Blood test results - high chance of downs syndrome x-post w/ddc - Mothering Forums

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#1 of 9 Old 06-19-2007, 03:39 PM - Thread Starter
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I got my blood tests/screenings back today. My test showed that I have a chance of 1 in 27 for having a child with down syndrome. We had a level II Ultra sound with the neonatologist and everything checked out just fine. I'm almost 23 weeks. She will do another at 30 weeks. When she showed me the results of the screening she looked at me really hard for a really long time I guess just waiting for a reaction. I'm OK with it. I'm 39, results like this are statistically higher for older women and I'm OK with whatever comes. We aren't having amnio or anything to confirm downs. I don't think it's necessary. The doctor thinks it more of a risk especially since we would never think to terminate over such a result. It's kind of a weird thing to have hanging over our heads though. Everything looks just fine though. She showed us everything she looks for, what is normal, what would be abnormal. The u/s tech gave us a quick 3-d shot of his face. No tell tale signs.

Has anyone else had results like this or know of anyone with them?
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#2 of 9 Old 06-19-2007, 03:44 PM
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Well I know that a lot of factors contribute to test results coming back high or low chance of down syndrome. I mean if you were 23, the same blood work may combine with age and come back with a 1 in 250 chance. A friend of mine who has an uncle with Down syndrome was told that both her babies (she had in her 20's) had a very high chance of having down syndrome, because the fact that she was over weight, had a family history and something else all contributed to the final result. Being that she had a close relative with DS, she really didn't care and it didn't scare her. Both her boys were born without.
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#3 of 9 Old 06-19-2007, 04:11 PM
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I had the First trimester screen, where they test your blood and measure the baby's nuchal translucency. I was given 1:15 odds and we decided to have a CVS for diagnostic testing. Our baby is fine.

What kind of screen did you do? was it the quad screen?

My poor results caused me to research the heck out of the test, something I should have done before getting it. Basically, for the NT test, 1 in 33 women will screen positive. Out of those who screen positive, about 1 in 35 will have an affected pregnancy. The older you are (I am 35), the more likely you are to screen positive. For my age group, it's 1 in 15, but the ratio of women who have unaffected pregnancies is the same. I've read that false positives are even higher for the quad screen.

something else I found out is that vegetarian women have been found to have naturally high levels of free beta hcg, one the proteins they test in the First screen (not sure if it's tested in the quad screen), so it throws off the results and automatically increases your chances of screening positive. High hcg and low papp-a are found in women whose babies have Down Syndrome.

Anyway, I've read tons and tons of stories of women who received poor results from their screening and went on to have an unaffected child. I really think the odds are in your favor. I know it's hard to relax after being given your results, but I hope you can.

The good thing about an amnio is that it can give you time to prepare for any outcome. I'm not advocating it, just pointing out that it has advantages and isn't meant only for parents who would terminate...

take care...
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#4 of 9 Old 06-19-2007, 05:29 PM
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I wouldn't worry about it personally...

With my first pg we were given increased odds due to the test...did a Level II, looked fine, Gage is fine.

With Lily (my 4th pg) we opted out of the test as we had since those first scary results. We had a couple u/s and everything looked fine. We found out after she was born she has Downs.

So tests can be wrong (unless you do the cvs or amnio of course...though I know one mom on a Downs forum I visit who had an all-clear CVS when her baby did have mosaic Ds)

I will say don't worry so much about Ds. It's scary and heart wrenching and it's hard to let go of the expectations about a "healthy" baby, but it's also not as huge a deal as I'd thought before. And if you've had good u/s scans then likely there are no other problems related to Ds, like heart defects. Learn a bit about it if you feel you want to...but I bet you just had bad test results and your babe is fine

Oh, and I can't believe the pp's friend got such bad info from her doc! Maternal weight has not ONE thing to do with Ds : nor really does a family history. It's usually a total fluke. The only time it can be genetic is if the family member had the rarer type of translocation Down syndrome, and an uncle wouldn't be really close enough a relative to worry that much about (siblings and other children, yes..but only with translocation).

Good luck!!

C ~ mama to (16), (13), (9) (5)

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#5 of 9 Old 06-19-2007, 06:06 PM - Thread Starter
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I think that weight issue is a bit of a weird diagnosis too. I've pretty much given up on all my weight based thoughts because I think it's becoming too prevalent in our society. It's just the reason for everything being bad - let that ugly fat be the scapegoat for everything. Make fat people feel worse!

I've spent a few hours reading about downs. I'm really not concerned. What is, is. At this point the extra chromosomes are there or not. There are so many programs set up to mainstream these kids and to help them. I just look at how it seems every child I've ever seen with downs has a beautiful, sunny disposition.
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#6 of 9 Old 06-19-2007, 10:30 PM
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They told me the same with my middle son, and he's fine. I opted for no testing this time so it won't drive me crazy. If something is wrong, I will either have a baby with something like Downs (and we'll be okay) or I will be able to hold and grieve my baby at home peacefully. So i have found my peace with no tests and no u/s.

Almost a b-ball team: : Taylor -14, Alex -11, Jack -8, Lachlan born at home 11/15/07
"Well behaved women rarely make history"
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#7 of 9 Old 06-20-2007, 09:53 AM
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With my last child at age 38 I was told the same, only trisomy 18, which is far worse than down's syndrome, not compatible with life. It caused us a lot of needless stress and in the end our daughter is absolutely perfect in every way.

There seem to be a lot of false positives with the AFP and had I known I would never have had that test at the time.

This pregnancy I am 42 and I refused all testing except for the level 2 US. This baby is also perfect.
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#8 of 9 Old 06-20-2007, 01:04 PM
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I'm 36 and my OB won't give me the test simply because my age will bump up the positive results. Try not to worry too much...doesn't seem like a reliable test to me!
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#9 of 9 Old 06-20-2007, 01:08 PM
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My first baby was born with a full trisomy (not Down's, and I will spare you the sad details). At first we thought it was just a CHD. I wanted a very low-tech birth but ended up with tests and level ii's and genetic counseling etc. It took away much of the joy of my pregnancy.

Anyway, I have not had any of the screenings for subsequent children. I wouldn't abort if something was wrong, at at my age, the risk of m/c following an u/s is as much a possibility as a positive result.

But if you DO go ahead with more testing and find out something isn't right, feel free to PM me. I would be happy to share our story and all it entailed.

It's probably nothing, though. The odds are definitely in your favor.

ETA: I was only 28 when I had my trisomy baby, so while increased maternal age can be a factor, it can happen at anytime.
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