Confusing combined nuchal and blood test results - advise please - long!

[MildWest]

Had a combined nucal scan and blood test today to screen for chromosomal abnormalties, and have got a slightly confusing result ? advice please! A bit long sorry I got carried away with the facts!

The nuchal measurement (3mm) is just at the edge of ?normal range? therefore a risk of 1:50. The blood test came in at 1:3000ish so the combined risk is 1:361. The consultant (we went to a private clinic) said this was still officially low risk, but was bordering on the high risk category, which he placed at anything less than 1:350. He said we could either do nothing, or opt for a CVS test on the NHS on a couple of days.

I?ve also called the Ante Natal results helpline as I?m not sure what to do. They said that most NHS clinics class high risk as anything less than 1:250, so to be borderline at 1:350 is very conservative to say the least. She also said receiving a result of anything less risky than 1:250 through NHS screening would mean you wouldn?t be offered further treatment, so if we had been screened at an NHS clinic, further diagnostic tests would not be offered with our results.

So the confusion is this ? is the nuchal measurement a more reliable indicator than the bloods, and is this why the consultant (who also works at the NHS place we would go for CVS) is confident we would get a CVS test there, as the result is quite high on that score alone (3mm, 1:50)?

An overall risk of 1:361 translates as 0.3%, yet the CVS carries a 1% risk of miscarriage in itself.

Finally, even if we do go for a CVS and the result is positive, and I?m not certain I could go through with the ?next steps? if that makes sense, whereas as DP feels sure that would be the next logical step. I don?t want to put us at risk of miscarriage if I then don?t want to act on a positive result. Equally I don?t want to put us at risk of miscarriage if we are low risk by most guidelines.

A myriad of issues! Any advice from anyone who has been through something similar would be very gratefully received!! I?m a bit shocked and stunned this afternoon and don?t know what to do for the best.

Por you - how stressful. Haven't been through anything similar, but do know that the combined result of blood test + nuchal fold is more reliable than one of these on their own. So, don't focus on the 1:50, focus on the 1:361 to base your decisions on.
HTH

Mildwest, I cant really offer you advise on this but wanted to bump your post. I think the key thing here is whether you want to know for definate, that doesnt mean you would have to end the pregnancy but may also equip you with all the facts. I had a low nuchal result but i chose to have an NT scan as I wanted to know in advance if there was a problem so I could mentally prepare for it. I hope that makes sense and sorry for waffling.

I think you need to decide what you would do with the results.

There are people on here who have refused further testing when presented with high risk results because they would not have terminated. Have a search for eidsvold's posts. She went ahead with her pregnancy knowing that her daughter was very very likely to have DS - and had written about it very openly on here.

Ask about the nuchal measurement itself as well. When I had mine I was told that the size of the nuchal can give an indication of the potential disorder- so a very very large nuchal is associated with Turner's syndrome for example (XO- the effects are usually mild in terms of difficulties- the hardest one being that the individual is sterile).

Hi MW
I had a nuchal measurement of 2.1mm which gave me a risk of 1:50 due to my age (39). with combined bloods the risk increased to 1:30 which left me really stressed for a good while as I had expected everything to be within 'normal' range being the optimistic person I am

Despite the high risk we decided against further testing as we had already decided that we would not terminate whatever the outcome so no point risking mc (I have a previous history of mc). I am now 19 wks and all set for my 20 week scan so everything crossed that all is well with LO.

I think this is a very personal decision but if you would not terminate then you have to ask yourself why risk the invasive testing? Your risk looks pretty good from here anyway to me The initial panic does subside once your mind has had time to adjust btw. How old are you?

Thanks everyone. Having thought it through, I'm still quite confused why 1:361 is classed as borderline as it seems to be quite a long way off the national high risk cut off of 1:250.

Babycakes, I'm 31 so was (probably naively) expecting all the rosy!

We've booked in to go to the Fetal Medicine Centre on Monday to undergo their combined test - it apparently assesses nasal bone and heart valves as well as NT and bloods so more factors might make things clearer. Or perhaps I am putting off having to decide about the CVS.

MildWest

I'm wondering if the idea of 1 in 361 is being seen as 'high risk' because maybe a greater proportion of those who might choose to have extra investiations privately would want a greater degree of certainty that thier baby doesn't have any of the abnormalities they're testing for? But any single cut off between 'high' and 'low' risk is bound to be arbitrary, although 1 in 250 is the more usual one. It is quite close to the cut off considering that some odds are given in the thousands; but it's all relative. If you imagine the odds as a large primary school assembly hall full of children; one of those children has a chromosomal abnormality.

If invasive testing stands to put you and your DP at odds with one another, it might be a step too far for your relationship. If you feel that you need to know for sure more than you're worried about the risk of miscarriage, then you probably need the invasive testing. You will get a better idea at the 20 week scan, if you choose to have it, even if you don't go for the CVS.

Hi MW,

Just want to say I am sorry to hear about your stress! I went through the same thing, 31 years old and expecting everything to be fine. Even went for the NT scan by myself and ended up with a measurement of 2.8mm (1:63 risk). I didn't do bloods as that was not offered at my local NHS hospital (in actual fact, I believe with blood, my risk would have been much, much worst as at a later blood test, they did find that I have an elevated level of a certain hormone which could indicate a growth problem with the baby...).

I had a CVS done at King's College. Hospital and it really wasn't as bad as I thought it would be. My DS is now almost 11 weeks old and perfectly healthy.

I think you have made a wise choice going to FMC, best of luck! Let us know how you get on.

Ax

In reading your posting it sounds to me like you have already decided. If you don't want to risk miscarriage and you probably wouldn't terminate, the decision is made.

I felt similar last month and was very upset until I finally just trusted my instincts and decided against an invasive test. Since then I haven't looked back and know I made the best decision.

Trust what your feeling and go with it.

All the best

Thanks everyone. Riven, I agree and am starting to realise that knowing the risk of something happening doesn't help you decide what to do! In this case, even though it's possible to screen for DS, there are many other things that we can't screen for and would cope with if they happened. Just because we can screen for something, does it mean we should?

Everybody undertakes risks every day, but we still go about our daily lives rather than cowering under the sofa!

And if we do turn out to be that 1 in 361, then so be it. That's today's thoughts, I'll probably change my mind again tomorrow!

Well, we had our second test on Monday, which increased the risk to 1 in 15. Quite a shock that the odds had shortened so much - the nasal bone was present, but a heart valve is leaking slightly, hence the higher risk. So, we had a CVS test today. the test itself wasn't too bad, you don't really feel anything. Just waiting til Friday for the results now. Heads are swimming with statistics now - odds of miscarriage, odds of test not working, odds of DS. Blinkin' science.

I can really relate to what has been said on this post- I had a high nuchal test result (3.5 initially) and went for a second opinion at the Fetal med Centre. This lowered the risk as they measured it as 2.9mm.

What was quite shocking was the response from the screening midwife at my local hospital who was very taken aback that we didn't accept the CVS and continued to push us for several week about 'really thinking about our options'!

I did use her persistence to my advantage though and have got a referral to Kings, London in 2 weeks for a fetal cardiac scan and anatomy scan.

The whole experience has been really stressful and i can't but help to think negatively about this pregnancy that something is going to go wrong. If I go for a 3rd baby I will consider refusing all tests!! The more advanced technology gets the more stress pregnancy will be in the future. I never considered that I could have a result like this given my age (28) and rude health of my DS1,

Hugs to you-its devastating to be told that something could be wrong with your baby. On the positive side its given me time to reflect and realise that this baby will be loved no matter what the outcome is.

x

good luck mw, let us know what happens when you get the results back.

as yurt said - look for some of my posts - need to dash off to school run and playgroup so do not have time for a long post. Something that people are never told ( not sure why) an increased nuchal fold measurement can indicate a number of conditions other than down syndrome. One of which is heart defects. So that is something to keep in mind.

My dd1 was born with down syndrome and a congenital heart defect that was serious and fatal if not treated but with a very successful outsome if surgery went ahead. At 8 weeks old - dd1 had two open heart surgeries and has been in good health ever since.

To the poster who is going to kings - we had our fetal cardiac scans there where they accurately identified dd1's heart defect after the local hospital told us it was something as serious but with a lot less positive outcome. We were also given anomaly scans too after we refused to have an amnio.

The fetal cardiologist in fact said that if dd1 was born without down syndrome it would be very very rare. We have since learnt from dd1's cardiologist - the type of heart defect ( which they referred to as a hard marker) gives a chance of about 1 in 5 of having a child with down syndrome.

i think there are pics of her on my profile.

We had the CVS results back on Friday ? all clear for the quick result which means all clear for DS plus the other 2 they check for. We have to wait a further 5 days or so for the full result, but the reason we took the test was due to risk factors for DS which has now been ruled out. Still sporting a rather lurid yellow bruise, and still run the slight risk of infection from the invasive test ? though all ok so far and risk will be over by Tuesday.

As for the future, well the second scan we had at FMC pinpointed a slight tricuspid valve regurgitation (hence increased DS risk). The consultant we then saw just before the CVS said that it can be a developmental immaturity and can clear itself up over the coming weeks. We have an appointment with a Foetal Cardiologist in mid-June to do a thorough heart examination, so we?ll just have to wait til then.

Thanks to everyone for supportive posts. For anyone going through this in the future, the CVS test wasn?t nearly as bad as I had built it up to be. The anticipation was much worse, and we felt a sense of calm once the ?medical? bit was over. Though waiting for that phone call on Friday was not something I want to repeat in a hurry.

Hi to babyface, just joined this site and read your posting. Can I ask at what week of your NT the measurement was 2.1mm - as this is not normally considered high risk - I thought the cut off was 2.5mm. Please let me know as I am 38 (soon 39) pregnant with my third child and have just been told my baby's NY measurement is 2.1mm, but combined with my bloods my risk is 1:2200. Ps - I did my NT at 12 weeks.