Please help - confused about test results!

[Gossipgirladdict]

Hello, I'm a first time poster here and it's going to be a long one, but will do my best to condense it!

Basically, I'm 13 weeks pregnant at the age of 44 (yes, that's not a mistake). Total shock pregnancy, have 1 DD age 5, born after IVF due to endo, blocked tubes, loads of gynae problems. Has taken us weeks to get our heads around this pregnancy and though I am totally freaked out by the thought that I will be nearly 50 when this child (touch wood all goes well) goes to school, we are very happy.

We had our Nuchal scan and blood test last week at 11+5 (dates matched up with mine exactly-we know when it happened!). Nuchal was measured at 2.2mm. Sonographer said she was looking for below 3.5mm but after my own research I was hoping to see less than 2.5mm, so we were fairly happy. Nasal bone was visible and all looked good for that gestation. CRL was 51mm.

We got a call this week to say our risk was 1 in 19 for Downs. Background risk for my age is 1 in 33. We knew we would come out high risk but were hoping to come out nearer to the background risk and would have been delighted if we'd come out slightly better and would have taken those odds.

We went to see the consultant yesterday and had assumed that it must have been the bloods that increased our risk. The consultant was pretty rubbish but I asked for the actual figures (having obsessively googled) and they were these:

PAPP-A 0.78 MoM
HCG 1.27 MoM
Nuchal 1.67 MoM

He could not tell me what these meant, but I had found something that said these figures increase the risk above the background level.

PAPP-A below 0.64MoM
HCG above 1.67 MoM
Nuchal above 1.46 MoM

So, if figures similar to these have been used it would seem it's the Nuchal that has pushed our risk up. I've tried finding the online calculators I've seen mentioned but can't seem to get them to work.

My question is really, are my results really that bad? If the bloods are both ok then the Nuchal must be really bad to increase the risk, no?

I've also seen figures that say that 1 in 4 women of my age will come back as screen positive and I can't believe that. How fantastic must their results be to come out better than 1 in 150? Or are my results just really terrible?

We really don't want an amino or CVS but am not sure I can go through the next 6 months worrying like this. We didn't have any tests with DD, just went on what we saw at scans (which I had loads of because I kept bleeding).

Any advice, especially on the actual results (I'm a scientist and need to understand where the figures come from) would be greatly appreciated.
Sorry for such a long post....

Faith

First of all, congratulations on the unexpected pregnancy.

I can't answer re the numbers but I just wanted to post some sympathy - it's very stressful, I know because I've been there (slightly different circs). I ended up having an amnio and then in subsequent pgs, 2 CVSs because I couldn't deal with the stress of not knowing.

If you are in or near London you could think about talking to Prof Nicolaides at the Fetal Medicine Centre. He designed these tests so knows what he is talking about - he's very much in demand though.

I hope you get someone more informed who can help with your specific question.

Your nuchal and bloods don't look too bad at all from the (little) I know about this.

I know what you mean about wanting to know more about the actual results. I found it's difficult to find information on what are high risk/low risk NT and blood results, because this varies according to how many weeks and days pregnant you are. A lot of sites just give the average. So it's hard to find info specifically for 11+5.

I had my scan and bloods at 11+6. I think they gave me the averages for that level of pregnancy, which I have at home. I will see if I can find them and will post this evening or tomorrow for you.

I remember I had NT of 2.6 and they thought that was a little high for 11+6 but only a little and not too worrying by itself (it was the bloods that really gave me a high risk).

I would guess (again, based on very little knowledge) that it's your age that's mainly pushing the risk result up rather than the NT or the bloods. They factor in age as well as nuchal and bloods. The stats say 1 in 40 pregnancies at age 44 will have Downs so all women that age will start with a notional 1:40 risk before they have any tests. So it only takes a slightly too high NT to get you to 1:19. Does that make any sense?

Just to suggest another option other than cvs/amnio, you could consider paying for a specialist private scan which would look for more detailed "soft markers" eg nasal bone, heart formation. The Fetal Medicine Centre in Harley St that dr mentions is renowned for these detailed scans. This is non invasive unlike a cvs/amnio.

Sorry, that was quite a factual and not very sympathetic sounding answer!

I am very sorry you find yourself in this position - it's a horrible worrying time which I went through a couple of weeks ago (I had a cvs in the end and results were all clear).

A 1:19 risk means a 95% chance your baby does not have the syndrome which is pretty good odds. I really hope all turns out fine for you, I will see if I can find the results I mentioned later today.

Hi, thanks to both of you for your quick replies....
How I wish we were near London! We are out in the wilds of Cumbria so London would be a stretch within the time frame we've got. I did ring the clinic we had our (private) IVF at today as I know they do Nuchal scans and we're willing to pay for it. Plus it's in Manchester which is far more do-able for us. They said they'd need a referral letter from a Dr or consultant before they could see us. I was hoping we could just pay to have one done. I don't know how a Dr/cons would feel about that considering we've already had the test, so turned to Mumsnet as I know there's tons of good advice on here.
Just knowing I'm not alone helps enormously.....

mini pie- if you could find those averages you mentioned that would be great, that's the kind of thing I'm looking for.

I know there are no guarantees without amino/CVS but just feel that with as much information as possible we can make our own informed decision.....
Thanks again...

sure, will dig them out (assuming I'm right in remembering that I got given those details, might be misremembering)

best wishes in the meantime.

gossipgirl, it seems odd that your clinic needs a referral if you are willing to pay. I would have thought they would be happy to take time on this with you. I wonder if anyone can recommend a more patient-friendly and reasonably local consultant who could see you at short notice and take some time to review your numbers. Hope someone knowledgeable and northern will be along soon!

Hi there, congratulations on your pregnancy! Sorry you have this worry though.

According to this site: Rump and Nuchal Translucency.htm, the "expected" nuchal (50th centile) for your gestation is 1.44 mm. Your NT measurement is the 91st centile for this CRL.

Personally, I don't think 2.2 mm is too bad at all. Mine at 12+0 was 2.1 mm. I was aged 40 and baby had one other soft marker of Down's syndrome (tricuspid regurgitation), which gave me a risk of 1:26. I had CVS and my little one is fine. The fact that the nasal bone was there is very reassuring.

You've only got until 13+6 to redo the nuchal so time is a bit tight. If you wouldn't have CVS/amnio, then I would just try to put the worry out of your mind for now and perhaps opt for a more detailed private scan at 20 weeks. Many babies with Down's syndrome have heart abnormalities so an echocardiogram at 20 weeks should pick up any heart issues.

Hope this helps and best of luck!

Hi, just checked and I only have info in my medical notes about the normal NT (not bloods) - which tallies with the info Yaya has quoted.

Best of luck x

If you can't get to London to see the professor then maybe speak with arc, google for them. They gave me excellent info.

Hiya...
It's 2.15am and I can't sleep. Not so much because of the worry, but because my bloody restless legs are killing me....
Thanks for your replies.

Dr- yes, I was surprised that clinic wouldn't do anything without a referral. I thought if we were paying then we'd just be able to go and have one done.
I'd love to speak to another consultant but the one we saw is the only one locally. We saw him when I was pg with DD and I thought he was rubbish then. However, mini and yaya have pretty much answered my question....

Mini and Yaya- thanks for the info. Looks like the Nuchal was much worse than I thought then. Though I know technically it doesn't mean anything is wrong. It is more worrying though. I'm almost beginning to wish we hadn't had the test.... Sometimes ignorance is bliss. I just thought I really should because of my (very) advanced age...
I had thought that we would wait for the 20 week scan to see if any other 'markers' are picked up (especially the heart). Right now 20 weeks seems a very long time away....

Squids- thanks for replying, I think I will get in touch with arc, see if they have any info/advice.

Right, off back to bed.
Thanks again

Gossipgirl, I would second contacting ARC, they will be able to explain to you why your risk went from background risk 1:40 to actual risk 1:19, in an objective and factual way, and provide you with some support. I strongly suspect though that it's a small move due to your age as the nuchal is above "average" but still very much in the normal range.

I had my DS2 when I was 35, but had much worse blood results and a higher nuchal than you at 2.6mm (but was told that this was ok in itself), giving a result of 1:15 - and my little boy is fine (although he does have a fat neck...). Had I had your results my risk would have been low risk rather than very high risk - your age is definitely giving you this scare.

Personally I needed to have a CVS as I couldn't cope with the not knowing. But I also recall how scary it was making that decision and I know that it's not for everyone.

Your NT really still isn't that bad, honestly. I have read tales of women with NT of 4, 5, 6 etc and everything was still fine.

ARC is a good idea.

If you were 25 you would be low risk with the same results. The biggest factor here is your age not the nuchal fold reading. If I were you I would have to have an amnio so I knew for sure but the chances are that everything is fine.