1in45 chance of downs after combined test help needed

[EATPRALINES]

I have been given a 1 in 45 chance of downs from the combined 12 weeks test. Nuchal scan was in the normal range but one of the bloods and age (I will be 43 when baby is born) brought the risk up. I have decided against having CVS as would have to have this in the next few days but feel pushed towards having an amnio. The risk of miscarriage really worries me - I have had three. I also have three children so have to consider the impact on them and my husband of having a child with disabilities.

I was wondering whether any one has waited until the next set of blood test the triple test and found that their risk had decreased or whether these will make no difference.

We did not test in any of the previous pregnancies and although I knew there was a high chance of being high risk it has still shocked me.

[SpagboLagain]

Hi pralines, sorry you are having a worrying time. When I was PG with DS2 we got a 1 in 8 risk of Downs with the combined test. I had decided against amino or CVS due to risk of mc but wanted a clearer view of risk. I asked to be rescanned by a consultant and for them to do a nasal bone determination. This isn't usually done as part of NHS scan but if you don't want invasive testing they might do it, but the usual sonOgraphers are not trained for it. Anyway, the scan was done, nasal bone was there, risk down to 1 in 250 which was much more reassuring. DS2 now here, all ok.

If they won't do it, you can get his done privately if you can afford, about 150 where I am. Hope everything goes ok for you x

[SpagboLagain]

Ps I was also a bit annoyed that they just pushed amnio initially, assuming that's what everyone wants. When there are other less risky options.

[cherrybug]

Hi Pralines,

Sorry you're in this situation, it's a horrible worrying time. I was told that the 16 week bloods are not as accurate as the nuchal combined test and that there would be no point in getting them done.

I would say that nuchal measurement is usually much more telling than bloods - and you have a good nuchal measurement. Also for sure your age will have pushed up the risk considerably. Risks of miscarriage with amnio are very small but I can see why you'd be keen to avoid the risk if you can. Perhaps as Spagbol says a private scan may give you more reassurance. If you're near London the Fetal Medicine Centre is the best there is and will look for a range of markers giving you more accurate odds. Obviously though the only way of getting a definitive answer is via invasive testing.

Good luck, if you do have amnio make sure you rest afterwards.
Hope things work out for you x

[Sabriel]

I would say that is actually a really good result considering your age. My result at 43 was 1:24. I found out later - on MN - that the bloods will always come back high risk once you are over 40 so they really aren't much help.

Can you have a detailed scan? They can look for soft markers that would perhaps push you to/ away from an amnio.

I ended up having an amnio but only because DH was adamant that he didn't have the energy to care for a child with Downs syndrome at his age. By that time I didn't really want to test and I'm quite sure we'd have had problems if the amnio had given us bad results because unless they showed a life limiting condition I wouldn't have wanted to terminate. Luckily for us it didn't come to that.

[BBYummyMummy]

Hi

I'm pg with DD2 (I'm 32) - I came up 1:20 on my 12 weeks tests. I waited for an amnio as the risk was just 1% as opposed to CVS - You have to convert the result in a positive viewpoint. I looked at it that there was a 95% chance the baby did not have downs - for you that is 99% your baby is fine so don't feel pushed if you think these odds you can live with.
My amnio did not hurt just a little bizarre and results came back fairly quickly. Cold gel on tummy and little dart of needle - then a little pop as it goes through which was a little odd. Please do not worry its over in seconds. Just have to lie still - I closed my eyes and try to think calming thoughts.
It is very overwhelming - I like you did not even have any tests on my 1st daughter so it was a shock to get that result.
I wish you all the best with your decision

[rhetorician]

similar position really - 1:11 risk from nuchal and bloods - DP was 41 (and nearer 42) at the time; we did have cvs (older child, numerous other complicating factors) and it came back clear. DD2 was born early December and is absolutely perfect. She had a nasal bone, although this wasn't factored into the test - but it was a horrible time, and I am very glad we had the cvs, although I can see that it's not for everyone. Good luck with whatever you decide to do -

[lilmamma]

I had 3 children and no4 when i was 35 and my risk was high,cant remember the number,i went for the amnio,as i knew i couldnt cope with a disabled child and three other children plus 2 step children every weekend.I think they add a lot on when your age goes higher,which isnt a true reading iykwim. good luck whatever you decide,i went on to have a healthy little boy.

[Hpbp]

I have read a lot on the FMC and every one agree that it is a good place to get the risk of DS assessed.

I did not use it because I was confident with my hospital. My NT was good, combined test giving risk of 1/1694 at 11 weeks, but the 20 week scan came up with short long bones, which could have been a symptom of DS, so I had a amnio. I did not want it, 22 weeks in the pg at the time, I could feel baby already so the idea of MC was a very high risk compared to combined test result but my OH and mum convinced me, I have another child to consider as well... But what made me really change my mind was that I did not want to spend the rest of the pg worrying, it would have not been good for the baby.

The amnio was less painful and less invasive than I thought, the doctor was very sweet, took the time to explain again, made sure several times I was ok, showed me where baby was, where the needle was.... Of course during the week that followed the amnio I was watching for all sort of symptoms of MC, and luckily 3 weeks later I still feel baby moving. And the karyotype came back normal.

The choice is yours. As always. Look at the stats of your hospital re MC related to amnio. Ask to speak to the doctor who will perform the amnio. Know what you want to do with the results. I just want to reassure you about the amnio itself.

BTW I will be 42 and a half when baby arrives hopefully not before term.

[BeehavingBaby]

"I found out later - on MN - that the bloods will always come back high risk once you are over 40 so they really aren't much help."

I'm pretty sure this isn't true. I opened all the combined test results a few times as part of a recent work placement and remember older mums getting very low risk results. Not trying to be argumentative or distract from OP. I remember thinking how difficult it was to allow yourself to take the risk you were given at face value - you can't help comparing it with the baseline risk for your age.

[rhetorician]

beehavingbaby - I don't think the bloods will necessarily be high risk because of age (that can't possibly make any sense when you think about it!), but the combined risk includes a background risk for age which rises very fast after 40; with dd2 we did all sorts of complicated calculations, and even with elevated hcg and slightly high nuchal fold (although below UK cutoff) without background age risk, our baby would have been over the 1:200 cutoff for further testing that is used here. So the age risk can make a big difference, especially if you have a blood result that is a bit off

[HybridTheory]

I had a 1:12 risk at the age of 40. the NF measurement as 2.6mm but my bloods were bad. Had CVS and got the all clear.

Agree with Rhetorician that dont think bloods would necessarily always be bad as my previous combined test at age 39 had amazingly low risk odds.

[EATPRALINES]

Thank you all so much for your replies they have really helped. I feel very much alone in all this and trying to conceal my pregnancy is becoming very difficult. I am seeing the consultant next week as my pregnancy is high risk anyway so will try to find out what their amnio rates are. I am going to look into having a private scan but feel now that I probably need to have an amnio for my own peace of mind not just for the sake of my family.

[SpagboLagain]

Whatever you decide, hope you get all the help and info you need from the medics, and wishing you all the best x

[Hpbp]

Let us know how it goes. Best wishes

[rhetorician]

yes, good luck and do come back on if you need to talk - a lot of us would check these threads fairly regularly

[TelephoneTree]

I'm sorry that you're having such a worrying time. I have a 1 year old son with DS, who had open heart surgery at 7 months old. Feel free to ask me anything you like if it would be helpful.

We also have a 5 year old and a 3 year old.

[Boggler]

eatpralines I too am 43 with a history of miscarriages, I'm currently 20 weeks pg and following my NT scan my results came back as 1 in 36 which threw me into a complete tailspin. Like you I didn't know what to do but I knew I had to know one way or another what I was potentially facing. In the end I opted for an amnio after talking through the risks of mc and finding that my mc history ( all before 12 weeks) put me at no higher risk than anyone else. We went privately to the best consultant in our area and my results came back all clear, so I'm glad we did it. X

[MrsHelsBels74]

My combined screening came back as a risk of 1:71. I decided to have am amnio as I didn't want to go through all of my pregnancy wondering if the child would have Down's. I was told the risk of miscarriage from amnio was 0.5%, having had a miscarriage last year I was obviously concerned but thought that 6 months stress & worry wouldn't be beneficial either. The doctor who did it was very experienced & luckily the results came back 2 days later as normal. It's now been 10 days since the procedure & all is fine, it's been a huge relief & I can now get back to worrying about normal pregnancy stuff!