Blood tests come back high risk for Downs

[sarahlou1uk]

Hi. I'm sure there's plenty of you who have been in the same position as me but at the moment, it feels like I am the only one. I have just had a visit from my midwife today who says that my blood test has come back with a one in 50 chance of Downs. I've got to go for a more detailed scan tomorrow, followed by an amnio if I wish. I'm just don't know what to think. I'm 34 and this is my second pregnancy (17 weeks pregnant). My son was born 3 years ago with no problems throughout the pregnancy. I have put on a brave face to my family and husband but inside I am really scared. What makes it worse is that it's my son's birthday on Thursday and I can't seem to think about anything else. Any words of support or contact from other mums who have been in this situation would be helpful.

Not really been in same situation but 1 in 50 means 98% chance baby won't have Downs. Maybe think of it that way?

Hi Sarahlou, I'm sorry that you are so worried about these blood test results. Just remember that blood tests are far from conclusive and in fact often very misleading indeed. The scan will be a better indicator but even that is not conclusive. I know it's easier said than done, but try not to worry about it. I had a nuchal test last year from which the results terrified me and went on to have an amnio. The amnio test came back clear thank goodness but for the rest of the pregnancy, there was one problem after another found during the scans. I'm happy to report I now have a very healthy and happy 8 month ds. Am pregnant again, and am almost wondering if it's worth going through all the upset of having blood tests and scans.

with dd, i was 31 and tested 1 in 136 and had an amnio, never again!. i found it a horrible experience and after initially thinking i would consider terminating if there was anything wrong, during the long scan they did before putting the needle in i realised that whatever the results there was no way i could do that, she's fine, now 4. with ds, i refused the blood tests, i would have tested high risk again and decided i'd rather not know.

there's more chance of a mc because of having the amnio done than your baby actually having downs. at the end of the day the decision about an amnio is down to you and your dh, don't be pressured into one if you're not sure. i felt like i wasn't given the option to say no to mine, it was my first pregnancy and i was a bit blinded by science. good luck with whatever happens tomorrow.

This may be jumping the gun a bit, but try thinking it through from the other angle. First decide what would you do if you found out that the baby did have Downs. If you wouldn't terminate then maybe an amnio isn't for you? If you would terminate, then you probably do need to find out for sure.

sarahlou,

At 12 wks my nuchel came back as 1 in 2035. At my 21 wk scan a poss heart problem was discovered. I was referred and after a scan at a fetal medecine unit was told that due to the heart problem, our baby had a 1 in 5 chance of a chromosome problem (downs, patou, edwards, 22q deletion).

I was 21+6. We had always said we would have any test going so had an amnio that afternoon. (We discussed the risks thoroughly - which are less than 1 in 100 chance of misc). This may sound callous but it was a Friday and I couldn't bear the thought of thinking about it all wkd, decide to go ahead with it the following Monday and still have to wait 2 wks for complete results - taking me to over 24 wks.

I was absolutely terrified, it took minutes and my dh was with me the whole time. I have to say the actual procedure wasn't a big deal, these people are professionals and do it all the time. I had initial results by the following weds (clear of downs, edwards, patou) and full results exactly 2 wks later. The worst two wks of my life.

But, I don't regret having it. It was definitely the right thing for us to do. I now know I am carrying a baby with a normal karyotype and a corrective heart condition.

Had the amnio come back abnormal we would then have been armed with the information required to make an educated and informed decision.

It's your decision, only you can make it - I wish you the best of luck.

I have a 3 1/2 year old with Down Syndrome

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When I was pregnant with dd1 - they discovered a hard marker for Down Syndrome. She had a heart defect that they detected at 22 weeks pregnant. Orignally the local hospital had told us they thought it was a different heart defect with a more serious prognosis. We discussed what we would do after we had the fetal cardiac scan. For dh and I we were having this babe and we would just take it each day at a time. WHen we were told the correct heart defect that she had we were told that it would be very unusual for her to be born without Down Syndrome. She has a heart defect very common to children with Down Syndrome.

The fetal cardiac scan was done at Harris Birthright trust and we were offered an amnio to find out for sure. We had already decided that our daughter would be born and so decided against the amnio simply as it would not make a difference to the outcome.

I think that is where you need to start.... no doubt you are imagining all sorts of things regarding having a child with Down Syndrome. For me - as we were keeping the babe and really weren't scared of what we could face - we knew families who had and were raising children with down syndrome - there was no point putting myself through an amnio.

Others who have been in my position or similar have gone on to have amnios simply because they were unsure what to do or wanted to know for sure or knew without a doubt that they would terminate the pregnancy.

When pregnant with dd2 - they discovered a soft marker in the heart for dd2. This increased my risk further of having another child with down syndrome. We again declined am amnio - again because it would not change the outcome and we did not need to know - we knew what it was like to raise a child with Down Syndrome. In fact to be honest I was terrified of raising a child without special needs - I did not know where to start. Dd2 was not born with Down Syndrome.

Sure there have been tough time - worst was seeing my daughter go through two open heart surgeries within three days when she was 8 weeks old, almost losing her at 8 weeks old. I can't imagine not having her in my life.

Sorry this is so long - just wanted to share my story with you. I second Yafta's advice in essence but wanted to share with you a little more than that.

I had 1 in 14 for Edwards Syndrome in my last pregnancy. Tests, scans everything - baby is fine.

Try not to worry - I'm absolutely certain everything will be OK. Tinkers right - 98% chance everything perfectly normal. (So really only deserves 2% worry time!)

Thank you to everyone who has responded to my plea. I have had the amnio and am now awaiting results - should be here tomorrow by 4pm as my hospital runs the FISH procedures. I am keeping my fingers crossed. I will post again tomorrow whatever the result. Once again, thanks to everyone. It really has helped me.

I wonder about Edwards Syndrome. They told me that dd had symptoms of this when I was pregnant too, and I've heard similar stories from a lot of other mums, yet Edwards is very rare indeed. Are the medical profession being over-cautious do you think? Scaring pregnant women who are already anxious?

Hi Saralou - good luck for tomorrow, please keep us posted. I'm 26 wks pregnant with my first baby (age 41)and was given a 1 in 21 chance of downs. Although an increased risk (due to age) was expected, the test results were devastating, but we were thankfully given the all clear after the amnio. Whilst this is such a worrying time try to remember that the odds are in your favour - 98% of not being downs - I know of someone who was given 1 in 6 of downs whose little one is absolutely fine so try not to worry.

Hi sarahlou - just wanted to offer some support at this hideous time. I was 22 weeks when I had my anomoly scan which showed markers for downs.(am 31 and 1st baby) DP and I decided to go for an amnio after so much deliberation and a heart wrenching pre amnio scan. Consultant told me that we would have the results in 48 hours ( FISSH results). However, she FORGOT to write this on our sample, so after waiting for 2 weeks I finally go the results (v unhappy with the consultant!), which fortunately were fine. Just wanted to tell you I know what you're going through - can't concentrate on anything and your life kind of goes on hold doesn't it? Wishing you all the best and let us know how you get on. Am sure with the odds you have, the baby will be fine.

This may sound flippant but I don't mean it to.

Think of it this way, there are 50 people in a room and one has got £100 that you can have if you pick the correct one.

What's the likelihood of that?

sarahlou1uk: Best wishes for your test. I hope the experience will not be too stressful for you.

Big hugs xx00N

hi sarahlou

A friend of mine (aged 38) had a 1:35 result for downs when pregnant. She now has a 3 year old perfectly healthy son. Just wanted to say that these estimates are not always foolproof and the risk is still neglible. Good luck xx

Hi Sarahlou - I had a 1:one hundred and something risk but I still went ahead with an amnio. As Yafta said earlier, your only major decision really is whether it is WORTH you having an amnio:eg, would you terminate if downs showed up; or would you keep the baby but really need the knowledge in order to help you acclimatise and prepare?

I loved Eidsvold's picture of her DD, (who is absolutely GORGEOUS!) and if I knew her in RL I'm sure this would have swayed me - but I guess you can only go on what knowldge you have - and I have a friend (older lady) who has a very severely disabled down's child, and I knew for absolute certain that I did not want my life to go there. So I wanted the amnio because I would have terminated, basically.

If it wouldn't change what you do, then maybe you don't need it? I do think though if it were me and I was to be going ahead with a down's pregnancy I would still want to know in order to get used to the idea.

I took all the advice and rested up after the procedure (which wasn't painful) and went on to have my healthy DS.

Am thinking of you, I know what a stomach churning time this is x

ooh, I can't work out for ages how to do these emoticons and now they're popping up in inappropriate places! Grrr.

After a nuchal scan my rik was 1:44. I was so upset and worried about my baby, I spent hours on the internet frightening myself stupid. It was a horrible time and lots of tears were shed. I decided against an amnio becasue of the miscarriage risk and so had to wait 6 more months to see if everythnig was ok. My dd was born at full term, perfect and healthy. She is now 15 months and absolutely amazing. Best of luck.

Sarahlou, just wanted to add my support and assure you I know exactly what is going through your mind right now. When I was 37 and pg with my fourth child, I was given a 1 in 70 chance of Downs. Written down like that, it doesn't seem very high, but the reaction from the hospital certainly suggested otherwise. Their reaction frightened me more than the figure really.

Anyway, I opted not to have an amnio because I had already lost a twin earlier in the pg and I felt the pg was fragile enough. It was agonising though, not knowing for certain one way or another. The 20 week scan showed up no soft markers, but I wasn't in the clear totally until I had the baby. It was dreadful. I did everything I could to hide my pg all the way through and some people who saw me every single day didn't know I was pg until literally a few weeks before I was due. I was resigned to the possibility of having a Downs baby myself, but I couldn't bear to see other people's reactions if he was indeed a Downs baby. Fortunately, he was fine, but I will never forget how I felt then.

Not sure any of that will help you but I felt the need to unload. Wishing you all the best for tomorrow.

Big thank you's to everyone who has sent their support to me. I have had the results and am all clear. My thoughts go out to all of you who have yet to hear their results. It is a very difficult time for all. Getting so many messages of support from mums all over the country really helped me deal with the situation and once again, BIG THANKS from me to you x :)

Delighted for you!

chuffed for you x

Hurrah! So happy for you!

Sarahlou, this is fantastic news. I hope that you will now be able to relax and enjoy the rest of your pregnancy.

All the best

That's great! I didn't post earlier but was thinking of you today.