pretty much just gave me some papers, but my OB discussed it with me in detail and made me feel much more strongly about it.

camedowncrushing

We are doing both.  We also went for genetic counseling last year to find out if we were at risk for anything out of the norm. 

LauraLovesJon

We didn't plan on the NT scan last time but ended up having a follow up ultrasound at 11wks anyways and they noticed the fluid. We had less than a .5% chance of having a baby with Trisomy 13 at our age and health, but we won the unlucky lottery. It really really bothers me when people say that "I'm not going to get it because I wouldn't terminate" it insinuates that those getting it done would. We are doing it this time one, because of our history, but two, because we want to be prepared again if it happens. I can honestly say that had we not known ahead of time of his condition we probably would not have gotten to spend the 12 hours he lived with him. Had we not known, they probably would have rushed him off for observation and put him in the NICU, and he would have passed away there rather than in my arms. I think most people that have it done do it so they can be prepared and have a plan. That being said it is a very personal choice and there is no right or wrong way to go about it, I just don't like it when people assume things about those who choose to do it. Also, the NT scan shows signs and probability of these issues, to know for sure further testing such as a CVS or Amnio need to be done. 

Trishes

They did bloodwork screening for CF yesterday because I mentioned that my second cousin had CF.

 We won't be doing a screening for Downs. Even if it is positive, it could be false, and even if it's not false, there's nothing we could or would do about it.

epphd

LauraLovesJon:

We didn't plan on the NT scan last time but ended up having a follow up ultrasound at 11wks anyways and they noticed the fluid. We had less than a .5% chance of having a baby with Trisomy 13 at our age and health, but we won the unlucky lottery. It really really bothers me when people say that "I'm not going to get it because I wouldn't terminate" it insinuates that those getting it done would. We are doing it this time one, because of our history, but two, because we want to be prepared again if it happens. I can honestly say that had we not known ahead of time of his condition we probably would not have gotten to spend the 12 hours he lived with him. Had we not known, they probably would have rushed him off for observation and put him in the NICU, and he would have passed away there rather than in my arms. I think most people that have it done do it so they can be prepared and have a plan. That being said it is a very personal choice and there is no right or wrong way to go about it, I just don't like it when people assume things about those who choose to do it. Also, the NT scan shows signs and probability of these issues, to know for sure further testing such as a CVS or Amnio need to be done. 

Agreed.  As another example, open any newspaper today and you'll see that a landmark study was just released showing that kids with spina bifida who have fetal surgery (as opposed to surgery after birth) are TWICE as likely to walk unassisted and twice as likely to not need brain shunts.  If you have the opportunity to intervene and prepare for a child with a birth defect, why would you opt out?  I don't personally understand that. 

duchess0727

I've done tons of genetic testing and will do the NT screening plus anything else my dr recommends.  I'm jewish so I've already done carrier testing for mostly everything with my first two kids.  But having a kids with special needs already, I would want to be prepared for anything else coming my way. 

MrsChamp11

I hate hearing people say they won't do genetic testing because they don't plan to terminate. Genetic testing has nothing to do with termination!!! It has 100% to do with planning. If you know you are likely to have a child with CF, it is extremely helpful to have the right medical team in place when the baby is born. Without knowing ahead of time, your baby has a chance of not receiving the medical care they need right away. Choosing not to terminate has nothing to do with doing the genetic testing. ACOG recommends CF testing for every pregnant women. There is a reason for that! Being able to plan ahead can save a baby's life. I used to work in te women's health/genetic field and strongly believe that genetic testing has nothing to do with your choice for termination.

epphd

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Ginkeez

There are a lot of false positives with those tests.  In some parts of the country, almost everyone gets the tests done, but here, where it is very conservative, most people don't bother with genetic testing.  One, because they refuse the risk of the amnio.  Two, because even if they found out their baby had a genetic problem, they wouldn't do anything to end the pregnancy. 

After having some problems with my last 2 pregnancies, I did seriously consider it, but ultimately decided against it.  My insurance would also cover it, but I am one of those people that wouldn't do anything if they did find a problem, except plan, which is the only reason I would have gotten the tests in the first place, to plan.

njmommaterp

mrsmikey:

I will have any and all testing done available to me.  IMO, it's not just about terminating or not.  Some things can be treated in-utero, or you might want to deliver at a different hospital if your baby has a certain condition.  If nothing else just to be prepared.  I would not want to find out my child had some kind of disease or life threatening condition on his birthday if I can avoid it.  But it's a personal thing.  I am just very pro-testing.  I could go on and on and jump on my soapbox but I'll leave it at that.

You might want to talk to your OB about it too.  My nurse was very uninformative and pretty much just gave me some papers, but my OB discussed it with me in detail and made me feel much more strongly about it.

Great point! This week on the news around here they were talking about how CHOP in Philly and one hospital in San Fran does surgery on babies with Spina Bifida (before they are born) and they interviewed a family that son had the surgery done and he is 6 yrs old now and doing well. They said, if the baby has the surgery while in utero, their progression is ahead of children that have surgery after being born, etc...medical advancements are amazing.

So the point you made to me adds different insight on doing a NT Scan or not.

SkyBee

mrsmikey:

I will have any and all testing done available to me.  IMO, it's not just about terminating or not.  Some things can be treated in-utero, or you might want to deliver at a different hospital if your baby has a certain condition.  If nothing else just to be prepared.  I would not want to find out my child had some kind of disease or life threatening condition on his birthday if I can avoid it.  But it's a personal thing.  I am just very pro-testing.  I could go on and on and jump on my soapbox but I'll leave it at that.

You might want to talk to your OB about it too.  My nurse was very uninformative and pretty much just gave me some papers, but my OB discussed it with me in detail and made me feel much more strongly about it.

This. I would like to know what to be prepared for.

LauraLovesJon

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Completely agree, even though I went through it, I know now more than ever not everyone can handle it.  

BrittDanX

epphd:

LauraLovesJon:

We didn't plan on the NT scan last time but ended up having a follow up ultrasound at 11wks anyways and they noticed the fluid. We had less than a .5% chance of having a baby with Trisomy 13 at our age and health, but we won the unlucky lottery. It really really bothers me when people say that "I'm not going to get it because I wouldn't terminate" it insinuates that those getting it done would. We are doing it this time one, because of our history, but two, because we want to be prepared again if it happens. I can honestly say that had we not known ahead of time of his condition we probably would not have gotten to spend the 12 hours he lived with him. Had we not known, they probably would have rushed him off for observation and put him in the NICU, and he would have passed away there rather than in my arms. I think most people that have it done do it so they can be prepared and have a plan. That being said it is a very personal choice and there is no right or wrong way to go about it, I just don't like it when people assume things about those who choose to do it. Also, the NT scan shows signs and probability of these issues, to know for sure further testing such as a CVS or Amnio need to be done. 

Agreed.  As another example, open any newspaper today and you'll see that a landmark study was just released showing that kids with spina bifida who have fetal surgery (as opposed to surgery after birth) are TWICE as likely to walk unassisted and twice as likely to not need brain shunts.  If you have the opportunity to intervene and prepare for a child with a birth defect, why would you opt out?  I don't personally understand that. 

I agree with both of you.

We are having any and all testing done. I want to be completely prepared as early as possible.

mrsmikey

LauraLovesJon:

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Completely agree, even though I went through it, I know now more than ever not everyone can handle it.  

A close friend of mine was in a similar situation as you, her baby had a fatal disease and she chose to carry to term.  The baby only lived a few minutes on the outside, but I could NOT imagine what that would have been like if she hadn't known ahead of time. 

okayestmom12

MrsChamp11:

I hate hearing people say they won't do genetic testing because they don't plan to terminate. Genetic testing has nothing to do with termination!!! It has 100% to do with planning. If you know you are likely to have a child with CF, it is extremely helpful to have the right medical team in place when the baby is born. Without knowing ahead of time, your baby has a chance of not receiving the medical care they need right away. Choosing not to terminate has nothing to do with doing the genetic testing. ACOG recommends CF testing for every pregnant women. There is a reason for that! Being able to plan ahead can save a baby's life. I used to work in te women's health/genetic field and strongly believe that genetic testing has nothing to do with your choice for termination.

 

Agreed!! We'll go ahead with the testing and no matter what, we won't terminate. We just want to be prepared, that's all.

macdidlyicious

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Abso-freakin-lutely! It is no one's effing business what someone decides to do in regards to results from these tests. Every family, every person is different. I dont think someone can say with 100% certainty "we wouldnt terminate anyway". How can you? Its not always as black and white as everyone makes it out to be.

BrittDanX

macdidlyicious:

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Abso-freakin-lutely! It is no one's effing business what someone decides to do in regards to results from these tests. Every family, every person is different. I dont think someone can say with 100% certainty "we wouldnt terminate anyway". How can you? Its not always as black and white as everyone makes it out to be.

Agreed. A while ago, there was a lady on this site who found out that her baby had a hole in it's heart and would not live past birth. The Dr. said it was suffering, and they made the hardest decision of their lives and terminated the pregnancy. I wish I remembered her screen name, so I could post her blog story because it would shed a lot of light on this "I won't terminate no matter what" ignorance.

okayestmom12

BrittDanX:

macdidlyicious:

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Abso-freakin-lutely! It is no one's effing business what someone decides to do in regards to results from these tests. Every family, every person is different. I dont think someone can say with 100% certainty "we wouldnt terminate anyway". How can you? Its not always as black and white as everyone makes it out to be.

Agreed. A while ago, there was a lady on this site who found out that her baby had a hole in it's heart and would not live past birth. The Dr. said it was suffering, and they made the hardest decision of their lives and terminated the pregnancy. I wish I remembered her screen name, so I could post her blog story because it would shed a lot of light on this "I won't terminate no matter what" ignorance.

 

I have a problem with you calling someone's feeling not to terminate, no matter what, "ignorant".  Some of us, for whatever reason, would not terminate... be it personal choice, religious preference, or whatever the case my be.  Let's not judge others for their individual choices. 

hisaak

We have chosen not to do testing at this time.  Between the risks of several of the tests, and the possibly false positives, our personal choice is to decline.  This is in spite of us finding "surprise" twins at our 18 week ultrasound with our first pregnancy.

That said, if something comes up and testing is advised due to concerns at any point, we will then reconsider our choices.

I completely understand why many people choose testing, but do not think that choosing not to is a decision always made in ignorance.

BrittDanX

tm599:

BrittDanX:

macdidlyicious:

epphd:

And I'll go ahead and say it... if a woman undergoes testing and chooses not to continue a pregnancy because of what it reveals, she has every right to do so. It is a decision that I am sure no family wants to make, but that does affect every member OF that family. 

If it is revealed that a child will likely not survive after birth such as is the case with trisomy 18, or will have a debilitating illness that is lethal in childhood like Tay Sachs, I would absolutely understand not wanting to continue pregnancy. 

Abso-freakin-lutely! It is no one's effing business what someone decides to do in regards to results from these tests. Every family, every person is different. I dont think someone can say with 100% certainty "we wouldnt terminate anyway". How can you? Its not always as black and white as everyone makes it out to be.

Agreed. A while ago, there was a lady on this site who found out that her baby had a hole in it's heart and would not live past birth. The Dr. said it was suffering, and they made the hardest decision of their lives and terminated the pregnancy. I wish I remembered her screen name, so I could post her blog story because it would shed a lot of light on this "I won't terminate no matter what" ignorance.

 

I have a problem with you calling someone's feeling not to terminate, no matter what, "ignorant".  Some of us, for whatever reason, would not terminate... be it personal choice, religious preference, or whatever the case my be.  Let's not judge others for their individual choices. 

You cannot say what you would or would not do unless you have been down that road. That is where my "ignorance" comment comes in. If the Dr. said your baby was SUFFERING......it would be cruel to not consider termination. It is my job as a mother to protect my child, and I personally would never say I would not terminate.

This is all my opinion. Take it or leave it. 

epphd

The thing that bothers me about the "We would never terminate anyway" remark is that it seems to necessarily imply that "anyone who would terminate is a horrible selfish person."  I know that's not always the case, but I'm just explaining why it rubs me the wrong way. 

BrittDanX

hisaak:

We have chosen not to do testing at this time.  Between the risks of several of the tests, and the possibly false positives, our personal choice is to decline.  This is in spite of us finding "surprise" twins at our 18 week ultrasound with our first pregnancy.

That said, if something comes up and testing is advised due to concerns at any point, we will then reconsider our choices.

I completely understand why many people choose testing, but do not think that choosing not to is a decision always made in ignorance.

Not sure if this was directed at my ignorance comment or not, but I completely agree with you. If someone chooses for their own reasons to not have testing done, I don't think that's ignorant at all.

My ignorance comment was to people who say "I will not terminate no matter what" without ever having been down that road.

manda26

MrsChamp11:

I hate hearing people say they won't do genetic testing because they don't plan to terminate. Genetic testing has nothing to do with termination!!! It has 100% to do with planning. If you know you are likely to have a child with CF, it is extremely helpful to have the right medical team in place when the baby is born. Without knowing ahead of time, your baby has a chance of not receiving the medical care they need right away. Choosing not to terminate has nothing to do with doing the genetic testing. ACOG recommends CF testing for every pregnant women. There is a reason for that! Being able to plan ahead can save a baby's life. I used to work in te women's health/genetic field and strongly believe that genetic testing has nothing to do with your choice for termination.

  Agreed! I plan on doing, appointment is 3/1

hisaak

BrittDanX:

hisaak:

We have chosen not to do testing at this time.  Between the risks of several of the tests, and the possibly false positives, our personal choice is to decline.  This is in spite of us finding "surprise" twins at our 18 week ultrasound with our first pregnancy.

That said, if something comes up and testing is advised due to concerns at any point, we will then reconsider our choices.

I completely understand why many people choose testing, but do not think that choosing not to is a decision always made in ignorance.

Not sure if this was directed at my ignorance comment or not, but I completely agree with you. If someone chooses for their own reasons to not have testing done, I don't think that's ignorant at all.

My ignorance comment was to people who say "I will not terminate no matter what" without ever having been down that road.

Nope, not directed at you at all - ignorant just happened to be a word we both used!  More just at the general sentiment that those who choose not to test must not have done their research and are choosely blindly.  I always find that maddening because we have done a ton of research, and made our choices based on that and personal preferences ... I know it is our choice, and is not for everyone, but it was made with much thought