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May 2011 Moms
Genetic Testing
When I was at my first appt this past week, my doctor said I needed to think about Genetic Testing (in the upcoming weeks10-13). I was also approached with the question, if the tests come back positive for Genetic Defeats (downs syndrome or others) would termination be an option for you? I was just wondering how you guys felt about this, if your doc had asked you these questions, and if you are getting the genetic testing?
This is my first pregnancy so I am unfamiliar with all this!
This discussion has been closed.
Re: Genetic Testing
This was exactly what we did/how we felt.
DH and I are doing the blood work because it's covered but we wouldn't terminate if something was wrong. We are younger and have no history of down syndrome or other genetic defects so our doctor didn't really care one way or another what we decided to do.
If you're older your doctor may push the genetic testing because I have heard as you get older the risk for defects increases. My StepMIL had a perfectly healthy little girl a few years ago, she was late 30s, early 40s at the time. I know she had an amnio done because the doctors were worried but it all worked out.
I'm 35 so we had genetic counceling after our 1st US and they went through everything. We'll have the NT scan which is pretty routine and take it from there. We definately are not taking the risk with CVS just because 1% of cases are non-diagnostic and you then have to go do the amnio anyway plus it doesn't determine neural tube defects.
The diagnostic stuff does make me neverous - my neighbor had CVS and she was in that 1% - they said she could have trisomy 3 - most pregnancies with this self-terminate it is so severe and she said there were only 500 cases of live births with no chance of long-term survival. She had a healthy baby but said they went through hell waiting for an amnio to know for sure -so that's the other downfall to some testing - false abnormalities that worry you sick. Only CVS and amnio are diagnostic. The rest just adjusts for potential risk.
That said - we would likely do an amnio if the NT was abnormal. I think preparation is key. I understand why people don't want to take even the most minute MC risk because it wouldn't impact their decision, but the diagnostic tests are not just to help you decide if you need/want to abort - but to give you time to make preparations for a special needs child. People visit daycare providers months in advance to make sure they have the right one, why wouldn't you want to do the same for providers and support you would need for a sick or special needs baby? That's my take.
As far as termination - I like to think it wouldn't be a consideration but I never say never. I think it is a very emotional, devastating, and personal choice. I would never judge anyone for making it. A baby with DS is a challenge, but they also bring alot of joy to family and can live realtively healthy and long lives. There are other diagnoses that are so severe the chance of survival after birith can be 6 months max, and that's with the most invasive medical treatment, baby never being able to come home, and the baby suffering and requiring constant pain meds to minimize it. I don't know if I would be able to watch my baby go through that. I hope to God I never have to find out or make that decision, but I would want to be able to make the decision regardless.
A bigger factor in our choosing to not have genetic testing done (besides the fact that we are already lower risk because we don't have the family history, age, etc), is that I have anxiety issues and I know that if I were to find out there was a risk, that anxiety would consume me the rest of the pregnancy.
So we're trying to take things as they come and pray that we have a happy healthy baby at the end of this.
We are not getting any of that testing done, even if my insurance does pay for it. Afterall if something comes back saying there might be something wrong all I will do is worry until the baby is born. That worrying could cause hard to the baby and pregnancy. Also I work with parents who have a child with disabilities and have decided no matter how much prep-work you put into preparing for a child with disabilities, you are never prepared enough (sort of liking being a parent but even worse).
What is done is done... just like I can't change the gender of the baby and would never terminate the baby because it was one way or the other. This is my child- and I am going to love it no matter what.
let me just say that anyone on here can say what they THINK they would do if they got a bad result - but until you are there - you really do not know.
We did the NT Scan/bloodwork - all was fine. We had the sequential quad screen which resulted in a 1:8 risk of Trisomy 18. Worst day of my entire pregnancy last time. We thought we would maybe terminate if LO had it as it is fatal condition...but I felt movement already and there was no way I would terminate after feeling her move. We had a level 2 u/s which showed zero markers....so we opted to NOT do an amnio (did not want to risk m/c based on a false positive). 10 weeks of my pregnancy was horrible with the uncertainty. I had tons of u/s to check growth and she was progressing fine which meant she was in the clear by 28 weeks.
Most people have fine results and everything is hunky dory....but if you choose to get the screening done - be prepared for a false or real positive. It was horrible to go through and we are opting to NOT do the screening this time around.
The NT scan is standard with AMA moms (35+), so I will do it just like I did last time. It just gives you your odds of a defect, doesn't say you do or do not have a baby with Downs. They combine BW results with the u/s measurements.
I don't remember what our ratio was last time, but just for example at 35yrs old say you have a 1/500 chance of a defect. I *scored* 1/900 (again just guessing) which meant I had an average chance of a 31yr old.
I loved seeing the babies for such a long u/s! Also it gave me peace of mind that the nuchal fold was a good measurement.
I honestly can't say what I would do because I have never been in that situation. It would probably depend on what we were talking about, like if it were fatal or how much the child would suffer. Obviously it is a very personal choice.
we are going to get it done but not to find out to terminate (not an option for us) we just want it so that way we can be educated just in case we might have a child with needs. If they want to do an amnio that is a no! we are glad that our dr's office does not suggest it either or at least that is the vibe we got. We will love our babies no matter what but we want to know so if there is anything we can do to be more prepared we will do it.
happy and healthy babies to everyone