Question on Triple Screen Results

[lablover]

Hi - I don't post that often, but I have a question for you all. I had the triple screen test done last week at 15w6d and received the results yesterday that I "tested positive" for Down Syndrome and my risk level was 1:220. I'm 34 years old. Now I know all about the "false positives" this test gives, that it's just a screening test, that my risk is really only .45%. I think I've been on every website imaginable before and after the test. I was on the fence about getting the test (I had normal results with my first child) but I told myself that if it came back positive I wouldn't worry. Yeah, right. So here is my latest stressor. I know several people IRL that have gotten false positives, but for most of them I seem to remember they had issues with their due date, and I know gestational age errors cause a lot of the false positives. I am absolutely certain of my due date - I even adjusted my LMP back 4 days because I knew I ovulated on CD18.

So, did anyone get a false positive for Down Syndrome when they were certain there wasn't an issue with the dating of the pregnancy???

I didn't have the nuchal translucency test, but I happened to have an ultrasound to see if a small subchorionic bleed had resolved at 11 1/2 weeks and the tech measured the nuchal fold at 1.6 and identified the nasal bone. Another ultrasound at 13 weeks measured the fold at 1.9 or 2.0 I think. There is an ultrasound office at my dr's so I'm hoping that the techs knowledge/equip is as accurate as those giving an actual NT test. (I don't know if the techs had the special training for that specific test.) Anyway, I know those are good results to have but I don't want to get my hopes up too high. I know that some say that SC bleeds can cause errors on the triple screen, but mine was identified at 9 1/2 weeks when I spotted and had resolved by my 11 1/2 week ultrasound, and I had hardly any bleeding. The nurse said it wouldn't affect the test at all, so I can't believe that is the cause.

Originally my OB scheduled an amnio at their office for next Thursday. I swore I'd never have one, but I can't go through the rest of the pregnancy worrying like I will. I did my own research and found a highly regarded maternal fetal medicine and genetics practice and made an appt there for next Wednesday. I feel better going to someone who specializes in these things, and I will now meet with a genetic counselor first, have the ultrasound, and then the amnio. I'm also irritated with my OB because she said that the normal risk level for my age group is 1:5000, which I know is wrong. She also told me that there were no other steps I could take before having the amnio. So I feel better in the hands of a specialist, and on a local message board numerous people said this office is very caring.

I've read all the archives and know the odds are in my favor, but I still worry about being that "one". I'm getting over my fear of the MC risk associated with the amnio, and I'm just hoping the next two weeks go by fast and I have a happy result in the end. Thanks for listening!

[lisa56308]

Big hugs! BTDT and have a healthy toddler boy to show for it. What I figured was may due date was only a couple days off of what the US measurements showed it should be. I don't remember my exact odds but it was 1/300+. I was also 34 (35 when I delivered). My doctor was very reassuring and discussed all the possible next steps. We opted to go with a level2 ultrasound and take it from there. I was referred to a perinatology practice in a larger town for the procedure. That appointment started with genetic counseling (specific to the quad test) and then the US. The tech looks for many things that are characteristic of downs but if one of them is positive, it doesn't mean the baby has downs. The actual US is very neat since it's pretty detailed and I had a great tech. The perinatologist also came in and did his own US stuff and talked about the findings. Amnio was offered as a next step but I opted not to have it since none of the characteristics were found.

I would cancel next Thursdays amnio with your OB and go to the appt with the other practice. Ask for a level 2 US (I'm assuming that's what you're probably getting anyway) and then make your decision about amnio after US results. Try not to worry too much (I know, easier said than done).


P&PT coming your way!

[wendmatt]

I had positive results and knew my dates were right so had an amnio. It was not a big deal, made me a bit nervous but I really wanted to know for sure (U/S didn't show anything wrong). It all came back fine and DD is a healthy 3yo now. For me it was worth having the amnio, good luck I'm sure you will be fine.

[newmomto3kids]

I also had a "positive" triple screen for Down Syndrome. I think mine was 1:200. I did not have an amnio but had a level II ultrasound. They showed no markers for Down Syndrome, but did show that she had a two vessel umbilical cord. She was born healthy at 39 weeks with no sign of Down Syndrome.
I also was totally sure of my date of conception!!
Best of luck, let us know how it turns out.

[overcome]

Me too, me too...I was 34 and my risk was 1:18. After having a level 2 ultrasound at a perinatal center the dr said everything looked very good (ie no downs) but only I could decide if I wanted an amnio. Knowing my personality (type a) I had the amnio. I was worried about a mc too, but everything turned out A-Ok! I have a beautiful 6 month old!! BTW..the amnio was super quick and didn't hurt a bit. It allowed me to truly enjoy my pregnancy.

Good luck...whatever decision will be the right one b/c you made it!

Ashley

[megs4413]

I didn't have the triple screen test done, but during my pg with DD, they noticed on u/s that she had fluid on her brain. They were obligated to recommend an amnio, but I decided to decline. The risks of mc with an amnio are somehwere between 1:200 and 1:400. Since that is where your risks lie for Downs anyway it might be worth it to wait and see how it goes. You can probably keep track of it on u/s. I would definitely wait to have the amnio since you might not need it anyway. We also saw a genetic counselor who helped us to feel better about the whole thing. She helped us to make peace with the uncertainty and trust me i'm a worrier!!! Like the pp said, wait and see the genetic counselor and get a more in-depth u/s. You might not have to go through all of that!! Good luck...we'll be praying for your family. BTW, DD was born without any problems and did not have any excess fluid on her brain after birth! She's a happy healthy 1 yo!

[jesseandgrace]

The test is an absolute nightmare, almost all the people with your results will have no problems. My due date was correct, and I had about a one in a hundred chance of downs at 33 years old. My first pregnancy triple screen was normal as well. There is absolutely nothing wrong with my daughter, she does not have downs. The test is really misunderstood, even it seems by some of the medical community. Basically the geneticist told us that they want to catch any babies with downs, and there isn't a non-invasive test to do that, so they cast this really wide net because some babies with downs have been shown to have certain levels of what they test for (low of something, high of something else, I can't really remember) but many more non-downs syndrome children have these statistics than down syndrome children, but there just isn't a better test so they do it anyway. Then, they hope to catch the tiny amount of this group with babies with downs by a more invasive test like an amnio. Some people have results like a one in 10 chance or even less, and they still have a 90% chance of no downs syndrome. The test also does not catch all of the babies with downs, and some children born with downs will have tested fine on this triple screen. This is a really stupid analogy, but to me the test is something like this. You see a little red mark on someones arm and tell them they might have chicken pox. OK, maybe someone out there with a red mark has chicken pox, but most of us have a bug bite, pimple, rash, or nothing at all, and furthermore some people with chicken pox won't have marks yet and we won't be able to "diagnose" them. I'm definitely not a doctor, but to the best of my knowledge this is how this test was explained to me.

The crappy thing is, when you get these results it is normal to worry that you will be the one, but just remember, the chance is so low it is barely above a normal risk for your age, a risk well worth taking. I chose not to have the amnio because our level 2 ultrasound showed no soft markers or anything abnormal, but I couldn't go through that again, I would do an amnio if I had another child. My friend just had basically the same results as you, her dates were correct, and she had an amnio and her baby boy looks just fine in there. Most people I know who came back with a higher than normal risk had their dates correct. Another thing about the test is that they won't repeat it for downs like they will for spina bifida, because the test has such a high false positive rate it could and would likely be totally different, not exactly a reliable test!

[jayali]

I totally agree with you. When we got pregnant again (first was a m/c at 9 weeks) I wanted to have testing done. My gynocologist (who I absolutely love) told me not to bother with the triple screen. I was 40 at the time and she said because of that my numbers would probably come back overly inflated and would end up worrying me for my entire pregnancy. So we ended up doing CVS so that I could have absolute results.

I just wanted to say that while these triple screen tests to offer a non-invasive way to help parents make some further genetic testing decisions they really are just a "screen". I would definitely wait and meet with the perinatologist. Use the screen results as info to use in conjunction with U/S info.

Good luck. Am sending good pregnancy thoughts your way!

[starrynight]

My friend did, she doesn't want the amnio, she is 33. She went for the 4-D u/s and they did the fold tests and checked the other markers and she had none. She said it wasn't worth the risk to her (the amnio)because the fold test showed healthy baby, if there were markers on the u/s she might have considered the amnio.

Dh's cousin also had a false positive but that was 11 years ago, the test wasn't as acurate I believe. She had a repeat test and her son is fine.

Good luck!

[lablover]

Thank you all for your reassuring words - they helped to calm my fears. I haven't decided what I will do about the amnio. I will see what the Level II brings and then probably follow the advice of the specialists. Thanks so much!