Dow'ns risk 'high' - do I have an amnio...?!

[misspollysdolly]

Just found out today that my blood tests results have put me in the 'high' risk category for having a baby with Downs Syndrome. More specifically I have a 1 in 150 chance of having a baby with Downs (for the record I'm a bit about this being 'high', but still...)

I am 17 weeks with DC4. Termination would not be an option. Would keep the baby whatever. Question is, is the risk high enough and the 1% risk of miscarriage (for me, more scary than then prospect of having a child with significant special needs) low enough to warrant having an amnio to get a conclusive diagnosis...??

Has anyone out there had an amniocentesis and all has been well? Has anyone had a MC or complications after having one...? I kind of figure I practice 'higher than 1%' risky behaviour everyday of my pregnant life (crossing the road, eating bagged salad - shock horror!!) but still, the risk of losing this precious baby - Down's or no Down's scares me silly. Knowing would be really good for peace of mind, but is the amnio risk too much of a risk to warrant the kind of 'privelege' of knowing for certain...?

TIA - MPD

Hiya
Sorry haven't ever been in that position so am not the best person to comment I guess, but it sounds to me like you have answered your own question! If you wouldn't terminate anyway, then why risk things? Yes you aren't 100% certain unless you have an amnio, then again no-one is if they haven't had one. I am pregnant with DC3 and although my odds are "better" than yours, there is still that chance - and even someone with a 1 in 100,000 chance still has the chance that they are that one.

Like you say, 1:150 doesn't seem that high anyway - I think our PCT offers an amnio if your odds are less than 1:200 as the risk of a miscarriage from an amnio is 1:200 - so it's pretty close anyway in my opinion.

Sorry I am reading this back and it doesn't sound like I'm being very sympathetic and I don't mean it to sound that way at all. I just think that it seems as though you are pretty clear what you think anyway!

Best of luck whatever you decide xx

Hi misspollysdolly

I had a scan at 14 weeks rather than 12 and baby was slightly too big for the nuchal scan so they offered me the other test - think its a quad test? Anyway, I decided not to bother because I knew I wouldn't have the amnio even if it came back high risk, because I wouldn't even consider a termination. I guess this is kind of what you're saying even though obviously not the same situation. Just wanted to offer an opinion, which, if I've rambled and not been clear is that it isn't worth having the amnio.

Hope that helps.

x

I would have in your situation. have an uncle with downs so know how difficult it can be so would want to prepare myself beforehand.
I have a friend who refused as she said she wouldn't terminate anyway so it would be unnecessary. I can see that POV as well.

Misspolly firstly sorry to hear about your worrying result - my NHS area consider 1 in 250 as 'high risk' so I wouldnt get hung up about the figures too much, 1 in 150 is still 0.66% which is incredibly low odds.
It sounds like you have given this some good thought and there is little chance of you terminating so further investigation would be for your own peace of mind only.
My own situation was that I was given 1in28 chance or 3.5% initially from my age and bloods and nuchal measurement. I was offered amnio....but after 4mcs I had a feeling my body would not take too kindly to the interference and the risk of mc was too high. Instead I found a private scanning company in my area and had a much higher resolution scan. the wonderful lady there went into alot more detailed study of the bub and established that none of the ds markers were present ie nasal bone was there, femur was there etc. She also checked for spina bifida by looking at the spine and something in the brain. For me that was enough and despite being asked several times if I wanted amnio I refused. All is fine with bub.

Is there any chance you can get more investigation done without amnio or cvs?

Hi I recently had an Amnio an the risk is actually 0.5-1% depending on the doctor who does it. However there some opinion that more likely to miscarry if something is actually wrong with the baby. I had no problems. The doctor was really careful and I didn't have any bleeding or anything. However at you 20 week scan they can actually look for soft markers for downs so you don't necessarily need the Amnio if you don't want. Of course the scan won't rule it out like an Amnio will but will make it more unlikely IYSWIM? The difference for me though is that my risk was 1:70 so for me made it easier as that was higher risk than miscarriage. Although worth pointing our that you're not 'high' risk, just higher than average.1 in 150 is actually still pretty small but I know it doesn't feel like that believe me! X

It's such a tricky situation.

I wouldn't terminate anyway, so I would be inclined to say why go through that risk - if you miscarry because of the amnio and the baby didn't have Down's, that's worse than if you don't have the amnio and the baby does have Down's.

the only thing that can sway the decision to yes for me, would be if I neededto be prepared for the extra care and attention the baby/child would need.

I was given a 'high' possibility of 1 in 100 and decided not to have an amnio as the chance possibility of MC was 1 in 100 too and I thought I couldn't take the risk. I wouldn't have had an abortion whatever the result so I didn't see the point. My hospital were excellent and gave me a VERY thorough ultrasound at 20 weeks and another at 22 to double check the heart structures and I left it at that. They also told me I was having a girl. My completely barking but clinically fine son is now four, a lot of medicine is more of an art than a science than you'd think

I hope you are feeling ok at the moment. I remember that time vividly and it was not pleasant, give yourself some treats and try to relax. I did manage to push thoughts of a child with Downes fairly far back in my brain but I'd be lying if it wasn't something that cropped up in my thoughts most days.

As a comparison, DS1 has ASD/Dyspraxia and will probably struggle quite a lot over the next few years, there are so many other things that we can't diagnose, you might as well just kick back and enjoy the lovely middle trimester and feel all those lovely kicks, I miss that bit loads.

An option a family member of mine did (who was in a similar situation and had similar beliefs on the termination) is to the arrange the amnio for later in the pregnancy. The results won't change regardless of when or if you have it and it changes the risk from miscarriage to premature birth (still risky but more survivable).

I wasn't high risk as it turned out, but I did think about what I'd do if I got a "good" high risk result - ie 1 in 50 for T21 or better.

I wouldn't have terminated but would have liked to know before birth, so I would have opted for an anomaly scan at 20 weeks (at the time this was not offered automatically in my area) and amnio later in the pregnancy (lower risk) if there were additional soft markers.

150-1 risk of Downs compared to 100-1 risk of miscarriage from amnio would have made the amnio too high risk for me personally.

Oh wow, I REALLY wish I'd thought to ask for an amnio later on in the pregnancy, would have been lovely to know for sure before going into labour. Ah well too late now

misspolly - how old are you? I only ask because of how heavily adjusted the risk ratio is for age. For me, at 38, I would be OK with 1:150. At 35 I was given 1:800 with dd and I gather that a similar scan and bloods at the age of 25 would have given me a 1:20,000 result. Pretty extreme difference. At any rate, if you know you wouldn't terminate then I personally wouldn't have the amnio, but if you feel, particularly with 3 children already, that you'd need to be prepared then that's a consideration...

In other words, I think it's a totally personal choice, but if you are over 35 then I would consider the result less of a concern than if you were a lot younger, if that makes sense.

With DC4 my triple test/nuchal scan combined with my age gave me a rather terrifying 1:4, so I did have the amnio. I wouldn't have terminated, but I wanted and needed to know before she was born. When I had the amnio (I am in Spain) I was shown statistics from here at least showing that miscarriage risk was one half of 1%. The whole process took 10 minutes and we had the results in 48 hours (I was 18+4). No pain, very slight discomfort and then the excuse to do NOTHING for a few days .

If (and this is very unlikely, but not completely ruled out ) I have any more children I would have the amnio again. But I am 40 now, and well aware of chances etc.

Good luck, which ever way you decide.

Could you pay for a 3d scan to get more info?

If you feel that you want this baby, with or without Downs, then I can't see the point in amnio.

The risk of miscarriage is similar to the risk of your baby having Downs - and that is very small.

Hello,

I have a son with Down's Syndrome, I did not know until he was born. I am now pregnant again, over 35 (I had him at under 35) I am not having any tests, I had lots of miscarriages and would not want to risk an amnio as I already know I am high risk. I guess what I am trying to say is is that the numbers are statistics so if you would not terminate anyway, you have answered your own question. A friend of mine (long before all the extra tests) etc. was told she was low risk, she had a daughter with DS and then her second she was told she was 1:25 ish but that was rubbish and all is ok with her next daughter. If you feel ok with now knowing then don't risk your pregnancy, if you feel you would prefer a time to prepare (whatever the result) then go for the amnio. Good luck.

There are lots of factors taken in to consideration with these tests. I was a high risk 1:76 for Downs with my first pregnancy. And was something like 1:1799 for SpinaBifada. I was told that given my age (24 at the time) non smoker/drinker and healthy that the reason the DS was so high risk was because of the chances of SB.
For what its worth, I work 1:1 with a child with Downs and I would never terminate.
It does sound like you have answered your own question.

On the other hand. When I got my results my boss told me about her friend who had a 1:2 and 1:5 chances of DS with both her girls and the worst 'ailment' between them is dyslexia.

Hope you and your family are happy and healthy
Sho x

hi, i have had two elective amnios with my DS and DD and will do again this time. If the findings will not affect your choices then I wouldn't do it, whats the point, but they are very low risk, 1% is the national average so your hospital could be much much lower and it is done using ultrasound so very little chance of anything going wrong, you have not got to have sex for a week afterwards and to rest up for two days afterwards, no probs with either of mine and was comforting to know all ok so could relax rest of pregnanyc, that said at my 20 week scan found out my DS had CAML on left lung that he had to have removed when 7 months old six hours in surgery so not all plain sailing is it anyway!!

Didn't want to read and not comment, but I had a 1:2 chance of DS at age over 40.
It was the most scariest time of my life as I didn't know what to do. In the end, I opted for the amnio (carried out by the consultant). The results came back after 2 days and all was fine. I now have a very healthy and responsive 10 week old little girl, who is surprising us everyday with her develoment.

So, all I'm saying is, the figures are just statistics (as others have highlighted). If you know for sure you don't want to terminate, then I would ignore and enjoy the rest of your pregnancy.

Good luck in whatever you decide

Hi,I was given a 1:25 chance of DD having downs syndrome following a triple test. I declined the amnio as I knew it would not make any difference to me, Instead my consultant carried out extra scans throughout my pregnancy to check for soft markers and I was offered the chance to have a late amnio at around 34 weeks when the risk would be premature labour rather than miscarriage - and they assured me that at this stage they could cope with a premature labour very well. At the time we decided we would have the late amnio but as the months passed we decided that we wouldn't have it as we had waited that long and a few more weeks wouldn't really change anything. Our baby was born a week ago and all was fine.
At the end of the day only you can decide what is right for you and your family. You still have 149 chances out of 150 that your baby won't have downs syndrome.

Good luck whatever you decide xx

I avoided the tests because I didn't want this decision! If you wouldn't terminate, it seems daft to run the miscarriage risk of an amnio. If you want to know pre-delivery to prepare yourself for a diagnosis (entirely sensible!) I'd take the detail scan, and a late amnio at 34-36 weeks (most hospitals offer this). Lower miscarriage risk, slight increase in preterm birth risk, result before baby born (usually!). Remembering at all times that these are all just numbers and everything may well be absolutely normal :)

misspolly I was in exactly your position with DC3. The consultant booked me in for an amnio the morning after I'd heard the blood test results saying that by the end of 23 weeks I'd have worn myself out worrying and his very strong advice was to go for the amnio.

I had it almost without thinking but had to wait weeks for the results. It was fine. I've had five amnios since, all fine too. As someone has already said, the risk diminishes or increases with the expertise of the doctor carrying out the procedure; I had unswerving faith in mine (the same consultant each time).

I had 1 in 34 (no desire to terminate) and decided to wait it out until 32 weeks and have the amnio then. I was still on the fence at 32 weeks but decided to go ahead anyway. I am glad we did as although I didn't feel any huge sense of relief, the absence of worry and no longer needing to obsess was worth it many times over. I hadn't realised until we found out all was fine just how much it had been overshadowing every moment of my day.

For 1 in 150 I would not have done any amnios at all, probably wouldn't for anything over 1 in 80. For anything under 1 in 20 we'd probably get a second trimester amnio just due to "need to know".

If a termination is not an option for you (which is the main reason most people opt for an amnio) you need to weigh the risk of miscarriage from the amnio against the benefits of knowing in advance whether the baby has Downs. Under those circumstances I don't think this is a risk I would take but it's a very personal decision.

What Booboostoo said.