Thinking of doing amniocentesis

[hairpin]

I got my first ultrasound today. While it was exciting to see the heartbeat and my baby kicking, my screening for downs syndrome came back higher than what's considered normal. Actually my rating didn't drop that much. But I'm 33 and my effective rating puts me in the 35 year old range, so the counselor listed amnio as an option.

To look at this positively... if I get amnio done and nothing is wrong, at least I don't have to pay for it since it's covered on my insurance now that I've had bad scores on my screening.

Anyways, I was wondering if anyone out there had any thoughts or wisdom to share.

[aprilushka]

I would first ask-- are the odds of the baby having DS equal to the odds of losing the baby due to an amnio? Amnio carries a miscarriage rate of typically 1 in 200, but sometimes higher, sometimes a little lower. The odds of a 35 year old woman giving birth to a DS baby is 1 in 270. So almost always the risk of miscarriage is higher with amnio than the risk of a 35 year old woman having a DS baby.

Secondly, I assume this is a triple screen test. If so, then 5% of positive results are false. Almost all the positive results (including false and true positives) do not mean DS is present-- like 98%.

Finally, consider what you would do with the information. If you know you would not abort the baby anyway, that consider whether the risk of amnio that could cause miscarriage for the sake of knowing for sure is worth it to you (if it is, that's fine, it's just something to consider).

You can also have a u/s done to see if there are any additional hints at DS from physical charateristics before deciding on an amnio. Of course, u/s is a limited tool.

I personally decided not to do the triple screen this pregnancy because I think it causes needless worry for a risk that even with a positive result is so low.

There are a number of threads on MDC where this has been discussed, just do a search under "triple screen" and "amnio".

[Kirsten]

The triple/quad screen is notoriously bad. My midwives told me it was an option but they didn't recommend it. I skipped it all three times (had my babies at 27, 31 and 34). I wasn't willing to risk miscarriage by having an amnio, just to rule out the bad results of the quad screen. Previous poster was right - your odds of miscarriage from amnio are higher than odds that your baby has Down's.

Don't let the results of a higher chance of Down's get to you. It is a faulty test and they never should have given it to you without explaining the high false positive rate. Well, it is not a false positive really, but a higher chance than expected. Forget it and enjoy your pregnancy. I wouldn't have an amnio for any reason really.

[zinemama]

There are a lot of people on this board who will tell you not to do it and give all sorts of reasons why, many of which have a lot of merit. Some have already been mentioned. But ultimately, it comes down to you and what you are comfortable with. Read, be informed, and then make the decision that will give you greatest peace through this pregnancy.

[Titus2fam]

aprilushka said everything on my heart PERFECTLY, however zinemama probably said the right thing. (((((HUGS))))) sandi

[Black Orchid]

Isn't this too early to do the triple sceen? I remember that my OB told me she could not do it prior to 16 weeks because the chance of a false positive is so much higher and the results aren't accurate enough... You might want to check into that before going any further.

To share an experience, I had a friend who was due the same time I was due with my DD. She went through the triple screen because she was 38 at that time. When it came back positive she decided to do the amnio and the 3D u/s. Both came back that her baby would have DS. She continued the pregnancy (after much emotional struggle for her and her DH), educated herself on raising a DS child, and had a special LC lined up to help her nurse a DS baby. When she went in to have the baby, she found that he was a perfectly healthy and non-DS baby boy. So that was just to illustrate how off even the most advanced tests can be.

Zinemama is right on this one. We personally don't do alot of the tests, but ultimately it is up to you and your comfort levels. I hope you get the answers you are looking for!

[bri276]

unless you would want to have an abortion, (which I don't judge anyonw for) I wouldn't do it. my baby has a chromosomal disorder and I'm just really glad I didn't risk my pregnancy by doing a test to find out something I couldn't have done anything about. I love her more than anything and her safety is my 1st priority. Also, the stress of handling that information is extreme. When you have your adorable baby there to distract you and brighten your life it's easier to take I think. Though if you would choose to continue the pregnancy anyways, it might help to start trying to accept the possibility of DS now.

[2+twins]

It *is* too early to do the triple screen - that's a VERY time sensitive "screen" (note, not a "test" b/c results are only to be used as an indicator to possibility, not a positive yes or no result as in a test). So I wonder too, what type of screening was done? There's a lot to consider before doing an amnio. Like a pp mentioned, weigh the risk of m/c against the risk of the baby actually having DS. I thought the statistics for m/c due to amnio were 1 in 100 or 1% but I could be wrong. Research this independently and ask your doctor questions. Second, you need to decide what you'd do with the results. Would you opt to abort? If the answer is yes, then doing the amnio is probably the right thing for you. However, it's important to remember that an amnio cannot tell you to what degree your child would be affected. It can only tell you whether or not the child carries the extra chromosome. So your child could be very minimally affected, somewhere in the middle, or seriously impaired as a result. Also, an amnio - while unlikely - CAN give you a false result. So there's the ever-so-slight possibility that you'll be told, for example, that your child has DS but they indeed did not (or vice versa). So be real confident that whatever choice you make is made with the background of understanding what weight/consequences that choice carries. Another reason to "know" if your child has it - even if abortion is not an option for you - would be to prepare yourself in advance. I've read (and I don't know where but I could search the web if you'd like) a summary from a study which reported that parents were just as able to cope with their DS child if they didn't know in advance of the birth that the child had this condition as if they did know. To me I'd rather not know, b/c if I did I'd spend the remainder of my pregnancy in worry - exactly what I DON'T need. But for you, it may offer peace of mind. Only you can know. I hope this info helps you reach a decision.

[KKmama]

What she may have had done is the super screen... you do a nuchal u/s ~10-12 weeks and do the quad screen then, and then you repeat the quad screen at ~15-16 wks. All together, the accuracy goes way, way up and the "false positives" go way, way down. When you do the nuchal, you get a preliminary estimate of your risk of DS, etc.

Amnio is supposed to be at least 99.5% accurate. While false positives (and false negatives) happen, they are extremely rare.

I will be doing the super screen. I am aware that there are false positives, but I'm comfortable with the fact that it's something which has been designed into the test in order to lower the %age of false negatives. The trade-off between no risk of miscarriage from a blood test in order to get some information is worth it to me. For *me*, prenatal testing is important--I know exactly what I would do with the information. If I got an indication that my risks of a problem were higher than they should be, I would proceed with an amnio, despite knowing that it would likely tell me that nothing was wrong. We're all different.

I agree with zinemama, BTW. She expressed herself very well.

[Lousli]

It is early for the triple screen, but not for the first trimester screen, which is generally done around 11-12 weeks, and includes an ultrasound as well as a blood test. It is much more accurate, although can still give false positive results.

As far as the amnio goes, it can test for other genentic abnormalities besides Down Syndrome, such as trisomes 13 and 18, which can be fatal. This is information that some expectant parents want, and not always because they chose to terminate. Sometimes it can help prepare for the birth of a special needs baby that might need extra care immediately-such as being born in a hospital with an excellent NICU rather than at home. Sometimes it can allow parents to prepare for the worst, in the case of a potentially fatal problem. Or just give them to come to term with having a special needs child. And yes, sometimes it gives people the chance to terminate a pregnancy. That is a deeply personal choice that I won't even go into.

Also, amnio is extremely accurate. The complications are real, and something to think about, but the chances of an amnio being inncorrect are almost nonexistant. The last thing that someone contemplating this procedure needs to worry about is "what if it is wrong?" They look at actual cells from your baby, and look at the chromosomes. With my amnio, they looked at 15 cells. The chances that 15 cells from a baby could all show an extra #13, 18, or 21 chromosome and the baby did not actually have trisomy 13 or 18 or 21 are astronomical.

[riley&me]

Such nice responses, especially the reminder that amnio or CVS tests for lots of things besides Down's - some of which are fatal, some of which there may be a better outcome for the babe if you know, and are prepared at delivery time. But I just had to comment about the supposed healthy baby who tested positive for Downs' yet appeared healthy at birth.

Mosaic down's may be the answer. I've worked with several children who did not have "classic down's" and in most cases - were not actually diagnosed until they started to miss milestones (rather then the regular diagnosis at or shortly after birth). In Mosaic down's not all of the chromosnes have a 3rd 21st, and many of the physical features are not present - unfortunately though, overall development is still impacted. Having said that, I've worked with some pretty amazing families who have children with Down's Syndrome, the potential for the kids is limited only by the dreams of their parents.

Take care with deciding, let me know if you are looking for more concrete "what is it like" info - and if you would consider terminating, you might want to consider CVS if you still have time - as the info. is available so much sooner in the pregnancy.

Good luck,
Celeste

[hairpin]

Thanks for the responses. I've actually been feeling better about this whole process, choosing to be positive instead of worrying. The screening I went through was the combined screen... nuchal translucenty test with bloodwork.

The doctor and counselor I've talked to have been supportive in that they don't make their own recommendations. They simply presented me with options, and stated that I was in the "elevated risk" category.

Anyways, I found out something today that miffed me. The bloodwork portion of the test I did through the mail. I was told to do the test right away and mail it in. HOWEVER, I read later on from various sources that the bloodwork is to be done 11-14 weeks. Being that I was told to do it right away, I did my bloodwork at 9 weeks. I went in and had the ultrasound at the beginning of my 12th week. Now I'm guessing this could have skewed my results enough to drop my scores to the "elevated risk" category. If the people reviewing my data didn't know that the blood was taken at a different time, maybe the analysis was wrong.

Either case, I know I can't sit here and guess about it. I'm just a bit mad. But I will be calling them, as I think if they want to improve accuracy this kind of thing shouldn't be happening.

I will try and figure out the actual numbers later on this evening.

-Kate

[hairpin]

It turns out that the company my hospital uses to analyze the bloodwork, is able to do tests as early as 9 weeks. So the resuslts have not been skewed by my drawing blood at 9.5 weeks. I'm much more calmed down now.

Overall my ultrasound measurements were good, which is something positive to see. Things didn't start to get sour really I think until the doctor started looking at my bloodwork, which shows higher levels of hCG and low levels of protein PAPP-A. I think after they saw the bloodwork, instead of the "congratulations" I was getting earlier, I was getting "good luck".. which really doesn't feel too great. Either way I still feel like I'm in "congratulations" mode, since I'm not taking the bloodwork too seriously. I had a couple rough days there, but now I'm feeling a lot more positive. Besides, hormones do seem to take a nasty toll on me. :LOL

[annikaleigh]

Hairpin,

Just wanted to pop on with a link.

http://www.emmasage.blogspot.com

I believe that you need to make informed decisions and weigh risk/rewards in making choices.

I have only had level II ultrasounds with my last pregnancy, one level one with each of my first three, but forego'd the offered amnio, as I didn't want to risk my unborn baby vs. the knowledge of a chromosomal anomoly.

I knew in my heart of hearts that my youngest child would be born with T21 [Down syndrome] so I prepared myself through my pregnancy with that premonition in mind, knowing that if she did not, I was a much better human being by learning about a chromsomal diviation that I did not know much about before.

If you are interest, my pregnancy, testing and birth story on that topic is located here: http://www.emmasage.org/id9.html

I did have the nuchal translucency test that you just had. My daughters measurement was 3.6mm at 13 weeks [anything over 3.5mm is considered abnormal]. I specifically did not have the ultrasound for this test [actually when the tech was doing our measurements the whole screen process was still in the beta stages] but to measure for dates and rule out twins.....this measuring for nuchal translucency [ie. specifically Down syndrome] was just done by the tech because she had been reading up on it.

If having a test brings you peace, then I'm all for it, because a peaceful pregnancy is what we should all be blessed with.

Peace and love, Tara Marie, proud Momma to Katrina 16, Greta 14, Otto 9 and Emma Sage 4 and chromosmally enhanced

[Naughty Dingo]

I was one of those folks that got a false abnormal result on the quad screen. For me it led to the 3D ultrasound and amniocentesis. it was a very stressful experience. I heard the same story over and over while I was experiencing it. Ultimately, I opted for the amnio because I wanted to know and have time to prepare in all ways.

There have been some recent discussions of testing with Amnio and CVS in the I'm pregnant forum which have been really good. Where Mamas have discussed many of the surrounding issues that make the experience of undergoing these tests complicated, and different views on the tests. This may be a good read for you if you are still trying to decide what to do and what to think about it.

The emotions I felt while going through the process were complex, and beyond what I was prepared for based on what my care providers shared with me. I wish I had access to the women in this community when I was going through the experience.

ND

[aweynsayl]

no advice other than what's here.. just hugs!!!