Testing for Downs Syndrome

Hi all, I am 10 weeks 5 days pregant with twins. My last Ultra Sound at 10 weeks showed they wee doing just great. I had blood drawn for the genetic testing yesterday and we find out net Friday about Downs Syndrome and Trisomy. I am a nervous wreck. I am 34 years old (will be 35 when the babies come)...and I have known two people that had positive results and both discontinued their pregnancies. I cannot even imagine having to make that decision. Did most of you take this test? Maybe I am extra nervous because this has hit close to home a few times....

Also, when can I breathe a sigh of relief and start enjoying my pregnancy? :FIFblush:

 

I had the quad screen done with both pregnancies, and found it a relief to know that there were no major abnormalities. I found I was more nervous with these twins...I blame the extra hormones. Although I don't think we would have changed anything if the results were less than positive, but it was one less thing to have to stress over. Keep in mind that the test results will only give you odds (like 1 in 1000), not a definitive yes or no. Think of the test as a pretest...if the results raise any flags then it will give you the opportunity to do further testing if you choose. Good luck with everything, it can be hard to not stress until you get those results back :hug:

 

My BF had the quad screen done and in her last pregnancy, found that the markers were high for Downs Syndrome, but when her son was born, he was fine. I did not have a quad screen done with the twins, our OB had said that the results were difficult to decipher with twins and a lot of times twins produce a false positive. I agree with the pp, think of the results as a pretest. It is really hard not to be nervous :hug: Wishing you all the best!

 

I didn't have any testing done with either pregnancy. With the ultrasound, they can tell if there are some indicators (skin fold at the neck, lip area) and that was good enough for me.

As for enjoying your pregnancy? Hmmm...I never did. I was very cautious with all my feelings because I was stress, scared and overwhelmed, on top of being uncomfortable and tired (bad insomnia!).

 

We did not do any of the genetic testing, other than u/s. We were not going to abort due to medical reasons no matter what, so it made no difference to us either way. We were also told that there is a higher rate of false positives with those tests in Twin pregnancy. I wish you the best of luck! :hug:

 

Hiya

Sorry that you are stressing about this. We too decided against the blood screens as the results are often distorted with twins.

I just wanted to chime in to say though that you are not at a risk of a "false positive" as most people like to say. There is really no absolute positive or negative with these tests. The positive and negative only refer to which range your results come back within, what the lab considers normal or abnormal, and this range also varies from place to place. This result with then be given to you in a form of odds that the baby would have a problem. For example, you might get a "positive" result and that result with show that you have a 1 in 200 chance of a baby with a genetic abnormality. This still means that you have a 199 in 200 chance of a perfectly normal baby!!! On the other hand whatever the chances are that come back with a "negative" result you will still be shown a 1 in however many chance of a problem. Negative doesn't mean you have no chance of a genetic problem. It's all an just your chances...like chances of winning the lottery.

People really get stuck on the "positive" and "negative" when that isn't what you're really looking at. What you're getting are odds. And yes with twins the odds are likely not as accurate as with a single baby so you have to keep that in mind. But I say please forget about the "false positives" people keep talking about, and just look at the numbers that come back, and discuss it with your doctor.

Good luck and try to stay stress free

 

We didn't do any kind of testing like that. We declined them all, it just would not have made a difference. Hoping things turn out well for you, hang in there I know it's hard waiting. :hug:

 

I had the tests done, but you have to keep in mind it's not a yes or no answer, you'll get a chance back for Downs based on your age. I was 33 and I think the natural chance is about 1:300 or so and if you get a higher chance, you test positive but e.g. in a 1:200 chance you still end up with 199 healthy babies. You have to decide what you're going to do with the results (and/or pregnancy). There is plenty of further (invasive but definite) testing available, not without risks but it all depends on your wishes. You have to decide what the chance is that you're willing to take. Mine came back 1:7200 so as you can imagine, I felt like an 18-year old (haha!).

I just wanted to know what my chances were and if (very) positive, I would have done further testing b/c I might have terminated the pregnancy. It's a very personal decision of course.

 

Thank you all for your posts...it is good to get a better understanding of this all. thanks again :clapping:

 

I did not have any of these tests done either....I delivered the twins 2 days before my 35th birthday!

My friend who is over 40 has had 11 children. With her 10th, one test came back that the baby may have downs...she had a 4d ultrasound and everything looked okay. He came out just fine! So as other posters have said, it is not 100%.

Hope things go well for you!

 

I am 38 yrs old and yes, i did do the testing. My NST u/s was normal but my blood work came back a little abnormal so we decided to do the amnio, which is the only test that is 100% accurate...and thank god the amnio came back normal!! We now have two beautiful baby boys!!!! If your NST results come back abnormal, before even considering ending your pregnancy, do the amnio which can be done at 16 weeks along. Good luck!

 

I refused the test both times when I was preg. I don't think I will do it again this time either. I have been really up in the air with that, but I don't have a family history or over 35 to present concerns. The test scared me because one girl I knew was told her baby tested + for something and she was going to have an abortion as she had 3 other kids and was nervous about caring for special need child. Her mom talked her out of it and the lil girl was 100% healthy.
If your results come back + I agree with other posters and get an amnio. Good luck!

 

I had the screening down with both pregnancies. With the first the results came back that there was a chance for spinda bifida. We went to have a more detailed u/s (we had to wait over a month to get in) and they said everything looked fine.

With the second, we had it also and that is how I found out it was twins. The numbers were off so the doctor sent me for an u/s to make sure the pregnacy was dated correctly and the found two. That is why the numbers were off.

Gook luck!

 

Hi!
I had the AFP test with both my pregnancies, first daughter was born when I was 32, and I was pregnant with twins at 34 (delivered 21 days after I turned 35)! I got my AFP results like two weeks later I think. With the twins, however, my doc had me do the NUCHAL TRANSLUCENCY test, which is another blood test plus and ultrasound that measures the fluid in the neck which is an indicator of downs and the other trisomys. My tech told me that day that my odds were low. But, again, had to wait until next doc appt. three weeks later for actual results. Then, had another full anatomy scan at 21 weeks to check for abnormalities. By then, having already done the other two tests, I was pretty certain there were no down syndrome, but they checked every thing else out as well. And, at that scan, which I had done by a university hospital, the lady gave me my odds for my age. Mine were 1/113. So, I figured yes, 1 baby had downs, but 112 others born did not. So, when you look at it that way, it is a bit more reassuring.

P.S. - I did not have any results that led my doc to think I needed an amnio either time.

Hang in there! Odds are in your favor!

 

We declined also as it wouldnt have made a difference to us, we would not have aborted. On top of that, I didnt want to worry about a false positive I wanted to enjoy & embrace my pregnancy. I figured if the babies did have something I would have our whole lives to deal with it.
If you change your mind, tell your doctor you'd prefer not to know the results

 

We did a few tests but not after a lot of prayer and discussions. I am 35 and my nurse explained it to me like this. Even though abortion is not an option for us it would be beneficial for us to know since we would want the hospital to be ready to take care of a baby with downs because sometimes they have breathing difficulties or other issues. We live in a small town and it would help us to make a decision about where to deliver. Thankfully our tests came back good. I also have a friend who had all the tests even an amnio that said the baby definately had downs and He was born perfectly healthy. I couldn't imagine aborting that sweet little boy on the thought that he might not have been perfect in our eyes. He is perfect and has no trace of downs or any other medical problems at all. As parents we have so many difficult decisons to make--even before they are born. If you do the tests you'll worry. If you don't do them you'll worry. Just try to relax. This pregnancy will be over before you know it and you'll have 2 sweet babies!

 

We struggled with this decision, but in the end we ended up having the nuchal scan for the twins and it came back negative. It was a hard decision as my husband and I did not agree about how we would proceed if the results were abnormal. I hoping that you get this result back soon so you can relax. I've found with this twin pregnancy that there never seems to be a truly worry free time period, but as time goes on we get more and more hopeful we will meet this little guys. Good luck!

 

Ditto here...no reason for us to want to have a test.

All we cared about is what the Ultrasounds showed.

As far as terminating the pregnancy if someone was positive for Down Syndrome...that would NEVER enter my mind.

Ours came out fine with no genetic issues, but if they did, I feel it was because God knew we would love them either way.

So nope didn't have the tests...wouldn't have made a difference. It's not like anything can be done anyways until after they are born...and even then, with Down Syndrome, it's just a lil more TLC...not rocket science.

 

When I was pregnant with my twins they actually discouraged the quad screen because having twins can really throw off the results. Bleeding from the placenta can also throw it off... I don't know why, but this is what I was told and found through research when pregnant with my 4th child...a pregnancy in which I had a lot of bleeding. But in any case, the nuchal scan is a much better indicator...and it really is just the same as any ultrasound, just looking at more specific things. I had one of these with my 4th child simply because I was having so many scans due to the bleeding that I was in for one during whatever week they want to do it in...9 or 10 I think? The u/s tech said they can learn more just by looking for a normal nose during that week than they can from all the blood tests. She was disappointed that I didn't get the quad screen done just because she wanted to see the data from a 'messed up quad screen' due to the bleeding in comparison to a normal nuchal scan.