Quad Screening Came Back Positive for down Syndrome

Updated on April 13, 2010
K.J. asks from Cuero, TX
18 answers

I just found out that my quad test came back positive. I have to go see a specalist and get an ultrasound or Sonogram to make sure. I have been scared and worrying ever since..If anyone has experience this type of situation can you please let me know.

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I want to thank everyone for their advice. I will keep you posted and let you know what happens.

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M.T.

answers from New York on

This screening doesn't have positives or negatives. It is not a diagnostic test at all, it simply identifies moms at a higher risk of having a baby with certain disorders. This isn't really explained to most women before they have the test. Your baby has not tested positive for Down Syndrome, you have been identified as being at higher than normal risk that your baby falls into this category. The majority of babies identified thru this screening don't have Down Syndrome - it's not a false positive because this screening isn't a test for Down Sydrome.

Fingers crossed for you.

2 moms found this helpful
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M.E.

answers from College Station on

OMG! I could have written this post almost exactly! Here's what I learned from my experience. I hope it helps you.

First, as other posters have told you the Quad Screen is not a yes/no type of test. It tell you the probability, usually reported as 1:35 or 1:5 or 1:250. This is why you can still get told test came back positive and not have a baby with Downs because what they really were telling you was you have a high chance (say 1 in 5) as opposed to definitively yes or not. On the flip side it's also why you can be told you are okay - no Downs and your child still have Downs because really what you had was a 1 in 1,000 chance .

When I did the Quad Screen with my daughter I was told we had a 1:35 chance. I freaked out and couldn't think about much else. Thank heaven my OB sent me to a perinatologist and genetic counselor and I got scheduled quickly or I might have made my husband crazy with worry otherwise. The perinatologist did a high quality (super-fancy, really sensitive machine) ultrasound and said none of the visual markers that would indicate Downs were there, but he gave me the option of doing amniocentesis. After meeting with the genetic counselor (same office/same day) I said lets do it - even though our family trees were not indicative. I needed to know conclusively one way or the other before I had a child in my arms. I was keeping the baby but I needed to figure out what resources were available, what to expect, etc. Aminocentesis wasn't a scary experience for me - yes the needle was big - but I was so excited to be watching this high quality video of my little girl moving around (they keep the ultrasound on while drawing the fluid) that I didn't really notice that I was getting stuck. I would say do not skip it just because you are scared of the needle. The genetic analysis they did confirmed that she did not have Downs Syndrome. I will admit that I needed this decisive kind of testing to relax and be able to enjoy the rest of the pregnancy. For me doing the test to get the information was what I needed to have peace of mind and not be all stressed out. If you need peace of mind you may also want to do amniocentesis.

And to anticipate reactions to this post. Yes I was very lucky that my insurance company paid for the visit to the specialist (with just a $25 office copay) and for the whole genetic counseling/testing (with a separate $25 or $50 copay). I realize that depending on your insurance you might not get so lucky, but it might be worth calling them and asking especially if your OB refers you. Second, yes amniocentesis can increase the risk of miscarriage although the exact numbers vary. I asked about this at the office and they said well there are sort of overall numbers, but we believe our numbers are closer to 1:500. I was prepared to trust God and take the risk on this, but I know not everyone would agree.

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J.T.

answers from Victoria on

my first cousin ( who was from Cuero btw )was told her son would have downs. even on the ultra sound it seemed like he would have it. he was born healthy and fine , no downs. he is now seven and doing wonderfuly. please keep praying about this. that God gived you the strength to deal with what ever is coming your way.

1 mom found this helpful
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J.L.

answers from Seattle on

The quad test is not diagnostic. That is, it doesn't tell you if your baby has downs . . . it only tells you if your baby is statistically more likely to have downs. The only way to know for sure is to have a diagnostic test, such as an amniocentesis. Your doctor should give you a recommendation on what to do next, but ultimately it's up to you. If you want peace of mind knowing for sure, you should go ahead with the diagnostic testing. Make sure your doc answers all of your questions and do plenty of research to make sure you are well informed.

I don't know anything about having a baby with downs, but no matter the outcome, I hope everything works out for the best.

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J.B.

answers from Atlanta on

The others are correct. The quad screen doesn't say for sure that your baby has Down's Syndrome. It only can say there may be a higher likelihood. The only two tests that can tell you for sure are CVS testing or amniocentesis.

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P.R.

answers from New York on

Talk to your OBGYN as the quad test is a screening test, not 100% accurate. It shows you are at increased risk and you may want to consider additional testing to confirm if there is DS.

http://www.americanpregnancy.org/prenataltesting/quadscre...

Depending on how far you are, these could be a NT ultrasound (non-invasive, usually at 12 weeks), CVS (sampling of placenta, around 10-12 weeks) or amnio.

There is more information here:

NT - http://www.babycenter.ca/pregnancy/antenatalhealth/scans/...
CVS
http://www.babycenter.com/0_chorionic-villus-sampling-cvs...
amnio -
http://www.babycenter.com/0_amniocentesis_327.bc

It might also be a good idea to have your OBGYN refer you to a genetic counselor to see what your risk factors are for DS - it increases with age. Other factors are considered but this might ge you an idea:

http://pregnancy.about.com/cs/downsyndrome/l/bldownssyn.htm

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A.M.

answers from College Station on

This is not horrible! It could come back that the test was wrong (my doc said not to get it bc it has a chance of coming back wrong and worring the mother to death! I would suggest you pray if you are religious... Praying has done wonders with many people and even is helping my nieces (declared brain dead wouldnt last the night) They are now moving around and they were never supposed to do that EVER! Think positive bc even if your child does have it they are a wonderful gift to have! Good luck!

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B.P.

answers from Houston on

I did not have the quad screening done this time around with my pregnancy. I got a lot of grief from it but just didn't want to have to worry needlessly if it came back positive with nothing wrong.

If you are concerned you can go to the genetic counselor, US, and amnio. However, don't let the medical staff pressure you into getting it. My first OB this pregnancy even tried to scare me into getting the screening saying that if would be helpful to have someone on standby just in case at the hospital if the test came back positive, for support and further testing of the baby.

I'm not 31 weeks and happy I didn't get the test.

I have a friend that tested positive during her pregnancy and turned out to have a healthy baby boy - no problems or genetic problems. She wishes she would NOT have had the testing either.

Good luck!

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K.S.

answers from Minneapolis on

Yes - Very same thing happened to me. Quad screens have a very high false-positive rate. Some of this is due to the fact that even the best science isn't perfect. The other reason is the results are sooooo reliant on extremely precise dating of conception. Off by 24 hours and your quad screen results come back positive.

Anyhoooo....We went in for a high level ultrasound AND amnio. I am information addict though and knew I wouldn't be satisfied with the high level US. However, that said, the tech and our OB were there walking us through EVERY marker they were looking for. I seem to recall there were 10...Length of the pinky...Space between the eyes...Etc. They didn't find a single marker via US. Which may have have been plenty comfort for most. We followed the US with an amnio. Piece of cake. We got the FSH results back in 24 hours and complete results within a few days

Oh - And right before the US & amnio, we met with a genetic counselor. She plotted out of family tree and was able to assure us that despite the quad screen our chances were slim.

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S.K.

answers from Minneapolis on

I didn't get this test done as I heard it can have false-positives. I didn't want any more stress as my first trimester was already pretty stressful for M..

I think your doctor will ask you to take the next test , but that doesn't confirm anything either.I think they will give you what are the chances that the baby will be born with Down's or not. A lot of people who are high risk end up having normal healthy babies and vice versa. I had posted a question asking if other mom's recommend it or not. You have already taken the test but maybe there is some useful information for you in the replies.

http://www.mamapedia.com/questions/11889703838157963265

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M.R.

answers from Columbus on

I think there are some factors, like your age, that they figure into the quad results. We refused amnio, because my (then tripple screen) came back possitive. When we looked into it, my age would have tipped it possitive no matter what they found.

If you want to go and find out more, then go have another ultrasound or sonagram, but you certainly do not have to. If you refuse, you can count on being hounded about it for the rest of your pregnancy, I went to the hospital with a card that said "refused amniocentisis" that I had to show when I checked in.

Since we were not going to abort the baby if they confirmed downs, we did not think that it was worth the risk, event though they told us that the test somehow justified us taking the small 1-2% risk of miscarrage. You have to ask yourself these questions too, if they do reccomend amnio.

Downs is not the end of the world, but only you can decide if you want to know for sure. If downs is all they suspect, there is nothing you can do to change that condition, so having this test is either about giving you time to get used to it, or giving you time to terminate. For the record, my child did not have downs, so every possitive is not going to lead to heart break.

Good luck.

M.

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E.H.

answers from Houston on

Hi K.-Please do not worry! I came home after a "positive" diagnosis for Trisomy 18 with my daughter and my husband and I left the hospital in tears and scheduled a Level 2 ultrasound, not knowing what to expect. After much research on this test, there are more false positives readings than there are negatives. This test is based on the number of weeks you are pregnant and where certain levels should be, so if you are just a few weeks off on your due date, the whole test is not valid. I was so upset at my doctor for not giving me this information that I immediately left her and switched doctors. My new doctor explained the test, then waited a few weeks, retested me, and everything came back perfect!!! So, please do not worry, I know so many Moms that have been through this and everything has always been perfectly fine!! God Bless You and Your Family-Elizabeth

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T.H.

answers from Kansas City on

I know two people who had positives and both had healthy non-downs babies. Hang in there and wait for the more accurate test!

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S.T.

answers from Kansas City on

ok if this is the triple negative or the blood test that they take it really can't tell you either way with my daughter who is now 3 mine came back positive also and I had to go to a genetics specialist and get a 4D sono done. I didn't realize that you didn't have to have this test done was never given the option. I was a little mad and thought that they scared me more than anything. Everything turned out just fine with my daughter. If you don't care weather or not it has downs (meaning if your going to go ahead with it) than I wouldn't go to the specialist. Good Luck and God Bless

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M.G.

answers from San Antonio on

Every child is a blessing from God. I say don't worry about it until you find out for sure and then deal with it. Although I know that Down Syndrome can be difficult to deal with at times, but I have a friend who manages well. You learn to adapt like you would with any child. You may have a few more challenges, but who's to say that my perfect 16 month old doesn't grow up to be a terror when she is a teen. My prayers are with you, but God has your life planned and you don't really have a choice. May your child be loved no matter healthy or disabled.

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J.C.

answers from Anchorage on

No need to worry yet. There are so many false positives on this test it is not even funny, in fact some do not recommend the test for that very reason. Get an amniocentesis or a 4D scan of the facial features, and that will let you know if you have anything to be concerned about. When mine come out positive I freaked, then I learned the truth about the test, got the amnio done and I now have a perfectly healthy little boy.

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L.G.

answers from Austin on

Please do not think it is the end of the world. As others have told you, it doesn't necessarily mean your baby has Down Syndrome. But having a friend whose down syndrome son has just turned 18, I have to tell you that he is the greatest joy. He seems to only see the positive in people and in every situation. For example, when we were at their house last, he enjoyed setting the table and took such pride in it. I thought about how my kids whined and complained so often when asked to do something. Here is a story I read a long time ago in Dear Abby:

http://www.advocateforspecialneeds.com/A_Trip_To_Holland....

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S.H.

answers from Honolulu on

I would think they would suggest an Amniocentesis?
And they usually will refer you to a Genetic Counselor... to inform you of the procedures and what the tests mean...

All the best,
Susan

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