Down Syndrome Risk, Am I Overreacting?

[Anonymous]

I just received my results from the 12 week triple screen and ultrasound. I was told my results came back in the "normal" range, i.e., lower than the risk for a 35 year old. However, my risk was well above my age group. The median risk for my age group is 1 in 637. My levels were 1 in 304. The hospital said they usually recommend amnio or CVS at levels above 1 in 298. I'm freaking out b/c I'm so close to the cut off. Am I being ridiculous?

[Anonymous]

THIS is why I never do those tests. All you do is freak yourself out. But, since it is already done, and in an effor to be helpful, I will say that I had a friend who did the screen. She was under 35 too, and fell into the range where an amnio was recommended (as opposed to just coming close). The amnio came back fine, and she has a perfectly happy and healthy little girl. She spend a couple weeks freaking out while waiting for results...but alls well that ends well.

[Anonymous]

My test results came back 1:225. Everything above 1:250 would mean an increased risk said my OB. I can honestly say I had sleepless nights because of the whole matter. Would I do an amnio or not? After discussing it with my husband for a week, every night, every single minute we were together, we decided that if it would turn out to be a Down Syndrome baby we would at least like to know so I ended up doing the amnio. You really have to decide what your decision would be if you do an amnio and you will not get the results you were hoping for.
I had my amnio on Monday, was told that results would take at least two weeks but was called three days later with good news! I was really happy and feel I can now really enjoy my pregnancy. I have to admit, getting the results back from the nuchal fold scan and bloodtest was upsetting to me so I know how you feel. Other women I spoke to said I shouldn't do it because my risk was still low (e.g. some come back 1:60). In the end I'm glad that I decided to do the amnio but again, it has to be your choice.
Numbers sreally don't mean anything, a seed was already planted in your head (that's how I experienced it) and you will feel that you are at risk, even if your results are not bad at all.

Good luck!

PS I am from Europe where amnio's are not that common and I felt a little bit ashamed when my OB told me that perhaps in the US people aren't as willing to have an imperfect child. I despise that thought but since I too did the amnio I couldn't help but feel a bit weird about it.

[Anonymous]

OP, it seems you didn't have the nuchal fold at 11 weeks, but went right to the triple screen, which is less accurate. That is interesting because I had a dr. who did not offer the nuchal and I have been mad about it ever since...not to hijack, but after that experience, I did some informal research and it seemed that the nuchal was now standard of care. Am I wrong about this??

As far as numbers are concerned, you need to decide how much anxiety you can tolerate during your pregnancy in order to decide about the amnio. The risk of miscarriage from amnio is even lower than the currently published rates, so it's quite safe.

And to the European poster and her doctor, for some, it might be about not wanting to have an "imperfect child," but I think for most, the considerations are the child's quality of life (i.e. are invasive surgeries needed, will there be ongoing health concerns?) and knowing your own personality/tolerance for having a child with extra needs. Not everyone is cut out to parent a special needs child, and to recognize that is not a bad thing, in my opinion. Financial and emotional resources count, too.

Okay, thanks for letting me throw my 4 cents in.

[Anonymous]

You are not being ridiculous. Getting back those testing results can be *really* upsetting if they are not what you are expecting. I was distraught when I got my results back. I agree with the PP -- once someone has planted a seed of worry in your head, it can be hard to make it go away.

My OB said to keep in mind what the numbers really mean. For example, 1 in 225 equates to a less than 1% chance that there is something wrong. If you were betting money, would you expect to win anything with those odds? Even my number -- 1 in 30 -- works out to about a 3% chance of DS. That's pretty low when you think about it. Oh, and another thing my OB said was that the nuchal fold test can also indicate a heart problem, so we also had a fetal echocardiogram to rule out any heart problems (which are good to know about so you can start talking with cardiologists and such). I opted not to do a CVS or amnio because it wouldn't change the outcome -- I'd still have the baby. For me, knowing for sure before the birth wasn't worth the risk of miscarriage (or a giant needle in my belly). But everyone feels differently and has a different comfort level. Do what you need to do to feel better about the situation.

If it's any consolation, my worries over the test results have been completely eclipsed by the thousands of other things we need to do to get ready for the baby. I haven't worried about it in months.

I wish you all the best during this time of major worry. The worry totally sucks.

[Anonymous]

To PP 19:03

I am the European poster and I want to add that I totally agree with you that it's not just a matter of an 'imperfect' child. I too feel that not everyone is cut out to be a parent of a child with special needs and sometimes your situation just doesn't allow it.
It was just that when the doctor said this about people not wanting an imperfect child (he didn't say and mean it this harsh) I felt like I was doing the amnio for that reason while I know that that's just not the case.

Again, you would have to come to terms with the fact that you either live in anxiety for the rest of your pregnancy or/and at least have decided for yourself what you would do if the results are not what you hope for.

[Anonymous]

19:03 poster is right -- nuchal is now the standard of care, recommended for all women. From what OP says, it sounds like she has the nuchal -- there's no other screening test that would include a US at 12 weeks.

OP, I had a very similar situation to yours, and I decided to do the amnio, for peace of mind. I also knew that I would consider termination for certain conditions.

A couple of things to consider: How were your US results vs. your blood test results? The US is the more reliable portion of the test, so if your nuchal fold measurement was good and your blood work is what drove up the risk, you have even more reason to feel confident. (This was the case for me.)

Bottom line: If you're going to worry about this for the rest of the pregnancy, I'd recommend getting the amnio. If you think you can intellectualize the risk -- as others have pointed out, it's very, very small -- and not worry yourself silly for the next 30 weeks, I'd skip it. That said, I'm a worrier, so I'm really, really glad I did hte amnio.

[Anonymous]

To OP, I agree with all that the PPs say. the risk is still extremely low. But I wanted to add--do you still have time for the CVS? I had a CVS test with #1 and I was happy to have the positive results earlier in the pregnancy. Older statistics state that the Amnio is safer than the CVS, but my understanding is that the CVS now carries about the same risk as the amnio--assuming you go to a well seasoned specialist for the test. I had no problems with mine. I guess my thinking was in the event that I would act on my results, the earlier the better. I guess if it were for information only, the timing may not be as significant--except it could spare a few extra weeks of worrying.

Good luck to you and I wish you a healty pregnancy.

[Anonymous]

OP here. Thanks for the kind words everyone. We did also have a nuchal test, which I believe was normal, but the doctor (not mine I went to GW b/c of the high resolution machine and genetic counselors) was not the most informative or friendly guy. I'm going to call my regular doctor today and discuss the situation with him. Rationally I know the odds are still very very low, but those numbers just weren't what I was expecting. I guess this is the just the start of a lifetime of worry when it comes to the baby! Again, thank you all for your kind words and for not thinking I'm crazy.

[Anonymous]

Keep in mind that nuchal is not definitively diagnostic, rather predictive (i.e., based on statistics). Amnio and CVS are genetic tests which will definitively tell you if there are any genetic abnormalities. That being said, I was 37 when DS #2 was born and I had the nuchal and blood work done which has become the standard of care in the past couple years. try not to worry, but get whatever facts you need to ease your mind (whether it is amino/cvs or info re: statistics on accuracy of nuchal testing-the sono and blood work).

[Anonymous]

OP, not to belabor this, but the risk numbers you've cited are nuchal-type numbers, so I'm guessing what happened is that you had the ultrasound to measure the nuchal fold and then had bloodwork done separately; the numbers you received are the result of a calculation factoring in both US and bloodwork. This absolutely is something to discuss with your OB and, ideally a genetic counselor, who is best positioned to illuminate these numbers.