1 in 30 change for Downs - what is your experience?

[winterwonderland]

Four days ago I found out that my triple screen came back with a 1 in 30 change of Downs. I am scheduled for a level 2 ultrasound on the 10th. I can have an amnio the same day. My doctor told me she has seen many 1 in 30's and doesn't have a single Down's child in her practice. I asked what the highest % she had seen and she said 1 in 16 and the child did not have Downs. I am 34 and will be 35 by the time the baby arrives.

I am worried that the ultrasound will not ease my mind. I have a former co-worker that was in the same boat and was told at the ultrasound that everything was normal. She delivered a Downs baby. I wish I didn't know about her situation.

I live in a small town. The hospital I delievered my first two children at does not have a NICU nor do they have a pediactic nurse who could put an IV into an infant (my first son had to be transfered to a NICU 40 miles away due to this reason).

I have no desire to abort this child. I have one special needs child who is 3 (not Downs). I need to know whether or not to transfer my care to a different hospital that is equipt to handle my delivery. My doctor has already informed me that she did not recommend having our child delivered locally but rather at a hospital with a NICU.

So I'd like to hear from anyone who has been in my boat. Did you only do the ultrasound? Did you do the amnio? And why did you make the decision. Thanks!

[ellies mom]

I'm sorry, you are going through this. I would if I was in your circumstances have the amnio. If the child does not have downs, it would be a huge weight off your mind, and if the child does then you could prepare. If the ultrasound won't ease your mind, then I think the risk of the amnio would be worth it because you shouldn't live with the stress throughout your pregnancy.

[Karenn]

My odds were 1 in 7. I had the amnio. I never considered not having it. I am a worrier and I knew I would worry the whole pregnancy if I couldn't be 100% certain one way or the other. I decided the worry would have been worse for the baby than the amnio risk. I'm also a planner and I knew that if I were going to have a special needs baby, I would have wanted to plan every thing out ahead of time. When I was pregnant the first time, there wasn't really the option of a more sophisticated ultrasound. That technology was very new and hadn't trickled down to my doctor's practice. Even if it had, I still would have had the amnio. In fact, I was expecting to "fail" the triple screen with DD and was planning on getting an amnio with her too, even though the more sophisticated ultrasound was available then. I just like to know what I'm dealing with. My bloodwork ended up coming back normal with DD though. Colin turned out to be totally healthy and I have never regretted getting the amnio.

Good luck with your decision. I know how stressful this can be.

[megs4413]

I think it's probably best that you deliver at the other hospital regardless of the results of your level II ultrasound. AND, if that is the only thing that will change if it turns out the baby has Downs (other than the fact that you'll research Downs and start getting info/support on raising a child with Downs) then is the amnio risk worth it to you? they will check for other Downs markers in the u/s and if those physical characteristics are absent, i wouldn't think an amnio necessary (since even an amnio isn't infallible in predicting downs). If the characteristics are present, you might as well prepare for the Downs, right? I don't see what having the amnio gets you at this point, if you see what I mean.

I PM'd you about our personal story.

[pb&j]

<snip>
>(since even an amnio isn't infallible in
>predicting downs).
>


The karyotype done from an amnio does, in fact, definitively diagnose or rule out Down Syndrome. I don't have the #'s in front of me, but a decent percentage of Down Syndrome babies look normal on u/s. If it were me, I'd have the amnio, and just make sure to have it done by a doc who is very experienced in doing amnios.

-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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http://b1.lilypie.com/aKGqm5/.png[/img] ([img)

[bubbaray]

I have to disagree that amnio isn't infallible. As medical testing goes, is considered extremely reliable and the gold standard in diagnosing (as opposed to screening for) genetic disorders.

From the March of Dimes website: Amniocentesis has an accuracy rate of between 99.4 and 100 percent in diagnosing chromosomal abnormalities.

http://www.marchofdimes.com/professionals/681_1164.asp

There aren't many other medical tests with this level of reliability. My OB (perinatologist who does a ton of amnios) says that in his 40 years of experience, the reliability/accuracy of amnio is virutally 100%.

IMO, I wouldn't worry about a false positive with an amnio, but I WOULD with either the triple screen (false positives are common) or the Level II u/s. Both of those tests are screening tests, NOT diagnostic tests.

While I haven't been in your position, I have had 2 amnios. I've never had the triple or quad screen and my Level II u/s have always been after the amnio. I had my amnios based on AMA (the ever-hated term advanced maternal age). Both times, as I knew I definitely wanted the reliability of the amnio results, my OB and GP both recommended that I skip the screening tests as I was going to have the amnio regardless of the outcome of the other tests.

If I were in your position, I would probably have the amnio. Its seems that, in the circumstances (need to switch hospitals), its pretty important to know exactly what you and the dr's will be dealing with at delivery.

Many hugs to you!


Melissa

DD#1: 04/2004

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[newmomto3kids]

I had a 1 in 100 or so chance for Downs on my triple screen test. I did not want the amnio for fear that anything might happen to the baby. I did have the level II ultrasound. That showed that she had a single umbilical artery and IUGR. I was referred to the high-risk doctor for the pregnancy but chose to stay with my regular OB but deliver the baby at a hospital with a NICU. The peri put my risk at about 1 in 50 for having a baby with Down Syndrome. He felt that even with the abnormalities seen she was unlikely to have DS. He was correct.
Lily was born healthy at 38 weeks. She had a few minor problems, but nothing major.
I would not do anything differently. I know it is so scary, I remember it well. I am so sorry you have to deal with this.

[jgriffin]

Can you get an appointment with a genetics counselor? They will be able to explain the different tests and screenings, and the various risks associated with the tests. The risk of a miscarriage with an amnio is very low, but possibly not low enough for you to justify having one. A GC could help you run the numbers to see what is worth doing.

DH and I are trying to decide whether to do an amnio or not. If I were older or younger it would be more of a no-brainer, but being right on the edge makes it a difficult decision.

[kbudsberg]

I don't remember for sure what my numbers were but it was about 1 in 60 chance I believe. I was 33 at the time. I had the Level II ultra sound which indicated everything was normal. I opted not to have the amnio. Although small, there is a risk to the baby w/it. I just didn't want to risk it given there was nothing that could be done (except aborting which I wasn't going to do) during the pregnancy. My dd is just fine, no Down's. The test has a very high "false" positive and I don't think I will ever have it done instead. I've hear of so many "false" positives but hardly any real positives. Good luck w/your decision. It is tough and very stressful.

Kim and Emma 1/14/04

[jesseandgrace]

When I had dd the triple screen (a terrible test in my opinion), it showed a 1 in 100 chance as far as I can remember. I went ahead with the level II ultrasound, and everything looked perfect. The specialist doing the screen was very confidant that dd did not have downs. We were not planning on doing anything based on the results either way, so we chose not to have the amnio. I did stop worrying as much after the level II, even knowing they are not completly reliable. I did however have moments where I slipped back into worrying, but when she was being born and right after I never thought about it at all, I even asked the dr who delivered if she looked fine almost as an after thought because I thought I should - I had pretty much put it out of my mind. That said, if I ever have another child I would do the amnio no matter what. It was stressful not knowing, even after I had stopped worrying as much. I think it is a hard decision, and for me it all worked out fine, but I think I made the wrong decision not going with the amnio, and just knowing for sure either way. I think it is a very hard decision because of the risks of the amnio. DD does not have downs.

[megs4413]

i forgot about the genetics counselor. We did meet with one and discuss the numbers more in depth. That really did make me feel more confident in my decision.

[overcome]

I only have a second...
Mine came back 1 in 18. I had the level 2 ultra. No markers. I couldn't rest..had the amnio..everything was fine. It made a big difference in my whole pregnancy (piece of mind!). You will find HUNDREDS of people get the same results that you did and have a normal baby/pregnancy.

My dr. said the numbers were helpful to him b/c, since it wasn't downs, something made those numbers off so they alerted him to pay closer attention to my placenta. I had an ultrasound once a month to monitor and, at the end of my pregnacny (36 wks) I was induced b/c of some very minor complications. They would not have seen these complications if I was not getting an ultrasound every month. So, if you rule out downs, ask your dr what else those numbers could tell him/her.

Hope this makes sense..I don't have time to elaborate!

[starrynight]

My friend went through this very recently, she had a 1 in 20 chance of downs I think. She had multiple u/s and refused the amnio. Her baby is very healthy and was born fine. Her doctor told her that out of every person they test in one day 11 will come back like that, out of those eleven usually only 1 will actually have a child with special needs, sometimes none of them do. I don't even understand why they still bother with the test.

I know someone else that her triple screen came back fine and her son has down's. The test is very unreliable IMO.

Good luck.

[sadie427]

My SIL had a one in 30 triple screen and had a normal ultrasound. It turned out that her dates were wrong, which is a common reason for a false positive triple screen. The triple screen is a screening test, so by definition there are a lot of false positives.

Slightly OT, but if it is actually true that there is no one at your hospital that can put an IV in an infant, I personally would deliver at another hospital even if you are predicted to have a normal delivery.
I'm a physician (for adults) so tend to be more cautious, but that's my opinion.

[Tondi G]

I would go ahead with the Amnio! I went with a friend of mine to her amnio and it was quick and in her words "so much easier than she expected it to be". I would want the peace of mind. It's hard enough to go through the emotional rollercoaster with pregnancy hormones etc. I would want to know one way or the other and be able to prepare myself if my child expected to have Downs. I do know somone who had a perfectly normal triple screen and their little girl was born with Downs.... I think they should do away with the triple screen.... SOOOO many flaws!

~Tondi

[winterwonderland]

Thank you so much for the responses! I think the worst part of all of this is that my DH has been out of town. I received the phone call from my doctor 2 hours after his flight left. We really haven't had much time to talk about what we are going to do. I believe we will speak with a genetic counselor prior to the amnio. I need to call next week to see what the procedure is and if we can get in earlier to do the testing than wait until another couple of weeks.

In my heart I know that my chances of having a Downs baby is very small. I went into the triple screen knowing that they have a lot of false results. I think mainly I am feeling sorry for myself. I already have one special needs child. He can't talk and he is 3 1/2. He can't do many things for himself due to low muscle tone. One doctor says he is autistic and another says he is not. Besides going to special ed 4 days a week we have to travel to take him to his therapy (PT, OT and Speech) twice a week. It is so difficult to deal with my son on some days. I cannot imagine how I will do it with two speical needs children. And then what of my second son who is "normal" (I really hate that word now that I have a special child). Where will he fit into the mix? How will I explain all of this to family and friends. They already worry about us as is.

I told one more person today at church. She gave me some great insight that I will discuss with my DH when he gets home tomorrow. Not that we will have a lot of time as I need to go to a class about behavior and autism. Never a dull moment in our household!

Again, thanks so much!

[Fairy]

For me, I was in a situation where I was not willing under any circumstances to have an amnio because I didn't want to risk miscarriage, and that is most definitely a small risk. Luckily, my triple screen came back great, but U/S is not a reliable indicator, so that's something I had to prepare for if my trip came back with a probability. If it were me and I had a history of miscarriage, then with a 1 in 30, I would not have the amnio. If there were other factors, like a genetic history of downs or other genetic disorders or any kind, then even with the risk, I would consider the amnio. If it were me.

The question you have to ask yourself is, what am I going to do with this information. If you are willing to abort (sounds like you're not) due to the very worst news, then that's a reason to have an amnio, definitely. If you're not willing to abort and no matter what, you plan to carry, then you're doing the amnio simply for your own peace of mind. For some people, bad news would not be welcome during the pregnancy, and the not knowing is more of a feeling of hope than peace of mind. for others, it's the not knowing that's the problem. Figure out which of these you are, and that's your answer.

Very best to you.
-- Fairy

[o_mom]

I disagree that and amnio is only of peace of mind if you aren't willing to terminate the pregnancy.

There are many, many possible decisions that you could make with the information. The OP has a example right there - choosing to deliver at a different hospital. The list is endless, including making decisions about care providers, consulting with specialists ahead of time, etc. Rather than being thrown into making decisions on the spur of the moment without any time to process them, you can plan for any contingencies. Since DS babies often have other major medical problems, it is not simply a matter of saying "Oh, he has DS" at the birth.

Our neighbor had a boy with DS and she always said that knowing ahead of time was one of the best things. They knew the doctors (all 4+ of them) that were coming to consult, they could line up lactation help pre-birth, she made sure the hospital she delivered at had everything needed and most of all, she said they could make the announcement to friends and family, without having to say "The baby's here, but...."

[Karenn]

I agree that you need to ask yourself how you're going to use the information. However, I have to disagree that the only reason to get an amnio is if you are planning to abort or for peace of mind. I had absolutely no intention of aborting my child. I also felt very fortunate that I was able to experience peace of mind when we found that DS did not have downs. However, if we had found out that he did in fact have downs, then there would have been all sorts of ways I would have used that information to prepare for having a special needs child. In addition to choosing a hospital that could have met his needs, I would also have wanted to research pediatricians that had experience with downs syndrome babies, as well as lactations consultants that had experience in helping downs babies nurse. I would have worked to find resources and support for mothers of special needs babies in my community. That's just the beginning of what I would have done with the information. In my situation, to say that the testing was purely for my peace of mind is terribly inaccurate.

[megs4413]

IMO, you could make all those preparation without having the amnio. We are anticipating the birth of a child with cleft lip and palate this March. I have declined the amnio to test for chromosomal abnormality for a lot of reasons, but that doesn't mean i can't prepare for this baby's needs. This baby may still be born without cleft because u/s aren't 100%, equally possible is that this baby may have Downs or some other abnormalities besides cleft, but doing the amnio won't really change the way i prepare.....Preparing for the worst, hoping for the best. i don't need an amnio to find the right doctors, the right hospitals, and make all the other necessary preparations for a special kid...i don't want to take the amnio risks because i just don't understand what the reward is...

[o_mom]

In your case, maybe there isn't a reward, but in some case there are. Finding and consulting with a doctor without knowing if there is a problem is much harder. Some specialists will not consult on a "might be" basis, only with a diagnosis. What if you live far away from those specialists or they are not "in network"?

In the OPs case, it means not delivering at the hospital where her OB is and in some cases that could mean a huge transfer of care. If you are in a large city, you can just switch (we have 3 major hosptials within 10 min of our house) but if you are in a small town where there is only one small hospital, you are talking possible transport of a newborn to a larger one hours away or scheduling an induction (with it's own risks) at the larger place so that you don't deliver before you get there.

Also, we are talking about DS here, but what if it were Trisomy 13 or 18? Would you manage labor and delivery differently? Would you want to make different arrangements for who was at the birth?

The risks and rewards for one situation are not as cut and dried for others.

[Karenn]

I'm glad you're comfortable making all of those preparations without an amnio. I don't doubt for a minute that you're able to do that, really. :)

I think my disagreement is more with the idea that those of us who do choose to get an amnio are doing it only for our own peace of mind, or to choose abortion. I really don't feel like the only reason I got an amnio was for my own peace of mind. I feel like it was the best way for me to prepare to meet my son's needs, either as a healthy baby, or as a special needs baby.

I suppose I could have not had an amnio, and just prepared for a downs baby, but in doing that, I think I might have then neglected to prepare for having a healthy baby. Again though, this is about me meeting the needs of my children. I don't at all doubt that you are able to meet the needs of your children in an entirely different way from mine.

[Fairy]

I just want to clarify my statements. I never said that those who chose an amnio are doing it *only* for their own peace of mind or to choose an abortion. I re-read my post to make sure I didn't say that, and while I could see how my second paragraph could have been read that way, that was not my intent. The OP was not sure what she wanted to do, so I gave her my perspective, which is that not knowing her situation (and knowing my own), there is risk to weigh, so be introspective and ask yourself what you will do with the information, even if you don't really know. Doesn't mean I assume my perspective is the only one.

The truth is that amniocenteses and CVS's are risky. For most people, there's no issue, but for others, it's unfortunate, but they miscarry. I was fortunate and had a good trip screen. If I had one that came back 1 in 30, I would not do the invasive testing because the odds are good with my genetic history that we're ok and bad with my health history that I'd miscarry. If there was more of a genetic risk, I'd give it more consideration. Is that the OP? I dunno. That's why I weighed in.

For me, there is hope in not knowing, rather than defeat in knowing for sure that there is bad news. Don't read into the word "defeat," I'm just trying to explain myself. There is no reason why I couldn't prepare for a downs baby with the right doctors without invasive testing. Me. For me. I'm not against the invasive testing (genetic testing) at all. But I cannot do it for reasons that are personal to me, and so sharing my reasons I hope will add some value to her. That's what I was saying.