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Positive Quad Screen

4440 Views 14 Replies 13 Participants Last post by  staceychev
Hi Mamas,

Has anyone had a positive quad screen (for down's/CF/NTD?)

My doctor called this week and told me we tested positive and now we are off to a large hospital with a perinatologist for genetic counseling and a level 2 ultrasound and possible (our choice) ammnio...

Anyone out there in the same boat or have past or known experiences with making choices- investing in these results??

Pretty lost,

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My friend tested positive, then went in for the amnio and everything was fine. She was relieved to get the amnio...she wanted to know the answer for sure.

I believe there is a pretty big false-positive rate with some of the screening tests. Check online or in your pregnancy books--there should be some information about it.
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The quad screen is a screen, not a test, so it can't tell you a whole lot all by itself. There should be a number attached to that "positive," I'd definitely ask for it before going into a discussion with anyone. What that number essentially means is, "1 woman out of every x who has similar data to yours had an affected baby." Depending on your age, your OB, and your lab, you could be "positive" if your rate is 1:250 (=less than .5% chance). That still isn't a "false positive," but it can cause a lot of alarm where maybe you'd be comfortable with that risk level. Or you could be one of the few in the 1:2 or 1:4 groups, and that might be considerably less comfortable for you.
With this screening, you aren't exactly testing 'positive' as it's saying you have a higher risk level than normal.

With both my dd's pregnancy and current I tested as higher risk (1:120, and this one 1:10). We did see a genetic counselor the first time, never had an amnio with either. Personally, knowing for sure would have been significantly harder on me (and btw, dd had none of the issues the test is for. Don't know for sure about this babe, though we did have additional ultrasounds and those didn't show any other signs for any condition).

When I've gone about looking up more information about the quad screen you do find that it does have a pretty high 'false positive', and there are a variety of things that affect the accuracy of your results - including being vegetarian (which applies to me), and having had a previous high risk test. Your results don't automatically mean that your babe has any condition for sure, so try to be as unworried about it as you can manage
. Spend some more time finding out about the test, and a meeting with a genetic counselor should help with your decisions.
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i didn't get a positive test but we did get concerning results from an 18 week ultrasound that led us into the genetic counseling route as well. i decided that i needed to have an amnio to reduce my anxiety one way or the other. the result wasn't going to make a change in keeping the pregnancy but i felt like i would be so anxious with the remaining part of my pregnancy if i didn't find out. i'm not one who likes to live in the unknown so knowing for sure really helped me out.

we decided that the risk of miscarriage was so low for amnio and our risks of chromosomal problems was much higher that it made the decision more clear cut which way to go.

i guess you need to make a decision about how you handle information. can you continue the pregnancy without knowing and not have any negative impact as a result or are you someone who needs to have the information? good luck in your process and decision making.
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I opted against it with this pregnancy because of my past experience with it. I tested at 1 in 39 chance of Downs with my daughter. My OB tried to strong-arm me into an amnio without a level 2 ultrasound even though I told her I wouldn't terminate either way. That's how I ended up with my midwife...

Anyway, there's a higher rate of "false positives" because, as a PP stated, it's a screening and not a test. I also remember reading somewhere when I was pregnant with DD that the rate of false positives is even higher if the fetus is female. We did a L2 ultrasound with a fetal medicine doc, and had genetic screening, and were comfortable with our decision.

DD was born without any genetic abnormalities that we're aware of.
s mamma. i found this site, the american pregnancy association, to be really helpful, because it explains in depth all the tests and screenings, and why you might consider or not consider them.

after reading through it, i decided against testing that i felt would be inconclusive, since i wasn't planning to terminate for any reason. of course you're in a different situation now, but maybe knowing your end course (willingness to consider termination or not, and under what circumstances) will help you know how to proceed in regards to further testing.

keep us posted!
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I had a high Down's probability - something like 1:140. I followed with the CVS testing and that result showed no Down's.
I got a high result (positive) and went in for a level 2 u/s. they confirmed a fatal NTD sadly. I have heard many instances though where a positive comes up and everything is fine. good luck.
I got a "postive" result for a NTD with my DS last pregnancy, went for amnio and all was totally fine. I was pretty sure I would opt out of the test this time around but ended up choosing to get it again. I don't have the results yet. The hard part for me is that amnio is only available in Vancouver which is an 8 hour drive away.

Actually hearing that you have a higher risk level is scary but for me knowing for sure was better than wondering for months. On the hand, I found the amnio to be quite emotionally difficult as I felt quite crampy afterward and was very worried that I'd miscarry. All the best to you. Remember that most often with an elevated risk, the baby is completly fine.
I had "concerning results" on my 18 week u/s. They found a bright spot on DS's heart that could correlat with down's. I was unsure about how to proceed, because the quad screen does produce a high rate of "false positives". DH and I decided to get it because it was the least invasive of our options. Luckily, it came out fine. If the results had not been re-assuring, Dh and I had decided that we would do a level 2 ultrasound and only proceed to the amnio as a last resort. There are several things they can look for on u/s, like shortened leg bones, stuff with the brain, and kidney malformations that will give you a better idea of whether the babe has down's or not (although even these results can be inconclusive).

DH and I were glad that we never had to make the choice about amnio because it would have been a tough one. There was no way we would consider terminating the pregnancy, and I really didn't want to have to deal with m/c risk that comes with amnio.

Here's a happy story for you, though... a co-worker of mine had elevated risk on the quad screen and every indication on a level 2 u/s that the baby would have down's (she never got the amnio). But the baby was born totally normal and fine! Just goes to show, no test is perfect and all have margin for error.
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I had a high risk for Trisomy 18 with my second pregnancy.It freaked me out so much and DH was deployed so it was just me by myself and google.I had the level II U/S but turned down the amnio.From what I had read about Trisomy babies nothing much can be done ahead of time and most are stillborn.A friend of mine who was due around the same time as me had just had a botched procedure and lost the baby and her fertility at 19 based on the testing so I was nervous about doing the amnio and for me any risk was too much.I turned it down.DS was born perfectly healthy and normal.I've never done the screen for any of my other pregnancies.
I'm not sure if I'm allowed to point to a different mothering site, but the prenatal testing board on Baby Center has a lot of good info. I've read articles which talk about which markers tend to be high in which conditions, etc. (Of course, it may be available elsewhere.) Anyways, I recommend checking it out...

As others have said, your results may not be as bad as you think. 1 in 200 or 120 vs. 1 in 2 or 4. Even a Mama with a 1 in 4 chance has a better chance of her baby being genetically "normal" than not.
It has been a week or so since reading or posting so I want to say thank you for everyone who read and responded with so much love, support and concern. I feel so blessed reading your posts and it makes me feel better moving forward with our decision.

We asked the doc to repeat the quad screen test and it came back NORMAL (1:710) and I was so happy. The doc says the test is not repeatable and not accurate a second time around (why not?!) So I'm gutted. Then, we did our first u/s since all this began and it suggested choroid plexus cysts and a lemon shaped skull. I was gutted. Then we had our level 2 u/s and no cycts, perfect skull and no soft markers for Downs. I was so happy. Then the perinatologist tells us that 30-50% of babies born with Downs have no soft markers. I'm gutted again.

This is crazy making. Clearly the medical profession is steering me into an amnio. I finally speak with my doc and he steers me away from one due to the risk of losing a healthy pregnancy. The confusion continues... no choice seems like a good one.

I'm trying to trust everything is OK and we just had some wonky results. It is still hard to get those wonky results off my mind.

Thanks again for the hugs, love and good thoughts...

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Good luck with your decisions and the rest of your pregnancy, MJ! I remember all too clearly how you're feeling (which is why I declined all screening other than the u/s this time).

One thing that helped us immensely was to "come to terms" with having a Downs Syndrome child, which meant researching and talking with family and ultimately "making peace" with whatever baby we ended up getting.
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