Anyone Have Info on Down's Syndrome Testing?

Updated on April 27, 2007
J.L. asks from Dallas, TX
20 answers

A friend of mine is pregnant w/ her first child and over the age of 35. She just had the Down's Syndrome genetic test done and the results show her at high risk. The doctor wants her to come back and be re-tested. The test involved a sonogram and blood test. Have any of you all had this test done? Are false-positives normal? Any info you could pass along would be great! Thanks so much!

What can I do next?

  • Add your own comment
  • Ask your own question
  • Join the Mamapedia community
  • as inappropriate
  • this with your friends

So What Happened?

Thank you so much to everyone who responded. This website is really great and there are some amazing women out there! My friend is now a Mamasource member and she greatly appreciates all of the info she received. She will be doing a follow-up test in a couple of weeks, but she feels much better about things after reading all of the replies. Thanks again!!!

Featured Answers

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

K.J.

answers from Dallas on

I was at high risk also and that was 15 1/2 yrs ago they didn't have all the tech. they have now but when I had a sonagram, they told me that on the back of the neck there is an extra flap of skin on a Downs baby, and that is how they told back then. I had three amnio's and they weren't that safe back then don't know about now Good luck

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

L.F.

answers from Dallas on

This test has over a 50% false positive rate. Even my doctor told me to not pay too much attention if the test came back positive. If they refer her to a genetic counsler like they did me, the doctor will take a look at about 6 different things on the sonogram to determine if they see anything abnormal. The look at the size and shape of the head, the length of the arms and legs, the kidneys, the size of the abdomen and a couple of other things. If I had to do it over again, I would have opted to not even have the test.

More Answers

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.V.

answers from Dallas on

False positives are common and the only sure way to test is amnio. I had a high level sonogram and the results indicated nothing on Down Syndrome. The key for your friend is what she will do with that information if she does go thru the testing. I did not and found out when I had my daughter. I can say that holding her and seeing this beautiful baby made it easier for me to accept. My daughter is the joy of my life and after 6 years of infertility struggle, I was not going to make a different decision. If it is positive, I would be happy to talk to her about what raising a child with DS may mean or put her in touch with the right resources.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

L.S.

answers from Dallas on

If this is the triple panel test, it's not 100% by any means. It's simply a calculation that uses your age as a factor. my ob suggested I not have it done and go straight for the amnio if I had any concerns. Only an amnio is going to give you an accurate result regarding trysome (sp?) defects. An amnio will not give you info regarding other defects or problems such as heart, cleft palate, etc. She would need a high res sono for that. Good luck to your friend.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

G.B.

answers from Dallas on

Hi J.,

I was pregnant (after 3 years of intertility drugs....long, long story) at 39 and we had the option of an amno or blood work and we chose the b/w for both me and my dh. All of our b/w came back fine, but we did speak w/a geneologist that told us all the "risks" for "maternal age parents", so we did hear that you get alot of false-positives and they usually are not correct. Yes, I would say go ahead and do the sono and the b/w, it can't hurt and since we had longed and worked some hard for a child, it didn't matter to us at the time if anything would habe been wrong. We had already made up our minds to keep him or her. We did want to know though, so we could be prepared.

Don't stress out about it! Just hope and pray for all things to work out good.

I have a healthy, happy and bright 3 year old boy about to turn 4!!

Good Luck!

G. B.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

C.P.

answers from San Diego on

I've had the test done once each time with both of my pregnancies, they usually perform it around the 13th week. Imm not sure of any false-positives and how normal or abnormal they can be. I think the blood test is to test proteins and things like that - plus many other things I'm sure. During the sonogram they measure the back of the baby's neck, this can help determine if the baby is at risk for any defects. Fortunately, both of my tests came back okay with no risks at all. I wish the best of luck to your friend!!

-Char

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.K.

answers from Dallas on

I was at higher risk with both of mine due to my age and actually tested positive on the triple-screen with my first....it was false; which my doctor informed me was common. The only way to know for sure re: down's is an amnioscentesis. I chose not to risk the 1 in 200 chance of miscarriage with amnio and did a level 2 ultrasound instead. Due to my age (and your friend's), insurance should cover it. It's not guaranteed 100% that they'll identify down's or not, but there are many physical traits that can be picked up on a level 2, plus no risk to the baby.
good luck to your friend!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

I.

answers from Dallas on

I agree with Jaza. My brother has Down. It's not easy sometimes. But of all the diseases and abnormality's I think Down is one of the best. Maybe you think it's a strange thing to say. If you like to talk more about this, please let me know.

I.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

S.M.

answers from Dallas on

I agree with pp Allison. When I was pregnant with my daughter I took that blood test that tells you if your at high risk or whatever it is for DS and mine came back saying my daughter was at high risk. I got all worked up and spent the next week being very upset. When I finally went back to the specialist for a sonogram she told me everything looked perfectly fine. She told me sometimes if you have the blood test done too early or even too late that it can give a false positive result. I even have two friends that this has happened to. Everything should be just fine with your friends baby, she just needs to wait till the she gets the follow up testing done. I know the wait is VERY hard though.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

S.R.

answers from Dallas on

My doctor doesn't even recommend the blood test because of the high false/positives. He put it this way unless you plan on aborting if something is wrong then their is no point in getting the test. Pray for a healthy baby and if the baby does have something you never know it could turn out to be a blessing.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

H.M.

answers from Dallas on

yes, false positives are normal. I took the triple screen test when I was pregnant with our first (the same test is used to spot down's syndrome), and they told me that they baby more than likely had spina bifida (actually, they told me that she did have spina bifida and that they test was never wrong). I was so scared that I went into their office that day to do the amnio. After 10 days of a long angonizing wait, the amnio came back negative for spina bifida. After that ordeal, I started checking out different web-sites & info on the test, and it really is not that reliable. When I was pregnant with our second baby, I decided not to do the test at all- I just don't need that kind of stress. And, I knew I would love the baby regardless. I now have 2 healthy little girls. I don't know what test exactly she had because you didn't mention what it is specifically called, but I just know from my experience not to get too upset over the tests until the 2nd test results are out- or even better- until the baby is here & you'll know for yourself. I hope this helps!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.R.

answers from Dallas on

I am 39 and had a amnio done which was positive for DS. My baby boy Andrew has DS and it was the best thing thst happened to my family. Don't fret, DS is a wonderful thing! You sound so concerned about the baby being DS, that should be the least of your worries! The health of the baby and be happy is the most important!! Good Luck!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

V.

answers from Dallas on

Hi J.,
I am pregnant with my 3rd child and over 35. I too had the blood test and it came back positive for downs. I had an amnio done to further confirm whether or not we would be having a special needs child (terminating the pregnancy was never an option for us)to further prepare.
Anyway, all the results came back normal so I think a false positive is more common than not when a woman is over 35. My doctor actually told me not to panic when the results came back positive because chances of them coming back positve was very likely.
Hope this little bit of information helps.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

A.G.

answers from Dallas on

I was 35 when I was pregnant with my second. My first blood tests came out high risk so my doctor suggested a amnio and a 4D sonogram. I went to a specialist for my amnio and she confirmed that my daughter was fine. It really depends on what your friend would do if she found out negative vs. positive results. I would rather know in order to educate myself if I was having a baby with DS. Also, if you know in advance, there could be some medical treatments they could do in utero and also they can prepare better for her delivery.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.M.

answers from Dallas on

How many week is she along? I was over 35 with my second child. There is a special, more non-invasive ultrasound specifically for down's to measure a few specific areas that I had done with my second child, but it has to be done really early. My first set of tests with my first child came back suspicious for down's, and so I had an advanced ultrasound and amniocentesis done. The test was a false positive, which you can know for sure if you have the abdominocentesis done. If you have anymore questions, feel free to ask. Hope this helps! -JM

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

A.H.

answers from Dallas on

i have three friends who received a "high risk" result that ended up being nothing so i think it must be fairly common. one followed up w/ an amnio and the other two did the more in depth sonograms w/ specialists.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

H.C.

answers from Dallas on

Lots and lots of people come back with high risk blood test the percentage is huge for false positives. When she has the sono she'll know for sure. FYI too its a misconception that women over 35 are at higher risk for downs, percentage wise most downs are born to women under 35. I choose not to even have the test done because I know that a false positive would drive me insane. Tell your friend not to worry.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

K.P.

answers from Dallas on

The test is not 100% reliable; however, in my case it was accurate. I would recommend your friend get an amnio if she really wants to know. Feel free to pass on my contact information if she wants to talk. My son is 15 months old now, and has had several surgeries, including heart surgery. He is now doing well.

Regards,
K.
____@____.com

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

A.

answers from Dallas on

The problem with the quad screen/AFP test is that it gives you numbers, but they really aren't definitive. For example, a "normal" test might come back that your chances of having a child with Down's are 1 in 3000, but an elevated risk may be 1 in 50. Someone would call 1 in 50 results positive, although they're not actually positive at all - they're just an elevated risk. That said, there are many people whose tests come back within the elevated range who have perfected normal, Down Syndrome-free children. There are also people whose tests come back within the normal range that end up having a child with Down Syndrome (my sister is one of them).

The next sonogram will be detailed, and they'll check for certain markers of Down's Syndrome. Four of the big ones are:
- the thickness of the nucheal fold (the back of the neck)
- the length of the femur
- the four chambers of the heart (many children with DS have heart defects, so you want to see all four chambers of the heart in a U/S)
- the internal organs (many children with DS have other issues with organs, so they want to see all of the organs - stomach, kidneys, bladder)

It's really scary to get that elevated risk, but there are many, many people who have an elevated risk but have perfectly normal children. Tell your friend to keep away from the internet horror stories, because the internet can feed you lots of scary information. Tell her to stay positive, because her baby is probably fine. And even if her baby does have Down's, as scary a diagnosis as it is, the children are amazingly wonderful.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.W.

answers from Dallas on

You know I have not thought about it in a long time, my "high risk pregnacy" in now a normal happy helthy 22 month old boy. That test situation was a learning expericane, I will never allow myself to be tested for that again. I rember getting the phone call that morning that we were to leave on vacation. I was 5 months pregnant. And the worry and the heart ache is instant. It was all for no reason. The margin of error in that screaning test is SOOO high.

Next question: Scheduled for the Sequential Screen Test at 12 Weeks...