1 in 5 chance of Downs Syndrome

[lmac88]

I'm 24 and having my first baby (13w2d). I've just been told that I have a 1 in 5 chance of my baby having DS. This was a massive shock as was not expecting this at all. Nuchal measurement was 1.5 at 12 week scan and everything looked good so this has obviously been based on my blood results? After discussing with my partner we decided to go ahead with the CVS and I'm now booked in for tomorrow morning. I'm very nervous and just looking to see if anyone else has experience of this and if they have any advice?

I'm so sorry you're dealing with this worry. With such high odds I am not surprised you have opted to go for invasive testing and the quicker results (rather than the new non-invasive tests that take two weeks)

My last pregnancy I had a 1 in 34 and waited it out as there were no non-invasive options then and we wouldn't terminate. DS has typical chromosomes. It was ALL in the bloodwork - the nuchal measurement was fine.

This pregnancy I had a borderline nuchal (2.7mm) and again appalling bloods, my risk was like yours - 1 in 5.

Due to what happened to me last time and the new tests, I went for the Harmony test at 10 weeks so I had my results before I even had the NT screening at 12 weeks and those results show a chromosomally normal female. I don't know what I would have chosen to do without already having had Harmony and I'm so sorry you're in this situation.

What are your numbers? My bHCG was the driving factor this time at 5.43MoM, far above normal range of 1-2MoM. Last time I had 0.23MoM PAPP-A which is in the bottom few percentile.

During my time waiting it out with my last pregnancy I saw a lot of numbers and a lot of results. By and large, and this is purely anecdotal, it seemed to be very rare for a baby with a normal nuchal and bad bloodwork to actually be positive for a trisomy.

Was there anything else on your scan besides the nuchal fold measurement that could be driving the high risk? Absent nasal bone, possible heart issues? It seems like a very high risk number given the good nuchal measurement and your age to be based on bloodwork alone.

Good luck with the CVS tomorrow and with the results.

It's such a difficult decision to make re the CVS but neither me nor my OH could wait to find out.

I've not been given the full breakdown of bloods yet as was quite upset when the midwife called to give me the news so I guess I will receive all of this tomorrow.

There were no other concerns at the scan, well certainly not anything that the sonographer mentioned and she even pointed out the nose etc.

As you say, with my age and nuchal measurement I was very very surprised.

If there was a nasal bone then that is a great sign. Doesn't guarantee anything of course, but usually the absence of a nasal bone is a strong marker for there being an issue if that makes sense?

I hope they can turn the results around for you quickly. I actually had a late "safe" amnio at 32 weeks as we couldn't wait until birth to find out with DS. I got the results (Kings College) 30 hours after the amnio. The nurse rang at 9pm at night which I was not expecting, but very glad she did as I wouldn't have been able to sleep.

If you haven't already, have a look over on the antenatal choices and testing board as there are a couple of positive stories floating around there at the moment.

I'm 39, my nuchal was 3.2 and they don't look for nasal bone etc in my Trust. Yet my bloods were good, so they basically said "there there" and left me to it. I called the Fetal Medicine Centre who were very nice but gently indicated they weren't huge fans of the "blood tests as main marker" approach. I chose to have the Harmony scan with them as it tells you the risk on 99% of chromosomal problems (Down, Edwards, Patau), and as the nuchal can also indicate heart problems (in a lot of trusts you get a cardiologist scanning you if over 2.9) I paid for the Fetal Medicine Centre to scan me at 20 weeks rather than our local NHS Trust - would have been delighted to have Kings London do it, but not in the north of the South-West, where I currently live. It's such a postcode lottery, isn't it.

As far as we all know, things are fine - all my subsequent results have been normal to date. And I was also told that if they'd looked for a nasal bone that would have been helpful, as 60% of Downs-affected fetuses lack one at that stage. So yes, if your baby had one that's a great sign. Likewise the nuchal measurement indication isn't only for Downs etc., but can indicate heart problems, spina bifida etc, so a good result there is valuable on other grounds and can reassure you before your 20 week scan gives more info. It's a great result you had there on a lot of areas.

It's so scary and the wait horrendous, I know. I'll keep things crossed for you and hope you too have good news.

Well that's me just home after the CVS. Wasn't the best feeling in the world, then had to get blood taken and also an anti D injection so I'm all needled out! Also had a bit of a bleed this morning before going so I'm now going to take it easy for the next few days.

Just need to wait the longest 48 hours for the results.

Thanks for your comments and support!

Holding your hand. I went through this a few weeks ago. Its crap but you will get through it. At least you haven't got the weekend in the middle if your wait. My advice is try not to google. It will drive you insane and you'll still be no nearer knowing. Try and keep your brain busy on other stuff. Easier said then done I know. xx

Yeah pretty lucky that we'll have the results before the weekend, don't think I could have handled it!

I know what you mean with google, trying to steer clear as much as I can. Keeping myself busy with films while I'm resting!

Friday will be here before I know it

We had a 1:2 result for DS for our dd, this was from 12 weeks scan and bloods.
We event to kings for our cvs, they were so great,.
The cvs showed no issues and dd is a VERY noisy four year old now

Steer clear of of Google, have a quiet few days and rest up

Keeping things crossed for you! Glad the wait is so short.

You had a bleed? Have you had any others recently? That's very interesting actually! As recent bleeding can cause the blood hormone marker for bHCG to be raised (it's what I think is the reason behind my crazy high bHCG reading that gave ME a 1 in 5) - so perhaps that could well account for your increased risk.

Hang on in there - glad the procedure went well and hope you hear soon!

Great post from perfectstorm - I agree with everything there. There is definitely still a good reason to have the NT scan itself as the raised nuchal can mean other issues. Even the blood hormone markers can be indicators of later unrelated issues, so they're not entirely redundant.

CrispyFB thats the first bleed I've had to don't think I put that down as the reason for the blood results but that is interesting to know!

I'm glad we went ahead with the testing as I'm definitely someone who needs to do what lies ahead of me!

The midwives and doctors were really brilliant today, couldn't fault them (Edinburgh Royal). Just anxiously awaiting the results. Will keep everyone updated!

I really hope it all works out for you, we were given a 1/5 chance of patau syndrome and had a cvs it was an awfully long 5 days, all was well with our now 2 year old, just one marker threw the results out massively for us. Fingers crossed for you all

It could be possible that whatever caused the bleed today was present and still affected the results when you had your blood drawn maybe? Perhaps the blood was slow in working its way out? Hang on to that as a bit of hope

Did you get your numbers in the end out of interest? For what it's worth, and something they don't always tell you (because they don't always know!) really high bHCG or really low PAPP-A can indicate potential placental issues later on which necessitate a growth scan at 28 weeks just in case. Those are also the results that cause a raised result at NT screening too, so it's likely you have one (or both!) of those. It's not a high chance of there being an issue and even if there is, so long as you're monitored it should still work out well. Worth talking to a consultant about at some point!

After a VERY long 2 days, we finally have our results....and it's good news!!

Thanks for the support from everyone.

Now I can relax and enjoy the rest of the pregnancy knowing everything is ok.

That's great, enjoy the rest of your pregnancy,x

Oh brilliant, so happy for you! Hope you have a nice easy time for the rest of your pregnancy.

I'm very glad to hear your stress is over! Hope you have a very boring remainder of your pregnancy

Such brilliant news, will the hospital that did the cvs take on your 20 week scan too? There still concerns over what had caused the nucal score to be so wrong so we went to kings for the 20 week, it was the most amazing detailed thing, all organs were checked, placenta blood flow, brain development. It was a fascinating thing to watch.

Hope the rest of the pregnancy is great, I'm very happy for you

For anyone interested, I finally got my blood results back and got the breakdown: HCG 4.4 PAPP 0.24 so very high and very low.

I it my full results back last Monday and everything is completely fine. Still my sure what caused my bloods to be so bad! We also found out that it's a baby girl

Congrats on your healthy baby girl xxxx

Gosh yes - that was worrying bloodwork! No wonder you had such a high risk factor. But.. those numbers can mean sod all as well, as they seem to in your case. My low and high numbers have meant precisely nothing in the past too!

With PAPP-A at that level I'd hope they'd refer you for a scan at 28-34 weeks to check for growth just the same even though it's very likely there will be no issues. But otherwise, yay!!