Down Syndrome Screening

Try not to worry. Did they offer you a level 2 ultrasound? I was given a false positive for Down's and Spina Bifida with my second pregnancy. I had a level 2 ultrasound and it showed everything was fine. My baby was born perfectly healthy. My sister was given a false positive for trisomy 13 which is similar to Down's, but much worse. She had a level 2 ultrasound which showed some markers for it, then had an amnio done, and everything was normal. I opted to not have any screening done with my 3rd pregnancy even though I was 34 and the risks were higher. I did not want the needless worry. I had another healthy baby.

Not to me, but a girlfriend of mine. Her daughter was positive for Down's, and then when they had the 20-week ultrasound, the child was fine, it had been a false positive.

Yes, I had a NT of 2.5, and an HcG level 3 times the normal level. I ended up with a risk of 1 in 42!! I am 32--I was stunned by this!! However, as I thought about it this meant that there was a roughly 2 % chance of a problem...and a 98% chance of nothing. Hearing it this way helped me. At 1/227--you are only at a 0.44% risk. I did have an Amniocentesis and it all came back normal. My daughter was born perfectly healthy in December!

I have known two people with false positives, who were advised to abort. Both sets of parents had normal babies! One grew up to be the valedictorian of her class! I refused to have the test done because I did not want the stress. Try to relax, and put it in God's hands!

Same thing happened to one of my friends -- in fact, I think the numbers were even worse for her...something like 1/200 and her baby is completely normal!

Yeah, those are still pretty big odds against. But I think this is a good opportunity for you to maybe do some mental role-play and prepare yourself for something to be different about your child than what you were necessarily expecting. Because that could come in all kinds of forms, not just Down Syndrome. I was the one in 227, where the test came back positive, and my child did ultimately have Down Syndrome. We chose not to do an amnio so we didn't know until she was born, but it was actually useful to play that 'what if' game early on. I felt ready in a way that I might not have been otherwise. And my daughter is the best, most wonderful thing that has ever happened to me. Perfection comes in lots of forms - be prepared to be surprised.

I had a false positive, and was so scared. I had an amnio done so I would know for sure. There are so many false positives with this test, so do not stress until after you get further testing done.

If you have a 1/227 risk, that is not a "positive." There is no positive or negative with the quad screen - it is not a test for a disorder, it just shows who might be at higher risk, and often leads to stress, more testing (riskier testing). A 1 in 227 chance is not a positive.

I did the first trimester screen.. blood work + an ultrasound measurement of the babies neck.. the baby measured fine. but the blood work came back too high..

I had an amnio to be sure..the amnio was fine.. baby had 26 normal chromosomes.. he is a fine boy... healthy and normal.. I was 41 when he was born.

remember that 1/227 odds mean that 226 out of 227 are totally nomral.. no matter what your age.. 95% of babies are genetically normal.. (have the right number of chromosomes) dont worry.. it will be fine..

Yes I did. My daughter is driving me crazy with boyfriend "picks" right now, so believe me,,, it can be wrong. I also was told, in addition to having Down's she had spina bifida. It was not correct. She is fine in every way but since I was 37 when I had the test I did believe it. Good luck and God bless. I wlll put you and your baby on my prayer list A..

I also had a false/positive because I was 34 yrs old they recommended amnio. Didn't do it becasue I was having this baby. Who by the way is a typical/delicious 7 year old boy. Relax and listen to your doc. Congrats on your future babe!!!

I had a false positive with my eldest son when I was 12 weeks pregnant which led to a lot of anxiety and worry. My result was 1/150.
I was offered an amnio but refused it because of the risk of miscarriage (I would have continued with the pregnancy anyway).
Anyway, I now have a "normal" healthy 7 year old boy.
It is the hardest thing to do but try not to stress about it.

I had a higher risk then that and I'm young. ( I don't know your age, but like another mama said, it's a higher risk as you get into your thirties) I was sent to see a high risk pregnancy specialist. He did a hi-tech ultrasound and took measurements of he neck and every bone, looked at his brain, heart...etc. Everything looked very normal, so I decided not to do the amnio. was told that the ultrasound isn't a guarantee, but everything looked so good, that I felt better about the whole situation. My son is now 14 months and perfectly healthy. I have met so many people that got a high risk result. Every one of them had a healthy baby.

I have 3 children and the last 2 both were false positives. They're both perfectly healthy and happy. One's 6 and the other is 1. My 9yr old was the only one that came up fine in the test. False positives are amazingly common.

I have had a friend who got a false positive. As I understand it, false positives are very common, which is why my hubby and I opted not to have any testing. Are you in a high-risk category?

I would just do some research - google is filled with reliable sources.

Best wishes.

Yes, after doing the first trimester screening last year, my risk was 1/265 (I was 29 at the time of pregnancy). My OB also told me not too worry too much, as the risk was still extremely low. However I was so worried and nervous, my husband and I chose to go ahead and have an amnio done as we wanted to be prepared if our child was going to have special needs. I had the amnio in the morning and opted for the FISH results, which we received that same day in the afternoon. Thankfully everything turned out fine.

Best of luck to you.

Hi,
Yes, I had the false positive result, too -- it made me worry like crazy, and then I went through the amnio which was super stressful only to find out the baby (my first) was fine. I think false positives are fairly common, and if your doctor seems calm then you should too! Good luck, I feel your stress...

I had a quad screening at 14 weeks and it came back as a 1/18 chance for Down's Syndrome. I was freaking out. (this was a month ago!) All I did was cry and be depressed. I was referred to a perinatologist for a level 2 ultrasound and genetic counseling. After my health history was taken (22 and perfectly healthy, with a perfectly fine 17 month old) and my level 2 showed NO markers for Down's, the doctor decided to do another quad screening because my ultrasound showed that my due date was off by 2 weeks. After the second quad screen, my results were 1/200. Still not good enough and I was still a nervous wreck. I had an amnio done last week and my FISH results came back as normal. It was such a relief. Your odds are less than .05% for having a Baby with Down's. If you are a worryier like myself, get the amnio. They are 100% accurate and will give you SO much peace of mind. I was to the point where I couldn't enjoy my pregnancy. I will never have another genetic test ever again. The false positive rates are ridiculous!

I hope this helps...But if someone told you if you buy this lottery ticket you have a 1 in 250 chance in winning what would you say? If your like most people you would say yea right I'll never win....Well look at this like that don't stress so much about it. Pray for you and your little one and put it in GODs hands. Good Luck to you. Please enjoy this time!

I also was given positive results for Down Syndrome in my Quad Screen Test. My results were 1/127. I went to genetic counceling and had a level 2 ultrasound to see if any soft markers could be found.
From what I have read, many people receive false positives with the screening tests, nuchal translucentcy testing and even level 2 ultrasound. The only way to know for sure would be CVS testing or an amniocentesis, both carry the risk of miscarriage. The rate of false positive (from and online source) is 40/1000 people recieve positives and 1-2 people out of those 40 have children with Down syndrome. That is a very small percentile. That is 0.002%.

If you would like to go further with testing, you can ask for the triple/ quad screening (bloodwork) or ask to have a level 2 ultrasound. They will schedule this closer to 18-20wks though. The amnio can be done between 20-22 wks. Make sure that your doctor sends you to genetic counceling as it will help you understand what down syndrome is and how it will affect your child (should that be the outcome).

Good luck. You can contact
me if you need to chat!

my doctor said these tests have a lot of false positives. since it wasnt going to make a difference for me either way we opted to not have them done. If it is a factor for you deciding on keeping the pregnancy then i would speak further to your doc if not stop stressing that isnt good for the baby!

Yes. Mine came back like that too. No down syndrome. Your age is automatically figured into the test, so if you are older than 35, your screen will always come back positive.

No need to worry anyway, worry won't change a thing, and you will love this baby no matter what. Would you bet the house on a 1 in 227 chance that you would win? Probably not. You run a higher risk of other things than down syndrome just by having a baby, but that probably won't happen either so don't worry.

Trust your OB, let it go like it never happened unless you get further confirmation, and don't stress about getting the confirmation. It will be fine.

M.

As some previous posters said....try thinking of it as your baby has a 226/227 chance of NOT having Down Syndrome.

You will get results like that if they screen too early. Everything I was reading last time I was pregnant said that screenings should be done into the second trimester around 16-18 weeks I think it was.

The same thing happened to me and a few friends of mine and all ended up being false positives.

Hi,
My cousin was told her baby had a high chance of having down syndrome early in her pregnancy. It made her so worried. However, baby Averi turned out just fine. She's now 5 and healthy as a horse, so to speak.

I was 39 years old and had a false positive... basically I prayed a lot until the amnio said my little girl was healthy, then I prayed more in thanks.

I will keep you in my prayers...

I had a false positive. Those where about my numbers. I had an amnio and EVERYTHING was fine. It is a very difficult couple of weeks. If you are going to get an amnio or have any questions or just need some support, send me a message. I had a fair amount of info once we saw the genetic counselor. Once it happens to you, you will start hearing about so many other false positives. Hang in there.

I know exaclty what you are going through. My test came back 1 in 154. I was very worried and scared. My doctor tried to rest my fears by sending me to an in depth ultrasound done by a high risk pregnancy doctor. Everything looked great and it did ease my fears.
I am happy to say that my healthy baby girl will be turning 1 in 3 weeks. I hope this helps.
Enjoy your pregnancy, good luck and best wishes. I'm sure things will be fine.

I had a test w/ numbers that were similar. I too was so worried. Had the amnio (I was 35) and all was perfectly fine. My daughter is now 15, healthy, smart and fun.
Good luck!
**I think it's important for us to realize that the numbers are just odds/chances and level of possibility.**

If you are still concerned ask your doc about doing CVS. It is done much sooner than amnio and can give you certainty. I can't remember the time frame for it but I think it is usually done from weeks 10-12. You might have missed the window but worth asking about. Some will say it is riskier to the baby than amnio but my doc's stats where the same for amnio and cvs. You just need to find someone who does it as their main practice. If you are not able to do CVS sounds like from the other posts you are probably fine. Good luck!

I have three children - four pregnancies. My fourth received a false positive 29/237 if I remember correctly. I was 34. Due to a previous still birth I was considered a high risk pregnancy, I had a level II ultrasound where they found the umbilical cord to have one artery. We were sent to a genetic counselor who discussed what seemed like a dozen birth defects that we could be facing. We were given the choice of an amniocentesis and elected not to have the procedure. At 32 weeks the baby was not moving as frequently as my other two children. My daughter was delivered by c-section two months premature. The real issue was a true knot in the umbilical cord. My daughter is now 15 and was born without any health issues. I am glad I went with what I felt in my heart!

This test that you are referring to does not yield "False positives". It does not tell you definetly either way. It just tells you what your chances are. And if you are in the higher ranges like you are, it is reccomended that you get further testing that is more definitive. My SIL had this test, and got like 1/30, which is like almost a guarantee that the baby had downs. She had an amio and the baby is 100 percent fine. I am pretty certain yours will be too. I know its hard not to worry though. :)

These tests are a part of what they call a triple test or quad screen. It sounds like your in the initial stages of screening.. At around 15-18 you should get more blood drawn and have an US done where they take measurements of fetus. These results are then added to your first round of results to come up with a cumulative risk. At 41 I started out at a 1 in 77 chances and after ALL tests combined it went to a 1 in 23,765. I wouldnt worry about it yet until you get all tests done. Also you didnt mention your age - that will of coarse affect your chances.

Yup - my risk for baby #3 was 1/150, I had an amnio and all is fine. My risk for baby #1 (when I was younger, obviously) was 1/30, had an amnio and it was discovered my son has an extra Y chromosome. He's now 6 and is fine, it's one of the more minor chromosomal abnormalities! With son #2 I just went straight for CVS and all chromosomes were normal. I do the testing for peace of mind, I had no intention to end any of my pregnancies if the results came back positive for Down's, only to be prepared. Getting the final, definitive results really put my mind at ease and in the case of my XYY son, allowed me to extensively research the issue and be educated about what issues we needed to look out for in the future. If you are a worrier, I would have the amnio and know what's going on for sure Don't worry and good luck!

Not personal experience, but friend of a friend kind of thing... So my friend's friend has four kids... Came back with even stronger possibilites on the first three--all were perfect babies. For the fourth they didn't even do the test. Chin up! There will be more information at your 20 week ultrasound, so try not to worry till you KNOW there's something to worry about.

Try not to worry! It's not a definitive test. My doctor told me to absolutely DO NOT think in terms of positive or negative, because these tests are NOT a diagnosis. They only assess your risk for having a child with Down's or Trisomy 18/13 (therefore there can be no positives or negatives. Even if your test comes back 1 in 10,000 you could still have a child with one of these). To get a diagnosis you would have to have a CVS (I think it's called a Chronic Villus Sampling) or an amniocentesis.

At 38, just by my age alone, my risk for Down's was 1 in 84, but after a Nuchal Translucency test, it went down to 1 in 150. When I thought about it, that's just a .006% chance of having a child with Down's. (Trisomy 18 was only 1 in 4900.). While the 1/150 isn't great, we chose not to go through with the invasive CVS or amnio tests, because at this point it doesn't change anything - we're having the baby. We'll just be a little more mentally prepared for what MIGHT be, but has only a .006% chance of actually happening.

If you truly do want to know for sure, have the CVS or an amnio. But these tests, too, have their risks for causing miscarriages. Which is why we chose not to have them done. My doctor said the miscarriage risk with the CVS was 1 in 200, and the amnio was 1 in 2000. THOSE odds we worried about! He did not recommend either, instead said it was our choice, but if my risk of Down's or a Trisomy was more like 1/10, then that would be the time to absolutely have it done.

Again, try not to worry or stress about it! Neither you nor your baby need that right now! Just think about how much you'll love him or her no matter what :)

One thing to keep in mind is what that number really means in terms of odds. They really scare you with statistics especially as you get older, saying things like your chances of having a baby with a chromosomal issue is 500 times greater over 35 than if you were 20 (I'm making that number up, but it's really big). Well, that said, if your chances at 35 are 1/100 instead of 1/3000 that means there is a NINETY NINE percent chance your baby is fine! Still good betting odds! Focus on the positive until you can have the next round of tests or level 2 ultrasound that will give you more information. There are a million things that can go wrong in pregnancy, but the vast, vast majority of the time, everything goes amazingly, miraculously perfectly.

Hi A.,
I was an older mom because I was over 35 with both my deliveries. Among my mommy friends I know that false positives happen. You need to know what you would do if the child was confirmed to have Down Syndrome. If that condition is something you and your family can accept and deal with through your faith, belief in fate or anything else, then just wait for the child to arrive. Pray or get more information.
My kids were normal in the length of their limbs and all the other things and I was almost 39 when I delivered my son. We got lucky. Now, he is just learning how to be a dare devil at age 4. We'll see how long that lasts. I hope that helps.

L. L.

YES and I think this happens to so many people. The chance of your baby having Down Syndrome, while not impossible, is VERY unlikely. It really is quite rare. In my first pregnancy I had "normal" results from my first trimester screening - I think it was something like 1/500. But I got a call from my OB after having my first trimester screening for my 2nd baby and he said that our numbers went in a direction that he doesn't like to see. He said my number was 1/54. I was freaking out.

My husband and I knew we wouldn't terminate the pregnancy no matter what, but we wanted to know as soon as possible whether our baby had any chromosomal abnormalities so that we could best prepare ourselves in the event that our child had special needs. I opted for a CVS (chorionic villus sampling) at 13 weeks instead of waiting until 16 weeks for an Amnio. Northwestern in Chicago is where my OB is and they got me in for the CVS 2 days after I got my screening results. We opted for the FISH (super fast results) and within a couple of days I got the call I was waiting on absolute pins and needles for. My baby was perfect, and it was a girl (they give you the option to find out the sex too). So no more worrying for the rest of the pregnancy. She just turned a year old too, and she's perfect. :)

I had a false positive. Worried my entire pregnancy. Was monitored like crazy. Ultrasounds didn't show any reason to believe there was a problem with the baby and there wasn't. He's perfect. Next time I will not have the screening. Too much needless worrying. What I continued to try to tell myself was that results said I had a less than 1% chance of having a baby with Down syndrome. And I believe that even those who tested negative still have a less than 1% chance. So try not to worry. It seems that false positives happen a lot. Just try to think positive thoughts about your beautiful, healthy baby.