Nuchal test, Blood tests... or both

[DuelingFanjo]

Hi there.
I was wondering if you could talk me through this whole testing thing.

I am 40 years old and conceived through IVF. I am just over 10 weeks and am quite confused about the testing I can have.

My (limited) understanding is that the blood tests (triple test) will be pretty pointless because my age will put me into the high risk catagory anyway and all they will then do is recommend an amnio. is that right?

So I am thinking the Nuchal scan is probably better? At least then I get some clearer pointers (fluid on the neck?) and can then make a more informed decision about if I want to have the Amnio?

Can anyone let me know if I am getting this all wrong?

Congratulations.

Yes the triple test will have limited usefulness due to your age. They don't even suggest it to women over 40 in my area! But that's another story.

A full nuchal screen will measure the nuchal fold, check the presence of the nasal bone, certain heart valves as well as bloods. These are combined into an overall risk factor for the main 3 Trisomies.

Dependent on where you live, this isn't available on the NHS but you can pay for it privately. Roughly £150 for really detailed info IMHO and very worth it. You should use a Fetal Medicine Foundation accredited sonographer, as they pioneered the test and have the most up to date information. See www.fetalmedicine.com

This gives great info on it's website about the various tests.

I guess you need to think whether you would have an Amnio. If you wouldn't then may not be worth having a nuchal. or the nuchal might help you make up your mind - who knows! There is alot of thinking to be done!

I had a nuchal, nearly had an Amnio then decided against. Felt the nuchal was really useful in helping make my decision. That's just me though. Nuchal is said to be up to 90% accurate in detecting a problem but of course can't give you definitive answer - only cvs or amnio can do that.

Good luck with what you decide.

Our hospital offers the combined test. They combine the results of the nuchal fold scan and the results of the blood test.

According to my age (36) my risk should have been something like 1 in 350. The results from my combined test showed a risk of less than 1 in 10,000 - so a huge difference.

Thank you both.

fifitot I have a feeling they would just suggest I go straight to Amnio here (cardiff) as that's what my GP seemed to be saying.
I am a bit concerned because all this was supposed to be explained to me by my midwife but I am still waiting to hear from her, a whole other annoying story.

In the absence of a booking appointment (where I think she'll tell me I have to go private anyway) I have contaced a local private clinic to ask about the Nuchal test.

I was assuming I can get the Nuchal test without the bloods/age thing? Or just with bloods?

I think the most accurate test is the nuchal with the bloods and your age. It's just rounded up and put through a computer programme to assess your risk.

The nuchal measurement alone isn't as accurate.

hmmm, so really I would need to have the whole shebang and the risk is probably going to come out high because of my age?

I thought the neck measurements alone would be an indication.

it just sounds to me like everything is pretty useless apart from the amnio.

No ! - they factor in the age to get the most accurate assessment, they have to really or it isn't very effective but if you read the FMF stuff it explains it really well.

Your age is your background risk and starting point. The bloods, combined with the nuchal measurement plus some of the other markers they look at can lower this risk significantly. Of course they can also raise it but at least it is as accurate an assessment as possible. In my case age alone was 1 in 25 or something, after the NT the overall risk was more than 1 in 250. This was because of the nuchal fold, bloods and other stuff they look at.

What you have to remember is that your age risk is based on a general population risk of any woman your age, the other results are specific to you - hence the way it comes out more accurate.

It is a far from useless test and really this combined approach is the 'gold standard' of non-invasive testing if you like. It is around 90% accurate in detecting a problem, which is pretty good.

Of course the amnio can give you the definate answer but there are risks attached to that as you probably know/

Try speaking to ARC www.arc-uk.org/

They are a charity with a ton of knowledge about fetal testing and they will tell you alot more than me and in more detail about the combined test (the one we are talking about.)

Thanks.

I guess I don't really understand it or how it can be 90% accurate. I am assuming that if I got a, for example, 1 in 40 chance of Downs Syndrome then they would just recomment the amnio anyway?

I'll take a look at the link

Well I am not an expert but just read alot about it when I was going through the whole testing thing.

What you may find useful to know is that the NHS usually has a cut off point over which they will recommend testing or not. In my area it is 1 in 200, so unless their test showed you at a higher risk than that they wouldn't offer you an amnio.

The cut off point varies but is usually between 1 in 150 to 1 in 250.

The accuracy of the Nuchal screening tests is based upon research in detecting a problem.

Just read around the subject a bit and you will feel better informed. Bear in mind that there is a time limit to the nuchal test.

www.mums.me.uk/nuchalsummary.html

This is also a useful summary.

Hi There

I have debated with myself whether to add a comment here as I don't want to unecessarily worry you but I thought on balance it may be useful.

Essentially, from my experience, to get the most accurate assessment of risk I would advise the triple test plus nuchal scan.

I (aged 39) had a scan which was great, nuchal fold of 2mm, both nasal bones present, no heart issues, all fine (the scan technician said congratulations to us as we had previously had a heartbreaking ectopic pregnancy and tube removal 6 months before) but then the bloods - and only one blood measurement the Papp-A came back as extremely low .24 - which took our risk from a natural age related one at this partic clinic of 1:85 (with just the scan it would have been 1:400) to a 1:3 risk of Trisonomy 21. As we had made the personal decision not to continue the pregnancy if the baby had this condition (and please I know everyone has different views on this so not looking for comments on this decision nor do I mean to be insensitive to those who have DC with Trisonomy 21) we had a CVS and unfortunately we were the 1:3.

So we were terrifically unlucky and I am sure all with be good with you Dueling Fango, but I don't think you can rely on the scan alone - or at least this was my experience.

I hope this helps you make your decision and again I really hope that this doesn't serve to unnerve you - I was the 1:100 at my age and am sure you won't be - but if it is important for you to find out the risk have both tests.

Good luck xx

Thanks both.
I am utterly confused at the moment. On the one hand My Dh and I have spoken about the risk of Down Syndrome and agreed we would terminate if it was definitely downs, on the other I am dithering about if I would have the Amnio even though I know it really is the only way to know for sure. part of me has a 'whatever will be will be' attitude towards this pregnancy.

I know I am probably being a baby about this and that the other tests probably are pointless and I should be sensible and just have the amnio and be done with it. I suppose I am just scared of the miscarriage chance.

One of my best friends had high risk for all her children but only had the amnio once. None of them had DS or any other kind of disability. She tells me that when she did have the Amnio she researched the doctor and made sure she got one who had done a lot of Amnios but I don't even know where to start with this and always assumed that you get who you are given.

I think I need to do a lot more reading and make some serious decisions.

DF - the other tests are not pointless. They give you more information to help you make up your mind about whether to have an amnio or not.

Look at it this way - if you got 'good' results of say risk of Downs or other Trisomies as 1 in 500, from your nuchal screen, they you would have to weigh that up against the miscarriage risk of apx 1 in 100 and decided. There is nothing wrong with being scared of this - I was. Especially since you have had IVF to get this baby.

However if you definately would terminate then all of this is probably not that useful to you and maybe go straight for the Amnio. Yes they are usually straightforward but there IS a risk.

It's a tough decision I know. Speak to ARC - think they only open during the week though.

Also read some of the threads on here - gives you a good overview of where other women have struggled with what you have struggled with.

Sorry - typing too quickly. Excuse the errors.

Sorry but I'm not wanting to get into a discussion about this being my only chance of a baby. Yes, I had IVF, Yes I would most probably terminate if I knew I was definitely going to have a baby with DS.

Thank you fifitot. I will speak to ARC, have had a look at the website and it looks like they will be helpful.

Duelling - there is an amamzing clinic in Bristol based at the Spire Hospital here they were fantastic and we had the bloods, scan and results all within a 3 hour time period. We are seen by a fantastic consultant who talked us through all the points of the tests, risks and what they meant and only then gave us a result. We paid £190 and in our mind it was well worth it. Ours is also a fertility baby and if she doesn't make an exit attempt soon I will POP!

Hey There

Fifitot has a good point about the tests not being useless although it really depends on your personal attitude to risk.

For example do you have in mind what level of risk you would be comfortable with? For example if the risk came back 1:400 (say 4 times less likely that your aged related risk) would that be OK for you? Or it may come back much higher. You would then avoid the risks (around 1%) of a miscarriage that comes with an invasive test.

Similarly, if you feel you would have an invasive test (like an amnio or CVS) unless you had a hugely low risk and that if it was a bad result then you would terminate the pregnancy, then then the combined test and nuchal may be useful in which test you have. For example as I had a huge 1:3 chance I decided to have a CVS which although carries a slightly higher risk of miscarriage it does mean that if the worst comes to the worst and you do have to terminate the pregnancy for any reason you are likely to be able to have a surgical termination (general anaesthetic) at a much earlier state (12-13 weeks). If you had a lower risk - say 1:300 - but still wanted to be sure, then you may chose to have an amnio at a later date (although this would mean having a medically managed terminatation which means you have to give birth to your baby). Or you may be comfortable with the level of risk.

This all sounds very clinical and of course the reality is that all these decisions are fraught and emotional and terrifying.

Everyone is different but I would personally advise the nuchal and tests before you leap into an invasive test - hopefully you are worrying unecesarily and it will come back fine.

Good luck with whatever you decide xx

Hello DF

just a little local perspective for you. I live in Cardiff and, if going private is an option for you, then I can strongly recommend Innermost Secrets (ghastly name, brilliant clinic). They are based at the Spire and the consultant Bryan Beattie is a true star.

He is a champion of the nuchal and will give really sound advice on what the next stage should be. Then, should you need to contemplate further testing, his MC rates are low for CVS and amnio. And he has time for you and will listen. He has seen us through so much and in my mind, nobody comes close.

All the very best for a good outcome, whatever you decide to do.

Many thanks Shangrila and everyone else who has posted. I have contacted innermost secrets to ask some advice and prices.

I've had a think about all this this morning and I think I've realised that having all the tests is the best way to go forward and then if I am advised to have the Amnio we can sit down and seriously talk about it.

Although it may not sound like it, I am really very positive and happy about this pregnancy. I just need to be more informed.

Oh and I need my bloomin' Midwife to get in touch with me!

Of course you sound positive about your pregnancy! Just because you are contemplating testing doesn't cast a shadow over how you feel about it. You are doing your research and doing all that you can to make an informed choice. And we all appreciate that it's a stressful time.

You might know (and excuse me if this has already been explained to you) but you can also access Mr Beattie on the NHS via the Fetal Medicine Unit at UHW. Same standards of testing, just a little less personal service and individual care than the Spire. If you told your GP you were contemplating invasive testing they should move fast and perhaps fast track a referral to the midwives clinic. My gp has previously faxed a form in my presence. I've used both Spire and UHW and whilst I prefer the relaxed atmosphere of Innermost Secrets, the NHS clinic is fab too.

One more hint - hope you don't think I'm preaching. You might want to chase up your midwife. One unsuccessful pregnancy of mine saw my midwife not getting in touch with me until 12 weeks. Really problematic in terms of testing options. If you are planning to deliver at UHW, you can call the Community Midwives office Monday to Friday and find out what's going on / remind them that you exist. I'm sure the same arrangement exists if you're planning on going with Llandough. Again, apologies if this is known to you.

Hi there Shangrila thank you so much for responding.

My GP seemed to suggest that I would be referred straight for an Amnio. I did ask about the other tests and he said to speak to the midwife. I think, after reading what you have said, I will try to contact my GP (If I can get past the horrible receptionist I spoke to on Friday) and see if he will fax for me. Maybe booking an appointment would be the quickest and easiest thing.

I think what you are saying is that I can get these tests at UHW? I wasn't aware of that. Is it still something I would have to pay for privately (I mean a Nuchal scan and blood tests rather than the Amnio).

Thank you for the info about calling the community midwives, I will give that a try. The Gp receptionist told me it could take 15 days for the midwife to contact me, although she has picked my notes up from the surgery 5 days ago. Another 10 days would make me 12 weeks.

DF, I'm in Scotland so it might be different here, but anyone over 37 years old is offered an appointment with hospital fetal medicine clinic for an initial scan around 7/8wks and to discuss testing options, as statistically the risks of problems do increase with age. With my DS I was only just over 37 so had to push for this; second time around I ended up chasing the hospital and only then discovered that my letter from GP had never been sent/arrived. So 1) I'd phone the hospital direct, as GP sounds like they have made their own decision about what is 'right' for you... and 2) I would ask them what the policy is re being older, as seems odd that you may not be offered all the options for testing/screening. Would definitely recommend nuchal/combined test if they offer it, as if your risks are low you can go forward knowing you don't need to risk invasive testing. I've had CVS with a previous pregnancy and I believe you can ask your hospital about your own consultant's stats, which may be lower than quoted national average; if Shangrila recommends someone they will be v good.

All the best!

Hi DF - not stalking, honestly!

The only thing they won't do at UHW is a formal nuchal 'risk' rating ie combined with bloods. However, I have had a couple of CVS procedures there and on both occasions, the nuchal was measured and advice given. We opted against nuchals in our most recent pregnancies because of a dodgy history and additional risk factors which made invasive testing a given for us. However, if you're keen on the full nuchal result, then you'll have to go to the Spire (I think. This was the picture last July, when we last went through this.)

If you do go down the nuchal route at the Spire and then opt for further testing, you can continue on privately or go with the clinic at UHW. After a bad private nuchal, I was seen and tested within about two days at UHW on one very stressful occasion.

Actually, what I seem to be saying in my rambly way is that once you are in the system, they will look after you beautifully, regardless of where you end up going. But I would start things moving soon. As you have no additional risk factors, other than age, you might find a nuchal scan a good place to start, but it's such a personal decision.

Feel free to email if you feel you're going round in circles - or if I've muddled you further! And do let us know how you get on.