Petrified. Just got 1 in 38 chance of Downs from Nuchal scan blood results. Advice please.

[HeyThereSantasGirl]

I'm 38 years old and am 12+4 pg with much much wanted DC3.

I've just been called by Babybond with results for my scan and blood test for my nuchal scan. For my age I have a 1 in 112 risk of Downs, my hormone levels give me a 1 in 240 chance, but the adjusted score for me personally is 1 in 38. This is high risk.

I've just come back from seeing my GP who was lovely, but said that she thought it was a serious enough result to warraant a CVS.

I am PETRIFIED. I don't know what to do. I think I'll probably hve the CVS done. Although I know this carries a risk of MC. Although I don't know what I'll do if the CVS comes back positive for Downs. I have 2 other DD's (7 and 3) and a lovely DH who is incredibly supportive.

I've had 2 m/c before this pg, so it's incredibly hard to get these results.

DH and I are seeing private OB/GYN on Saturday to get some further information.

I'm just a soggy weepy mess at the moment.

Any advice would be very gratefully appreciated.

Thanks.

Just wanted to say thank you all very very very much for all the information, advice and kind words.

DH complete convert to MN. He's staggered that women rally round each other so quickly in times of need.

Wishing you all a very peaceful and prosperous 2009. Hope you all have a wonderful night whatever you do. Will raise a glass (of lemonade) to you all at midnight.

If you believe in anything sepcial or god like, then if you have a chance, would you send up a little prayer for my LO. xxxxxxxxx

Good luck - it is a horrible situation to be in, and even worse if you feel that you are being pushed to a specific action that you are not really happy with. Remember that the chances that everything is OK are still far greater than the chances of a real problem.

I think the only other advice I would give is to treat any test that gives you odds (one in 38 or whatever) with a healthy amount of scepticism. The only way you can be 100% sure that the baby has Downs is after someone who knows what they are doing checks their chromosomes. And that still means an amnio or a CVS. While I devoutly hope that the marker tests have been refined since I went through all this, the fact remains that any 'marker' is subject to at least some uncertainty. And relatively few doctors or midwives can explain the real significance of that uncertainty at all clearly.

And I guess that the fact I am calling a 15 week foetus a baby makes it pretty obvious that I would not have terminated the pregnancy even if my son had had Downs. That doesn't mean though that I am not devoutly grateful that he didn't.

Another thought that struck me last night, about our attitude to the odds given.

When I was first pg with DS2 I found that my odds of him having DS - without any testing - were 1:40, as I would be delivering at 43. (As I mentioned before I was lucky enough to get them lengthened after the NT.)

On that basis, if you had a friend who was contemplating trying for a baby at 43, and asked your opinion on the risk of DS, what would your advice be?

As you can tell I am leaning towards you trying to see your odds as not so bad. But if I was feeling as you do then I would definitely try to get another nuchal scan done, and if still unreassured, then perhaps seek out someone like Cotedazur's doctor with a really good track record and get the CVS done privately.

Hope you are feeling a little better this morning. xx

Morning Ballonslayer. You're up early. DH let me sleep in. Bless him. Rough night as mind playing very bad tricks on me. So not a lot of sleep. But at least one day closer to seeing consultant and trying to get another nuchal booked.

Everlong and Neversaydie More wonderful advice. Thank you for your thoughts.

Just going to have to keep myself busy today (not difficult with 2 DD's!) and try and get thru anyway I can. I must remain posititve. And your comments are really helping me. Thank you.

I just wanted to let you know my thoughts are with you. I remember I was told I'd have to wait a week for results, but they actually only took five days, so I hope you get a happy phone call soon.

Hmmm. The more I read on here, the more it looks like you're going to be given a high risk status pretty much no matter what your test results are if you're over a certain age. I'm a late one too and have my NT and blood on Monday. Next week is my last week before being outside the test gateway so I think I may try to get an appointment with the Fetal Medical place others have recommended. It's a bit of a hike for me as I'm a good 2 1/2 hours away but I think it'll be worth it as I reckon I'm going to get a high risk result on Monday no matter what the measurements are purely due to my age.

To the OP, my dh has also been Googling and has seen nothing but people getting bad results and then having them redone at a specialist centre, only to have extremely different (better) results so I would get it done again if I were you. Lots of luck and please try not to worry!

Nekabu Thanks for posting. I wish you the best of luck for Monday. We've been in a living nightmare for the last day or so. Trying to decipher info from the net and also all the info that the lovely ladies on here have posted.

Am going to be posied over the phone early doors tomorrow to try and get thru to FMC.

Very best of luck, HeyThereSantasGirl. I have a feeling we'll be on the phone to them too!

HeyThereSantasGirl, there's a load of info on their website - www.fetalmedicine.com/fmc/ultrasound/11-13-weeks-scan/ has lessons on trisomy 21 and other test lession stuff. It does go on a bit but it seems to be worth watching.

Was given 1/33 at FMC. Subsequently decided to have CVS. If you book an appointment on a Wed and ask for Prof Nicholaides to carry out the procedure you'll be in the best possible hands. He does CVS procedures all the time. Miscarriage risks depend on how often the consultant does the procedure, which makes sense. I think it also depends on where the placenta lies -- I'm no expert but remember reading this at the time.
You'll get the results back 2 days later by phone.
All best wishes -- it's not a nice place to be.

Nekabu Thank you. Will have a look in a mo.

Doodleduck I've heard v good things about Nicholaides. Will try and get in to see him. If he's the best, then will move heaven and earth to see him. I hope your results were what you were hoping for. And you're right, it's a bloody awful place to be. xx

Just to add my bit. I had a 1:2 odds with DD2- so I know that feeling of shock. We did our research and to be honest we didn't know what we were going to do -except that we had to know.

I went to Prof Nikolidies for my CVS as I'd lost trust in my hospital and it was the least stressful thing about the whole emtional rollercoaster. He was honest and said that scan and bloods were 'as bad as they could get'. Luckily at the fetal med centre the results are back in two days - and all was clear of Downs. Obviously a relief and now DD2 is 7 mnths old and perfectly healthy.

However - I have friends with LOs who have conditions much worse than those that can be tested for.

It's a horrid place to be but remember they are just odds and not an exact science - even a 50 50 can go your way! Good luck x

Jeanjennie What an unbelievably tough time you must have gone through. Thank you for sharing your experience. And yes, you are right, they are just odds. The more research I do, the more I understand this.

I just wish I could wave a magic wand and for it to be tomorrow morning and I'm speaking to someone at the FMC. It could be another long, sleepless night.

The other good thing about CVS at FMC is that the doctor told me at the end of the procedure that the risk of miscarriage was significantly reduced. I was really cautious (now I think probably over-cautious) for about 10 days after the procedure, not least because it twinges and was a bit sore when I laughed for a couple of days afterwards. Procedure itself lasted no more than 2 mins.

You're right, it's all about odds. The results were fine and I haven't had a problem with the pregnancy since (28 weeks now) but it's v. scary when you think that the decision could result in the miscarriage of a healthy baby. For me that was the hardest part of it all. However, as the Downs' risk was higher I decided to go for it + the fact that waiting for amnio which in itself is no less risky really, would have meant waiting even longer, torturing myself!

Hope you get hold of them tomorrow and that it all goes well.

Hey Santa sorry for the delayed post.

When I found myself contemplating an amnio last year I felt exactly the same way as you - I HAD to know either way, and in the end that meant accepting the risks of the procedure, but it's a very individual decision.

Totally agree with what others have said about FMC and about Nicholaides. He sounds to be a man it would be worth moving heaven and earth to see.

I am almost positive that he repeats the nuchal as a matter of course before carrying out any sort of invasive testing.

I've been thinking since we were texting this morning of questions I would want answered. You've probably got all these, but...

1. What skewed your final result away from the blood and age results? Was it purely the measurement?

1. What are the risks of mc if an amnio or CVS is performed by him generally?

1. Does he think the mc risk is the same in your case? I mention this because although we decided to wait for an amnio rather than having a CVS (partly but not wholly because it was a lower mc risk) the consultant who eventually did the amnio said I had a higher than normal mc risk anyway due to the position of the placenta and the amount of fluid. Basically there was no way he could do the test without the needle going through the placenta, which increases the risk. if your placenta is in a similar position it may mean that there would be very little difference in risk between the 2 procedures, and of course the great advantage of the CVS is that it can be done as soon as you are ready. (If that's what you decide you want)

1. Can he look at your baby's heart? There are other health difficulties associated with DS, I'm no expert but I know that heart and lung difficulties are among them.

1. If your baby does have DS (pray god that's not the case) can he tell from the scans how likely it is to have any of the associated health difficulties? For me that would have been a key factor in the decision whether to continue with the pg.

1. what other 'soft markers' does he look for?

1. Does he look at presence/absence of the nasal bone? If not why not?

If you have your photos from your babybond scan I'd take them along with you.

By the way, in case you find yourself worrying that you might end up in our situation,please don't worry, you won't. We were actually low risk of Downs as all the hormone levels were so low, but we were at enormously increased risk of almost everything else.

I'll be thinking of you lovely, call or text any time you need to. Big (un-mumsnet-ty)hugs. xx

HerNameWas Thanks so so so much for this sweetheart. Really appreciate it. There's some great questions on here and I will get answers for all of them. Will call you later when I've got thru to FMC. xxx

I just wanted to let you all know that I have been able to book an appointment with FMC on Tuesday at 3.30pm for another nuchal scan and bloods. They have also booked me in for a CVS on Wed with Prof Nicholiades. I am hoping that the we won't have to go through with the CVS, but if we do, then at least we know that the best person in the world is doing it.

Thanks once again for all of your advice and kind wishes. I just need to hang on to that last thread of sanity until Tuesday. There is light at the end of the tunnel.xxx

Been lurking - great news that you've got those appointments. Hope all goes well for you.

Further to some postings recommending the Fetal Medicine Centre in London, I
I wanted to point out that there is an excellent 40 min video of Professor Kypros Nicolaides from the centre on their web site detailing the various chromosome abnormality tests and their associated rates of detection/accuracy. I highly recommend watching it.

Put it on 'full screen' on your computer (to see detailed graphs and charts) or plug laptop into your television and watch with you DH/DP:
www.fetalmedicine.com/fmc/ultrasound/11-13-weeks-scan/

It's not particularly pleasant subject matter, but enjoy!

Best of luck Santasgirl

At the beginning of this thread I thought: wouldn't it be great if she could get someone like that laaarvly Greek Doctor I saw on that documentary a few years ago.

Now his name has been mentioned I realise it was him - I used to work with someone with the same surname and it jogged my memory.

Sounds as if you are in the best possible hands.

Will be thinking of you.