1 in 9 chance of downs syndrome. Do I have an amniocentesis?

[lolliehp]

Hello, I am currently 17 weeks pregnant and have just been given the results of my quad blood test and they have said my chance of a downs syndrome baby is very high at 1:9. I wouldn?t have a termination as the baby is wanted whatever the result but I am struggling to work out whether I should have an amniocentesis so that we can prepare ourselves for what to expect over the next few months.

I suffer with depression and am scared that I would not be able to cope as I already have a 5 year old. My partner and myself realise it is not the end of the world to have a downs child but its all come as such a shock. Any help would be appreciated. Thanks.

thanks you all.

I havent been offered any other tests yet as they only rang with the results at 3pm yesterday and told me the amnio would be at 8.45 this morning! I didnt have the test today as overnight wasnt enough time to talk/think about everything. They have now offered me another test for next tuesday.

Bucharest - I am also the kind of person that has to know! lol
thanks again ladies xx

You can also have the amnio later in pregnancy if you want. i think the risk is lower then,

I was given a "high risk" for downs with both pregnancies (though like yours, in fact pretty good chances of the baby NOT having downs), and quite forcefully pressed to have an amnio - but I refused.

I wanted to keep the baby whatever, could not go through with a termination (unless the pregnancy was completely non-viable) and for me, the miscarriage risk was the worst thing. I was terrified at the thought of losing my (probably healthy) baby through a decision I had made - I didn't think I could live with that.

Also, remember those tests aren't 100% accurate, in fact nowhere near 100% - I was also told that having my dates slightly out (my estimate disagreed with the scan date) could also skew the result.

It must be your choice, but it seems to me that logically (as someone said) you don't need an amnio.

(Neither DC has downs btw - though I was fully prepared for them to.)

Lollie - big hugs to you. I was high risk in those tests with both my babies and I know how horrible it is when you hear those results. For what it's worth, I had an amnio with both mine - I had to know once the seeds of doubt had been sown. They were both fine - as a previous poster has said the odds are still stacked in your favour. The amnio itself wasn't that big a deal in the end and the doctor who carried it out said there hadn't been any miscarriages as a result at his hospital in all the time he'd been there. I think with good scanning technology these days it is much easier to see what they are doing. In your shoes I would have the test, put your mind at rest and I'm sure you'll be absolutely fine (if I was pregnant again I wouldn't hesitate). Good luck whatever you decide.

Actually I think the test for Downs is 100 percent accurate.

It's really hard, Lollie. The plural of anecdote is NEVER data, but... Personally, I always chose not to, and this is why; I had a good friend who had an amnio and was told her baby was definitely Downs - but it was a false positive and the baby was perfectly normal. It can happen, alas, so I'd be inclined not to take the risk unless you are sure you'd want the termination if you had a positive test. Thing is, even if the test is positive you can't really be 100% sure. Trinity's advice sounds really wise.

I had a high risk of DS with DD2 ( i was 22 at the time so i cant remember the exact numbers as im 39 now). I opted to have an amnio as i too wanted to be prepared. The thing is the more i read about it and the more i equipped myself with the information i wanted and needed the more i regretted the amnio because like you, i would have gone ahead with a much wanted pregnancy and baby anyway.

The tests 16 years ago took two weeks to come back and she didnt have DS but in my subsequent two pg's i havent had any testing at all as i didnt see the point if i was going to go ahead with the pregnancy anyway. I think thats what Trinity is trying to say, if you are going ahead anyway then perhaps you can have some more non invasive tests but it always helps to equip yourself with the knowledge that you might or might not need in the event of having a baby with DS. I hope your pregnancy is a happy and healthy one and good luck with it, it sounds like your LO will have lovely parents :)

I am 39 and 20 weeks, scan next week. My youngest child has Down's Syndrome. I have opted for no tests this time. My son was born before the magic 35. I would recommend that you contact the Down Syndrome Association as they have brilliant information packs that can help. My friend was told she was high risk but had a child with no additional needs and then I was told everything was ok and my DS came along. He is 6 and full of fun. Good luck with your decision, whatever you decide. :)

I had the amnio for a lot lower risk score than yours. I did want to know and it would have affected my decision to carry on with the pregnancy. Hence why having the blood tests in the first place.

There's no right or wrong answer. Some people would feel they need a definate answer in order to feel prepared, others don't. You will need to do what you feel is best for you. Ask your consultant what their personal amnio miscarriage rate is. Most consultants are now about a 0.5 percent rather than 1.0 percent as scans are better quality so they can see better. You should get a more detailed scan as well, this can look for soft markers for downs. So if baby has a few soft markers then it looks more likely to have downs. Maybe have the scan first and see what that shows, . Wishing you well.

It might be worth talking to ARC - a charity that offers (non-biaised/non-judgemental) information and support in helping you make decisions around antenatal testing. I found them v helpful in understanding my nuchal test results and making a decision.

You could also post here on the Antenatal Tests board, I found them very helpful and supportive.

"Also, remember those tests aren't 100% accurate"

If by "those tests" you mean amniocentesis, sorry but you are wrong. Amnio looks at the actual DNA of the fetus and is 100% accurate, especially on such easy-to-spot chromosomal anomalies such as Down's Syndrome.

I had an amnio at 32 weeks after a 1 in 34 risk. We chose to wait it out for those 20 weeks following bad results at NT scan (bad bloodwork, NT measurement was fine). The risk of loss becomes a risk of preterm labour at 32 weeks. A good compromise between needing to feel prepared before birth and not having it overshadow delivery day versus the safety of the baby.

Many people plan on a 32 week amnio then find when they are there, they're able to wait the remaining time too.

Good luck with your choices and your baby!

An amnio (or CVS) is genetic testing so is 100% accurate..

However if the lab has poor practices, the samples can be contaminated causing a 'false positive'. There is also the 'risk' of administrative error - someone being given someone elses results...

Hello lolly.

Sorry you are feeling so worried.

I had two children in my 40s and decided not to have the tests because I wanted to avoid the situation you are now in.
I didnt want to have to be faced with new decisions every time I got a result. I knew that my results would probably be high due to my age. I also felt, like you, that I would not terminate if they were high.

If you are asking what would I do - I would not have the amnio. I would find out what I needed to know about Downs. I would have to come to the realisation that my child may be born with Downs.
That is what I would do but you are not me and I cant tell you what you should do

I wanted home births so I suppose that would have affected my choices. I suspect they would have wanted me to have the baby in hospital if there was a high chance of having Downs.
Have you had the Nuchal? I that an option?

I hope you find the right way for you.

I am not very good with maths so please excuse my stupidity.

I believe that because of my age, my chance of having a child with DS was 1:35 (or near) even without any tests.

Is that right? That seems to be a very high risk right at the outset. I find stats very hard to deal with TBH. They dont really say much at all in practice.

I wish you well with your pg lolly

Op I had a 1:15 result. You say the amnio was booked for 8:45, did they have any discussion with you re your options? If you really are certain that no matter what the result would be then do nit have it. It cannot tell you how much the child would be affect if the result was positive for downs. One option discussed with me was the opion of an amnio at a much later stage, this would mean no option of ending the pregnancy and would mean you are not risking a miscarriage but a Prem birth instead. This would still give time to get your head around things so to speak. The results take two weeks but in my area I was able to pay for an extra test, using the same sample, that gave a result in 24hours.

Please speak to someone if you need to, don't rush if you need more time. Mine was done later than youts so you do still have time. It's a tough time.

I'd agree with everyone who's said no need to have it if you will keep the baby anyway. If only there wasn't a risk of miscarriage it would be such a simple decision and statistically there's still more chance of baby being fine and you getting reasurance from it. But for me personally I wouldn't have the test as like you, we would also keep the baby.

Wishing you all the best with whatever you decide to do.

MrsDeVere how old are you? Your profile says 40. If so, I'd say you'd have longer odds than that.

I had DS2 at 43. The odds are calculated using your age at delivery date, so they were about 1:40, lengthening to 1:80 after nuchal scan. The midwife said I couldn't have really got a better result. You are basically never going to get a really reassuring set of odds after a certain age.

The due date was a week after my 43rd birthday. I was having an elective section and I kept thinking - if I book it for before my birthday, that'll mean less chance of Downs as the baby will be born when I am 42. Yes I DID know that was daft, and I had him after my birthday.

Sorry, meant to add my best wishes to the OP.

Re accuracy, I was referring to the blood tests you have at the end of the first trimester - the ones that give you a "risk of downs" result - not always being accurate. An amnio or CVS is much more accurate of course, as they are looking at DNA (though as a poster has related, even an amnio result can be wrong, probably because of human error).

this is one explanation. The blood test and nuchal fold scan combined still are 90-odd % accurate, not 100.

Hi Lolliehp,
A few months ago I was faced with the same decision, and although we felt under pressure from the hospital to do the amnio I backed out at the last minute. I just didn't feel happy about the procedure. The only reason I had for taking the test was that I felt I wouldn't be able to live with the stress of not knowing. However, although the first few weeks were bad, gradually I stopped worrying and I hardly ever think about it now. Looking back I feel I made the right decision. As to being prepared, I certainly was not ready to have the 'bad news' confirmed at 15 weeks, whereas the past few months have given me the time to terms with the fact that my son might have DS and I am really ok about it now.

I know how awful you are feeling at the moment, but believe me, over time those feelings will ease and you will enjoy your pregnancy and bond with your baby.

Good luck with your decision!

ballon I am nearly 44.

I saw a poster in the GP the other day and it gave the odds. I am sure over 40s was something like 1:35 but I could be massively wrong

The point is that stats mean nothing really. Because if you have odds of 1:1200000000 you can still be that one IYSWIM.

I am biased. DD's cancer had a 85-90% cure rate. Meaningless if you are one of the 15-10%

One of the reasons I just didnt see the point (for me) in having the tests.

Hi
I too am nearly 44 and have just had an amnio. This wasn't based on blood test results as I didn't have them. I just felt that I needed to have time to prepare my other child (almost a teen) prior to the birth if needed, I have to say it wasn't any easy decision and unfortunately after the amnio my waters began leakng. We still don't know if thngs will go ok due this and am being scanned regularly now, I know I was "unlucky" to have this happen as my hospital is 1/100 but this has made me realise that my wish to be prepared has somewhat backfired and I am still waiting for my amno results which to be honest are the least of my worries now,
OP do what you feel is rght for you and your family.
Good luck