false positive for down syndrome test?

has anyone ever had a false reading for the down syndrome test that they do when your pregnant?
my doc says mine came back positive but could be a 60 % chance its wrong. iam so worried :(

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I had a false positive with my FT son and had an ultrasound about a week later where they measured the head, abdomen and femur and it turned out normal. I think that test is often false...

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I have heard it is false rather often. Even on the flip side of the equation, a good friend of mine had a test that said "negative" and her daughter did indeed have DS. Keep us updated. Are they going to do further testing?
Kim

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I have been wondering why they even administer a test that has a 60% chance of being wrong! That is not a good track record. It just makes us moms crazy with worry. I am so sorry you are going through this, especially when you have so much else going on.

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My understanding is that the false positives are very high with that test. We didn't bother getting it with our son b/c I didn't see the point...other than to induce worry. My sister-in-law was told that her first son would have DS. My brother-in-law said, "That won't prevent him from going fishing, will it?" In the end, her son did not have DS.

Wishing you the best.

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There is a good chance it's a false positive for DS specifically, but it could be some other genetic issue too. I also didn't get the test because the chance of a false positive was so high and the chance of having a baby with DS was so low, that is seemed unnecessary (especially since I was having an early ultra sound anyway). But as it turned out, my son has another genetic condition that would have shown up on the same test. He only has dry flaky skin, but the condition also causes complications with pregnancy that could have been prevented had I known! Even if your child does have DS, it's not as big a problem as most people seem to think. Just a little extra work when they are babies (physical therapy type stuff), and they may or may not be mentally delayed as well. I know a little boy with DS who is in a regular classroom AND he skipped a grade! I also know several people with DS who are slightly delayed mentally, but not enough to keep them from having great personalities or caring for themselves with no problem. There are an incredibly small number of people with DS who never learn to take care of themselves - and typically those people also have other conditions coinciding (like autism for example).

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I had the same test done and it came back false positive. I had additional testing - a very detailed ultrasound and amniocentis done to confirm that my baby was negative for DS. I was a nervous wreck when the false positve came back and no matter what I was told I made sure I had the other testing done. It was comforting to find out that everything was OK. You should talk with your dr about further testing to give you some piece of mind. It makes me mad that they give this test with such a high false positive outcome but I guess it is better than not knowing. Hope this helps

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Iam SO thankful for this group. I have been a nervous wreck since last night when the dr called,and now for the first time I dont feel as worried from all of your stories.
Iam scheduled for an ultrasound on Jan 7 that will tell me if this test is correct.
My doc asked me if I had ever had this in the past and if I had ever had an amnio done, of course the answer to both was no.
Iam really hoping I wont have to go as far with the amnio.
He told me the rate of false positive is 60% and that it could be a number of things that has caused it such as a wrong due date.
Please keep me in your prayers because you know I will worry until the 7th.

Thanks everyone :)

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I had a false positive. I think I was on the low end of my daughter having down syndrome. The percentage goes higher with many factors; age, pregnancy, family history, and of course the measurements of your unborn child. I was in a wreak, having a stillborn and 3 failed miscarriage, all at the age of 22. I wanted to know if it really was a false positive or was it really a positive so we, my boyfriend and I can prepare ourselves. We did opted for the amniocentesis. I thought it was very painless. There was the ultrasound tech and your dr. whom stick a needle in your abdomen to get some fluid from the baby sac. No worries. I'm sure everything will be ok. My partner was the only person who gave me support. My family members were very angry at me. I just graduated from college and I ended up pregnant. It was the worst time of my life and no one was there for me. I think you are in good hands. You have us who understand where you are coming from and everyone else around you who loves you. Best of luck.

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I actually heard on the news of a lady who was having twins and was told both of the twins had Downs Syndrome. This information came from the amnio! The lady was encouraged to abort, but she wouldn't. Well, the babies were born and they did not have Downs Syndrome! I didn't realize an amnio can be wrong, but I guess it can be.

Also, amnios can be harmful. Sometimes they do cause a miscarriage. Sometimes the sac does not reseal after the amnio.

I didn't do any of the pregnancy screenings. I knew I wouldn't do anything regardless of the results, so I saw no point. There is the idea that you can then prepare yourself, but since I would never have an amnio, there would not be anything conclusive as to any abnormalities.

With a 60% chance that the test is wrong, you are MORE likely to have a baby WITHOUT Downs Syndromw than a baby WITH it.

I hope it all works out well for you!

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thanks so much, all these replies are very encouraging and have helped me from worrying myself sick.
i think ive convinced myself it has to be wrong, but i will go on the 7th to see what they have to say.
iam beginning to wonder why i had the screening done too, there isnt anything to do besides worrying and be upset for the next 5 months.

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i don't blame you for being worried! I didn't have a false positive for DS, but I did for Trisomy 18. I believe it's in the same group of testing......after an ultrasound I was referred to a high risk pregnancy group who did futher testing - and was ultimately offered an amnio...which my hubby and I refused due to the risk of miscarriage. I still can't believe the insensitivity of the 'high risk group'.....they pretty much sat me down and said theres a chance the baby does have Trisomy 18 ( of which, the effects are devestating ) and I needed to make a decision that day weather or not to terminate the pregnancy. ( I was almost 5 months along at that point!) We decided to put our faith in God - and we were right to do so. At 33 weeks and 2 days gestation our beautiful, HEALTHY little girl was born.....no defects, no trisomy 18. Just keep your head up and try not to stress to much - which I know is impossible from experience! Best of luck to you and keep us posted!

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The AFP, or triple screen, is not a diagnostic test for down syndrome--it is a test that only shows your risk profile for a particular disorder and that, coupled with ultrasound markers, can give a doctor an idea of what the risk is for an individual. It is not a diagnosis--although it is commonly misunderstood as such. All the test shows is whether there is an increased risk for the disorder and whether further testing (amnio or otherwise) may be merited. IT IS NOT A DEFINITIVE DIAGNOSIS--so there really isn't a "false positive." An amnio or CVS test is much more accurate and what the medical community generally relies on in making a diagnosis--again, coupled with ultrasound markers (there are biophysical markers for Down's babies that, with the results of an amnio or CVS, can give a very good picture about what is going on). There is a small chance that the amnio could have a false reading but it is pretty rare for that to happen. As a previous post mentioned, there are risks in getting an amnio, which should be fully explored with your doctor. But no one should interpret the AFP or triple screen to be a diagnosis.

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The amnio has a accuracy rate of 99.4% to 100%.

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I agree with what Jaredkate said-there is no false positive on the triple (or quad) screen because it just gives you a chance, like 1 in 50 or 1 in 100 whether the baby has a genetic condition. I couldn't get the screen with the twins (the bloodwork is not accurate with multiples) so I ended up doing NT and Level 2 ultrasounds, but eventually got an amnio anyway. With my current pregnancy, my blood screen came back 1 in 50 for Trisomy 18. I decided to get an amnio and the baby does not have T18 or another genetic condition. The amnio or CVS tells you for sure, but as others have said, there is a risk. If you go to a perinatalogist, they have a much lower miscarriage rate from amnios.

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I forgot to say to Joyjoyjoy: although you are getting an ultrasound that should give a better idea if there is an issue, even the ultrasound cannot definitively say whether your baby has a genetic condition. Only an amnio or CVS can do that.

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Thanks for the responses.
JaredKate- thank you for your imput, thats more reassuring to know, however, the "false-positive" term came out of my dr's mouth.
I am also not understanding the screening process.
What made the test come up positive at all if this is supposed to show is an increased risk factor.
Something made this blood test come back positive and thats what is making me so nervous.
Also what is a CVS? and Trisomy 18? Ive never heard of these things.

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A couple we know were told there was an increased chance their son would have DS when they did the initial screening. Their son was born and was perfectly "normal". So please try not to worry all too much. All the best and do let us know how your next appointment goes.

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I too had the ultrascreen (blood test combined with detailed ultrasound) test and the results came back that I had an abnormally high risk (1 in 41) for trisomy 13 or 18, similar to Down's but the effects are worse. I was of course devastated at the news, I was only 12 weeks along at the time. At 13 weeks I had a CVS to get definite results. It turns out everything was fine. A few weeks later I had the triple screen blood test which came back slightly abnormal for me too (my Dr. made me have that knowing the genetic testing I had already had was normal... I don't know why). From what I understand (listening to others and hearing from my family member who is a doctor) there is an unusually high rate of false positives for those tests, so don't beat yourself up with worry....which I know is hard not to...I've been there! I wish you the best.

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Oh- and a CVS stands for chorionic villus sampling. It's similar to an amnio in that they "harvest" cells from the fetus through the chorionic villi (part of the placenta). At that early stage when they do the CVS there isn't enough amniotic fluid to get a good genetic sample form the baby. The chorionic villi has the same cells from the fetus. When they "harvest" them the cells are from living placenta (as opposed to dead skin cells from the baby when an amnio is done), so I think the results come sooner than with an amnio. At least they did for me... they did a special test and I had results in 24 hrs (called a FISH test). The cells are taken either through the abdomen like an amnio, or through the cervix. From personal experience it was VERY uncomfortable (they had to go through the cervix for me)... Personally, I would never do it again, since the results wouldn't change anything for me and my husband anyway.

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trisomy 18 is similar to DS, however from what the doctors told me...most babies do not survive....and if they do they have severe mental retardation and don't live long.

you'll be in my prayers! best of luck to you!

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