genetic testing

[arnwen]

Hi,
I have not posted in a while.  I am just about 13 weeks pregnant and things have been going well.  I had my 12 week U/s and genetic screening ysterday.  We had a beautiful u/s and were so excited.  After we were told that we were at risk for downs syndrome.  The baby's neck measurements were good....but my blood was not.  Something was high and something was low causing a large schew.  Instead of my risk that started at 1/834 going to like 1/10,000 it went to 1/134. We are just devastated.  I know the staticics are in my favor, its about 99% that it is ok, but i just am freaking out. The stats seems good, but whrn they are for your baby u keep thinking you could be that one person out of 134 whos baby has it.   I am only 27 and can't belive this.  She said there are 5% false positives and it could just be wrong for no reason.....my blood could just be differnet.  So i am having a cvs on monday.  I am so scared....it can cause a m/c and i am scared to find out the results.  the baby was so real and beautiful on the u/s I just can't understand why this is happening.  We already went through 1 m/s and i thougth things would be diff. this time.  Does anyone have any experience with this...please let me know if you have.  I am a wreck....cant sleep can't function.  

[photorose]

I understand your situation. I was 22 and had an amnio because of low afp. My daughter does have down syndrome. She is 11 now and is beautiful and happy and healthy. I just wanted to let you know that if your worst fears do come true you can have a happy ending. Best of luck.

[arnwen]

thank you for the words of encouragement............I will be having the test tomorrow.  I am just praying for the best.....I wish your friend the best as well.  This is so difficult.....and people are very quick to judge.....but unless you are in the situation its impossible to understand.  fingers crossed

[babyscience]

Keep your hopes up.  I have a friend going through the same decision right now.  She is going to have an amnio done in a week.  Although she is older, age 37.  
I would get all the tests done, just so you know what you are up against, then decide from there.  Just remember it is always your choice in what you do and others should not judge because it is a tough situation to be in.  
I have heard the blood test can have 20% false positives, even though they state only 5%, so your odds are even better.  Good luck with your tests, I am sure everything will come out okay!!!  

[willsmom]

I agree with Rita02.   Having a child with Down's or some other disorder would not be the end of the world, but I'm saying this based upon my beliefs that abortion is wrong under any circumstance.  I know of at least 2 people that got a false positive on the CVS testing and went on to have perfectly NORMAL pregnancies and babies!!!!   I just think you are missing out on the joy and wonder of pregnancy by unduly worrying yourself about this right now.  However, if you plan to abort, I guess I can see why you'd have it done (don't agree with it, but understand it).  BUT, these tests aren't foolproof.  If you plan to terminate, you could very well be terminating a perfect little baby.

[arnwen]

I certaintly don't want to risk my pregnancy, it has been a struggle to get here.   But now i have this information and my husband and  I can't ignore. I know that the screening tests are often wrong but sometimes they are correct.  The cvs test I am having is 99.99% correct. This is a huge shock to me and i am just trying to do the best I can with all the information....trying to understand everything.

[rita02]

why are you risking your pregnancy with a test that will increase your chance of m/c? will you abort if you find out something is wrong with the baby? soo many times i have seen those tests come back WRONG!!! (i am an ob nurse) a pastor at my church was told to abort; that the baby would die shortly after birth and the boy was born perfect! (now 7) you are stressing yourself out for a test that is not even fool proof!!! hold on to that perfect baby you seen on us and wait until delivery to see the blessing god has given you.....

[rita02]

but my question is..are you going to terminate your pregnancy if you find out there could possibly a problem, even though they could be wrong? i also understand that you don't want to ignore the information provided. but the error of  0.01% means that obviously it can be wrong or it would be 100%. i am sure that you and your husband will make the best choice possible for your family. i will definitely keep you in my prayers...

[arnwen]

I had the genetic testing done because it was offered as an option and was told most people do the testing, also the unkown really scares me........Although I am only 27 and have no family history of these disorders it obviously doesn't matter because I am at risk anyway.  So now i am just trying to find out how many people get good results after this kind of news

[willsmom]

Is there any particular reason you had the genetic testing done since you are only 27?  With my ds, I chose not to do it b/c my dr. said that there are tons of false positives and why worry the entire rest of my pregnancy over it and lose out on the joy.  HOWEVER, I never would have considered abortion if I had had it done and it showed some abnormality.  Also my dr. said she didn't even have it done and she was in her mid-30's when she was first pregnant.  I don't know what your preferences are and if you would consider abortion or not so these are just my thoughts.

[summer06]

My brother and his wife were told that they were at risk of having a baby with downs because of some test that supposely detected it.  BUT they had a beautiful healthy baby girl.  

[babysomeday]

I don't have exp. myself, but my brother and his wife tested positive for downs with their second child. All the measurments confirmed it as well. When he was born he was a beautiful health boy with NO DOWNS at all!!! :0) Good luck to you and I hope your outcome is as good as my nephews. I am sure it will be :) baby dust to ya :)