Downs Syndrome Screening Came Back Positive.....

Updated on May 13, 2013
R.L. asks from Buford, GA
27 answers

I had blood work done at 16 weeks, and received a call from the doctor today (I am 17 1/2 weeks) that my screening came back positive. I was told that my odds were somewhere around 1:3,6xx.. and that was something like less than 1% when you do the math (that's what the nurse told me). I was referred somewhere else for a high level ultrasound. I will not have the Amnio test, but I was wondering if anyone else had a ratio like that and what the result was.. I know that the test is really sensitive to everything, I just hate not knowing. I hate wondering. Had I known that the test was optional, I probably would have just opted out. I am 26, and will be 27 when the baby is born. It's a boy :)

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So What Happened?

Thanks everyone for your feedback! I don't know how to reply individually, so I am just posting here.. I am definitely going for the high level ultrasound, but I talked to the nurse again today and told her that with those odds it would seem like the screening would have been negative, and she told me it was RIGHT on the line, and that the only reason they are sending me to a specialist for the high level US is because it's routine for them. So I feel much better about it. For the one that asked, I would keep this baby no matter what, because I had PCOS and never had a period which is why I didn't know that I was even pregnant, nor could get pregnant, so this baby to me is my little miracle. I love him so much already!

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D..

answers from Miami on

There are a lot of false positives with this. I would read up on Down's, if I were you, but hold on to hope that the baby will be normal. There's MUCH more chance that he will.

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J.C.

answers from New York on

My friend was told that she had a 95% chance of Downs - she had an Amnio and all was fine.

Best of luck to you.

1 mom found this helpful
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M.D.

answers from Pittsburgh on

When my cousin was pregnant with her second child, she was told that the baby had a good chance of having Downs. I don't remember what the test numbers were. The baby was born (a girl) and she did not have Downs and was perfectly healthy.

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B..

answers from Dallas on

You are at a LOW risk. There is no "positive." The tests measure risks. They measure whether your risk. Low, moderate, high. Most of the time, through the ultrasound or seeing a genetic counselor, the risk lowers. I had an extremely elevated risk, but showed no "markers" on the ultrasound.

Again, the test does not say your baby has downs. They simply tell you what the risk is. Likely, you will feel very relieved once you get the ultrasound.

**Most babies won't have downs. I still did all the tests. The fact is, it's very valuable to know what's going on. If someone has a baby with downs (or other chromosomal abnormalities) there needs to be specialist there for the birth. There can be heart issues especially, along with other issues right after birth. Not only that, once can prepare themselves for what life will be like, with a special needs child. I don't consider these tests a curse, because I would feel like I need to know. I would not abort, and that's not my reason for the test. Knowledge s power. I can't imagine giving birth to a special needs child blindly, with absolutely no knowledge or perpetration. Not to mention, that puts the baby at a great risk.

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J.W.

answers from Detroit on

It is not a "positive". I hate that people refer to this as a "false positive". It just gives you odds.

I had a 1 in 25 chance, or 4%. I was 28. I also opted to only have another ultrasound. No amnio, I hated the risk, even if it was small. I did not want to risk harming my baby.

I appreciated the opportunity to educate myself before hand to prepare. I learned a lot.

My son did not end up having Downs, but I was o.k. if he did.

There is nothing you can do to change it and you will have the baby that was meant to be in your life :) My results won't affect yours, so you can't rely on someone else's results. Your odds are what they are. Just think of it as a chance to educate yourself and know that you will love your baby no matter what.

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Z.B.

answers from Toledo on

I have not been in your situation, but 1 in 3,6?? is 1/5 of 1%. This means that there is a 99.98% chance your child will not be born with Downs Syndrome.

Just wanted to give you some perspective.

6 moms found this helpful
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E.M.

answers from Phoenix on

My understanding is that "odds" of 1 in 3600 is basically an indication that your child is likely NOT to have Down's Syndrome. I would double check the results with your doctor. Depending on your age, that number may well be better odds than you had going into the pregnancy of not having a child with Down's. For example, an over 35 year old woman has odds somewhere around 1 in 200 of having a baby with a chromosomal abnormality.

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J.B.

answers from Boston on

Are you sure you heard the numbers right? 1 in 3,000+ is a very low risk and is basically a "negative." A screening is normally only considered "positive" (or increased risk of DS) if the results are 1:250 or 1:300. Depending on your age, it means lower risk than the statistical average - it basically means that it's almost certain that your child does not have DS. They can't say that you have no risk at all, but 1:3000 is basically the same as saying no risk.

With my OB, I don't know what her magic numbers are but for my first and third pregnancies, the risk of the baby having DS was "not elevated" and I never learned what the actual numbers were, but my OB felt that there was no need for concern or further testing. With my second, the risk was "elevated" at about 1:200 or 1:300. I opted for amnio so that I would be prepared and both the amnio procedure and result were fine. With my 4th pregnancy, I was carrying twins as a surrogate and the blood screening came back at 1:5000 (virtually no risk at all) and a spot seen on an u/s elevated that to 1:2500, which still means virtually no risk. Again, no need for any concern or further testing.

It sounds like your doctor's office should have explained the results better to you. If your numbers are correct, there is really nothing for you to worry about and they should have presented the results to you that way.

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M.S.

answers from Washington DC on

Hi there. Your results were 1 out of 3000 something? From what I recall from my testing, I think that means you have a very LOW chance of having a baby with downs syndrome. I suggest calling that nurse back and asking them to explain your results again so you can be sure about what they are trying to tell you. Best of luck to you and yours.

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S.H.

answers from Honolulu on

http://www.ndss.org/Resources/New-Expectant-Parents/Under...

Please read this link.
It is from the "National Downs Syndrome Society."

You had a "screening" test.
Not a "diagnostic" test.

With both my pregnancies, I had the Amnio.
My choice.
Ditto Bug, below.

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K.M.

answers from Kansas City on

I know this is a very stressful time for you. As most people have already said, there is a good chance your son will be healthy. However, knowledge is power. Our son is special needs (not down syndrome) and was diagnosed at 20 weeks. We are forever thankful for the early diagnosis. He needed interventions immediately after birth and would not have survived without the help he received. I hope you get all of the information you need:) HUGS!

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A.V.

answers from Washington DC on

I did not do anything past the neck measurement thing for my DD. If it had come back with a high probability, I would have started my research to see what I needed to do to prepare for a possible special needs baby. I would do the high level ultrasound for your own information and so that your delivery team is prepared for anything your baby needs. Good luck.

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B.B.

answers from New York on

So your chance was 1 in 3, 1 in 300, 1 in 100??? I am confused what they actually said. There is no "positive" only a likelihood. Downs can happen anytime. You can decline to pursue further testing if you wish, nothing is mandatory.

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S.B.

answers from Redding on

I was tested because I was in my thirties when I was pregnant with my son.
I didn't want the test because it's a miracle I got pregnant in the first place, but my husband was pretty insistant.
I would have taken whatever baby God gave me.

I was found to be very low risk which was a huge relief.

I know a girl who was only 20 when she had her first baby. She had an uneventful pregnancy with zero complications, no morning sickness, she had energy, felt great...The baby's heartbeat was strong and her tummy measurements indicated the baby was growing as it should.
When she gave birth, she said she knew the minute she held her baby that she had Down's, although there was no definitive diagnosis for a few days.
She just adores that little girl and says she wouldn't have changed a thing even if she had found out during her pregnancy. She went on to have a set of twins and the three of them are just like normal sisters. They are so cute!

Anyway, follow through with the high level ultrasound.
I know it's hard not to worry, but remember that worrying isn't good for you or you baby. Try to think good thoughts and remember your blessings and concentrate on growing a healthy baby.

Best wishes!

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J.T.

answers from Victoria on

This is not really a clear answer to your question but I hope it puts your mind to ease. Our insurance would not cover that testing. The doctor did ask if I wanted to have it anyway and I could make payments for this option. I told him " It does not really matter if the baby has downs we will love it no matter what its issues are" . I guess I only really remeber that because the doctor was some what taken back by it. Its not usually what I say that I remember its others reactions to my thoughts that make those moments stick out. What are you going to do if indeed your baby does have downs? An abortion,educate yourself on special schools, public schools,all the issues that go along with having an extra chromosome ? I understand if your feelings dont match mine on "special people". I am glad I did not do any testing. It did not really matter to me but I know it would have been a talked about topic with all family members and there views, issues and what we should "do" about it. Hopefully you can have the testing done again? Prayers for Gods will in your lives. Sorry you are having to deal with this.

2 moms found this helpful

K.A.

answers from San Diego on

My second and third children came back with high odds for Downs. Both of them were born perfectly healthy without Downs or any other problems.
I was 33 & 38 when pregnant with each of them so right off the bat the odds were stacked against me just because of age.
I saw a geneticist that asked a long list of questions and my odds went down a ton just from those answers. Then they did the high level ultrasound. With my second they found fluid around the heart and in the lungs (turned out to be an immature circulatory system that corrected itself completely before birth and didn't cause an issue). Because of that we did do the amnio (there were a couple things it could have been that meant he would not survive at all). The amnio began contractions and I was on bed rest for the rest of the weekend. I was terrified I was going to loose him and nothing was going to be wrong. My third, they did the ultrasound and found no markers at all. We didn't do the amnio.
They are both completely healthy, no problems, full term. They're 9 and almost 4 now.
Those tests are notorious for being inaccurate.

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S.M.

answers from Chicago on

I agree with Mommyc about the MaterniT21 test. Last year my NT test came back with a high risk of Downs Syndrome I think it was 1:8 or something like that. I had never done the tests with my other children, but because I was >35 they wanted me to do these. I really didn't want to do anything invasive like the amnio because of the risks to the baby, but learned of the MaterniT21 test from the dr. I decided to go ahead with that one (it was a simple blood draw that was sent away to a lab.) I am very glad I did because that one came back negative and I was much less stressed during the rest of my pregnancy.

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S.H.

answers from Santa Barbara on

Are you sure he did not give you 2 sets of numbers trisomy 13 and trisomy 18 each have odds? One is 1 in 3,600 and 1 in 100 (or something low)? I recall getting 2 sets of numbers. One was really rare (1 in 17,000) and the other was still low risk 1 in 7,500. Typically they want you to do the Amnio if the odds of a miscarriage is better than the results (i think 1 in 326, but each hospital/state could have a different threshold). Also, if you had an ultra sound and they found 'markers' that could be another reason to recommend the amnio. You do not need the amnio unless you want a more accurate answer.

Even 1 out of 2 is 50% chance of not having the 'thing' being test what ever they are testing. Most women who do not have 'markers' on the ultra sound and high risk odds (1 in 250 or less) end up with healthy babies.

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K.C.

answers from Los Angeles on

Ask your doctor about the new MaterniT21 test that is now available. It's a non-invasive test that draws your blood - not the baby's - and can give you a definitive yes or no for Down's and other Trisomy conditions.

Here is one (somewhat old, relatively speaking) article about it that will give you a bit of info: http://www.sciencedaily.com/releases/2011/10/111017102623...

Also, if you do a search for it on this board, I had posted about it awhile back and one other mom wrote back a TON of good info about it.

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J.C.

answers from Anchorage on

I hate that test, they get more false positives then any other result. Relax, don't worry until you actually have something to worry about. My odds came back with a far greater chance then yours and my boy was fine. I did the Amnio because I needed to know for sure.

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M.C.

answers from Washington DC on

My mom was pregnant 26 years ago at the same time as 4 friends. The four friends had the test, she did not. 3 of the tests came back positive for Down's. all 4 decided to keep the pregnancy. 1 child was born with mild CP. the other 2 did not have Down's.

I opted to skip the test for my pregnancies.

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M.P.

answers from Portland on

Yes, my daughter, at age 20, had test results (Idon't remember the numbers but she opted for the amnio. She did the amnio and it came back no risk for Downs. He daughter was born without Downs.

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S.R.

answers from Washington DC on

If it was part of the triple screen, I was actually told not to do that since I was old and the test almost always comes up positive. I'm glad I didn't have it. I know lots of people who got false + on it.

I did have an amnio, that's really the only sure way to know.

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O.O.

answers from Kansas City on

Well, I declined the test because they couldn't guarantee the result either way it turned out.
Good luck!!!!

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N.R.

answers from Chicago on

As a friend of mine told me when I had similar results, "Those are betting odds!" Such a slim chance that there's an issue. But having the ultrasound to ease your mind will be a good thing. Hope they can get you in ASAP. Easy to say, "don't worry" but really, MOST babies are born healthy and there's no reason to think yours won't be, too.

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M.M.

answers from Chicago on

There are a lot of false positives!
I had a conversation one time with a nurse who worked in the past in public hospital in a ward where they do mid and late term abortions, I know, horrible! Anyway, she told me that many mothers decide to abort because of the tests being positive for one abnormality or the other, and there is nothing wrong with the baby in the end!
Do your US, and hope for the best! God Bless!

G.W.

answers from Little Rock on

My little boy is 11 months old and has DS!!! He is so cool! He is number four for us. I took over 3000mg of fish oil everyday while I was pregnant. I got mine at Walmart Spring Valley 1000mg\300mg Omega. He has NO heart problems! He takes thyroid medicine and that is it. I got some kids DHA from GNC I give him 2 tsp everyday. At first I gave him 1 tsp. He does breast feed. He eats 3 meals a day and BF. He is 19 pounds and 30 inches long. I wish I could show you a picture. Feel Blessed! My little one is no different from my other 3. He has not sat up yet but he is trying really hard! He rolls every where to get in to things. He can spin really fast on his belly to turn around and get something he wants. Congrats on your baby and enjoy!!!!!

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