high risk of downs

[mowmi]

Hi ladies, had the most amazing 12 week scan yesterday... Beautiful baby was sucking its thumb and being all dramatic with its hand on its head. We were told there and then that the nuchal fold was thickened at 3.9.mm and sent for blood tests. Told would need to wait until tuesday for results so went for another private scan. Felt much better after a more through scan and was told although the stat at that point wasn't brilliant 1 in 52 from everything he'd seen (no heart and bowel problems nasal bone present) he wasn't overly worried despite the thickening which he measured at 2.4. Went away feeling ok until bloods came back - my risk is now 1 in 9 and he's saying I should have cvs which is booked for Monday pm.
I'm so frightened and always said that if the baby had downs we'd have it and love it regardless but faced with the reality we're both really frightened but I'm equally scared about the thought of losing this baby through the cvs.

I don't really know what I expect from you all - I'm in a real tis.
Any words of wisdom appreciated x

I always said that I would never have the test as I would still carry the pregnancy with both dd's. My reasoning which was totally irrational probably was that they would be able to tell definatly at the 20 wk scan, so what was the use of risking the pregnancy if the result would be the same, and I wouldn't terminate.

Very difficult one, I don't envy you !

Only you can decide on how you want to go ahead.
I didnt have a nuchal or bloods with DS as I said I wouldnt terminate the pregnancy if he did have downs.
This time I am pg with twins and they cant do the blood test, I agreed to the nuchal so that I could have a good idea.
Twin 1 was very very low risk and twin 2 was just above the "danger" zone and I did panic for a while. The 20 week scan was fine though.

The consultant did tell me though that high risk never means they will have downs and just a few weeks before she had seen a women with a 1 in 2 chance who had insisted on a termination. The consultant had persuaded her to have a cvs and amazingly the result came back clear

Hope you can decide whats best for you and your family x x

With my first child i was told i was at risk of 1 in 4. We didnt have any further tests and just prepared ourselves if thebaby was downs. When he was born perfectly healthy and no sign of downs. Hope this helps

He shouldn't be telling you you should be having a CVS. He should be asking you what you would do with a positive result for DS. If you would plan to keep the baby there is no point risking a CVS- you could ask for more detailed scans to give you a clearer idea.

If you would terminate then a CVS will almost certainly (although not 100% - there are various things that can happen to make test results unclear even from a CVS) give you a definite result quickly. But if you would keep the baby there's no particular point.

There is a thread in the antenatal choices section about going ahead with pregnancies when problems are picked up including a few personal stories about continuing when the baby has DS.

Good luck, but remember the decision (either way) is yours, not the medics!

If there is no chance that you would decide to terminate then do not have the CVS.

Hi Mowmi
With my first child, he had a nuchal measurement of over 5mm and we were given odds of 1/14. Had a CVS which was ok (just make sure the person who is doing it is experienced!) and the results came back clear.

My 3rd is now 9months old - we had a nuchal and the odds were over 1/1000 so it Downs was the last thing I worried about - you can guess the rest

I can't tell you now whether knowing beforehand would have made a difference. I knew for sure with my first it wouldn't.

What can I tell you? that what you are going through now is rubbish. That you need to think about what having the CVS will mean for you for the rest of the pregnancy because the 20 week scan wont give you answers. That having a baby with downs is no different to having any other kind of baby - my son is handsome and charming and clever and can already do things that I will never be able to do (him eating his foot is a sight to be seen!). That no-one should judge you and you can only do what feels right

and that there are 8 out of 9 chances that all is fine!

Dear mowmi
My heart goes out to you, it is a very difficult situation to be in.
In both my pregnancies I was determined to do all the tests, and equally determined that if the tests showed a high risk of Downs I would have a cvs. But that was because if the results of the cvs had come back positive, I would have terminated the pregnancy. It's a more difficult decision if you want to keep the baby no matter what.
You should not overestimate the risk of miscarriage following a cvs, it is about 1%, so there is a 99% chance you will NOT lose the baby as a result. It's a tough one though. The charity ARC (antenatal results and choices) may be able to help you with support and information: www.arc-uk.org. xx

Mowmi, I know how scared you must be feeling right now as I myself have been in your position last year. I had a 1 in 3 chance and had an amnio because I had to know and prepare for myself and my family and once I knew I would then feel able to take the next step. As it turned out my baby did have DS and we continued the pregnancy, the best decision I ever made.

The fact your baby looks healthy and active is great news (DS or not). About 50% of babies with down's have heart defects and there may also be other issues such as the ones you mentioned. Don't feel like you have to have the CVS if you don't want to and my best advice is to read up as much as you can on DS as this may also help you reach a decision on your next step. Ultimately only you know what's the right choice for you and DH.

There is lots of support in the antenatal choices section from women in who have gone through the same thing including my own story about continuing my pregnancy.
I hope everything turns out ok for you and even if things turn out differently than you expected I can tell you the reality is far more positive than how you imagine it might be.

hi mowmi,
am so sorry you are going through this. i know just how you are feeling as i am now 19 weeks preg and have just been through near exact same situ. At 12wk scan i was given 1:50 risk for downs syndrome and my bloods alone were 1:9. I was terrified and was unsure what i would do if the baby had downs but after much heartache we decided we needed to know and 3 days later i had a cvs at 13 weeks. i spent time researching my consultantants individual track record and it was 1% risk of miscarriage, as it happens the procedure was not too bad, its the waiting for the result which was terrible.I also looked into going to kings hospital to see prof nicholas who is renound for specialist knowledge in screening but luckily in my case the result was clear. for us the cvs was the right option but it really is a very personal decision. i also cant reccommend ARC highly enough, take care

I'm not sure this is helpful but this my story... I had nuchal fold screening at 12 + 6. I was 26 at the time and only had the scan because i'm a terrible worrier and expected it would provide reassurance. It did not. The measurement was 3.6mm but combined with absence of a nasal bone this produced the highest risk 1:2. Where this maybe isn't very helpful is that from that point on I had no hope that the baby would be healthy and the risk associated with CVS did not seem a consideration for me. After 48 more hours of hell I got the results. I was stunned when they came back clear. There were some further worries but my beautiful daughter was born in perfect health.

Thanks everyone - I'm going to have the cvs because the not knowing is killing me. You are all very kind and it's good to hear positive stories.
Missy - My numbers sound identical to yours.
Will keep you posted.

Thank you again x

mowmi, my heart goes out to you. I was an older mother and went for a private scan & bloods at 12 weeks and was told I was very high risk of DS - 1/9. As the pregnancy was unplanned we decided to go for a CVS at Leeds. They were fantastic and the procedure was relatively easy (and I am an absolute softee - this was the first time I had a procedure in hospital). The actual procedure only took minutes, and I suffered a tiny bit of period like cramps for about 15 mins afterwards.

The first results came back the next day which are about 97% accurate, and the final results 3 weeks later. Both were fine. I have a very lively 18 month toddler.

Although I could not have gone through with a termination, I needed to know what to expect, so we could prepare ourselves, hence the decision to go ahead with the CVS. This was our first child - so it was daunting just to be pregnant!

You have 8 out 9 chances that everything will be fine, and if you go ahead and have a CVS, again the chances of not miscarrying are 99 out of 100.

Good luck with your decision.... big hug from me. x

Hello Mowmi

I was given a 1:5 risk after my nuchal, but chose not to have any further tests, as I didn't want to take the 1% chance of miscarriage. I was in love with my ds2 from the moment I saw him on the scan. I used the rest of the pregnancy time to read up on Down's syndrome - I found the site Mothers35plus.co.uk particularly helpful in the section real life stories. I was frightened at first but by the time I was ready to give birth, I felt much more positive about how we would cope with a child with Down's syndrome, if we had to. I also learn an enormous amount about some of the facts and the myths out there - there are people with Down's who now graduate, marry and lead long and fulfilling lives.

With my first child there was no nuchal testing available, but I know that I would have been a lot more frightened then.

So I entirely understand you being in a tis, but just wanted to encourage you to take your time to read and talk to others online about their experiences, and to ensure that you are fully informed. I was shocked at how many people - particuarly my midwife - who assumed that I would want to terminate my pregancy, and who indeed were very happy to encourage me to do so.

The internet is a real blessing in gathering information on both sides of the story before you make any decisions.

Hello again - just wanted to echo Notquitegrownup in terms of what people with down's can go onto achieve.

When I said having a baby who has DS is just like having any other baby I did mean that - but obviously I realise that things change as they get older. I also work with adults with LD's including people who have down's and I can categorically say that I do not pity them and I do not think they lead lives that are less fulfilled than my own.

Good luck for your nuchal - the next few days will no doubt continue to be a mess of emotion but there are lots of people here willing you on! x

Thanks again - you've been a great support.
Feeling bit better today... back to my original stance - we can cope with a baby with downs and that's what we'll do if it comes to it.
Still going to go ahead with cvs tomorrow (I'm crap at being in limbo and honestly feel it will effect me mentally if I don't) but will refuse if they try to make a student do it!
The thought of terminating this pregnancy was distressing me so much - now we're back on the original page I feel much calmer.
I'll keep you all updated x

I had a 1:9 and had a cvs, too. The nuchal fold was 4.2cms. The cvs was unpleasant but bearable. I had a very healthy boy with no syndrome. the risk of mc from a cvs is very very small.

Good luck Mowmi - one always feels better once a decision has been reached. Hopefully the result will be clear, but if not, you will be able to prepare for the birth of that special baby.

I fell preg with 3ds last year and had 12 wk scan at Prof Nicolides private clinic in London.I was 45 and with a history of 4 miscarriages, my nuchal reading was 5.6mm.
I was given 1 in 2 for DS.
Had cvs there and then by the Prof,i knew he was best in world at this proceedure . I was told by my miscarriage consultant that if i had a high nuchal reading and was worried about mis ,to wait until 16mks prg and have an ammnio instead which has a lower mis rate.
Anyway, had cvs and all is ok,now have a healthy 4 mon old.
Because of the unexplained high nuchal feading,the baby had a foetal cardiac scan at 17wks and was scanned every 4 wks to end of pregnancy,partly due to nuchal and partly due to the fact i was on aspirin for blood clotting disorder.
All the best for cvs and future

just wanted to say good luck for tomorrow, and hope you have a few days to rest afterwards? i found the wait the worst bit and made sure i was in good company. take care.

Thank you - I'll update you all tomorrow evening x

Hi ladies,

Had the cvs yestersday - I wouldn't like to have it done again but it was bearable.
The team were really lovely over at Kings, gave baby another check over and all seems fine anatomically and his heart seems fine (will need to see cons. cardiologist later this week just because of their cut off on the NT measure)
Results are going to be 3-5 workings days - tracedw you're right the wait is going to be awful!!
Do feel better now it's done - the procedure was straightforward and the baby's heart was fine so they told me to not think about mc as my chance were extremely low.

Thank you all again x

Best of luck, mowmi! Let us know the result when you have it. Take care and get plenty of rest. xx

Hello mowmi - just checking in to see how you are doing! have been thinking about you during this hardest part and remembering all the thoughts that were going through my head when I was waiting for cvs results.

They actually gave us the preliminary results a day early which was good - so maybe... The other nice thing that happened for us as a result of the CVS was we got to find out that we were having a boy. You might not want to know now but if you did...

keep thinking positive thoughts x

Hello Ladies,

We've just heard from the hospital and the results are clear - the baby doesn't have ds or any other C abnormalities.

I'm so relieved!

The support I've had on this thread and a couple of other related threads has truly kept me going - I am ever so grateful.

Best wishes to you all x