Confused and worried about my nuchal result and what to do next

[artichokes]

I sort of posted about this last week but now I am posting again as I really do not know whether to have a CVS and would appreciate any advice.

Although I am an NHS patient I had a combined bloods and nuchal measurement privately at the Fetal Medicine Centre in London. The nuchal fold was measured at 3.1mm (big) but they give an overall risk for Downs based on several measurements the NHS don't use (nasal bone, tricupsid heart valve, face curvature and bloods). Despite the high nuchal measurement they gave me a 1 in 5500 risk of Downs but advised I have a detailed cardiac scan at 20 weeks in case the nuchal measurement is sign of a major heart defect (which they said there was a 5% chance it might be).

I relayed this info to my NHS consultant who said I cannot have a cardiac scan because my hospital's policy is to only give cardiac scans to babies with a nuchal measurement over 3.5mm (he did acknowledge that I have a 5% risk of major heart probs). However, his advice is to have a CVS because the nuchal measuremet was over 3mm - with that measurement the NHS would class me as high risk despite what the FMC said. Initially I saw no point in having a CVS as it picks up chromosonal abnormalities only (not heart probs) and the FMC scans suggested that my baby is very low risk for Downs and the other trisomys.

If the FMC are right and I have a 1 in 5500 chance of Downs (and 1 in 7000 of the other tricomys) then why risk a procedure with a 1 in 100 risk of miscarriage? However, my consultant said that the measurements the FMC used to give me such a low risk are not approved by NICE (and therefore are not available on the NHS). This is because they are not backed by enough evidence for NICE. He did however acknowldedge that the FMC are world leaders and have a great reputation and have pioneered pre-natal screening.

Sooooo. In my situation would you have a CVS? Would you kick us a huge fuss about not being given a heart scan when a world leading private doctor told you that your baby had a high risk of a cardiac problem?

And does anyone know if there are other chromonsal abnormalities that a CVS would pick up that are associated with an increased nuchal fold measurement and are not one of the three trisomy disorders that the FMC classed me as low risk for?

(Congratulations and thanks if you have read all this!)

Thanks for sharing your experience Eidsvold, I really appreciate it.

DH and I spent a long time last night discussing whether a CVS was worth it and what we would do if we were told our child had a chromosonal abnormality. I think we both agree we would continue the pregnancy if the baby had Downs Syndrome. What we are concerned about is whether there are other chromosnal abnormalities that our nuchal measurement may be an indication of, which would mean the baby would be very, very disabled. If we found out the baby had such a disability we are not sure what we would do. That is what I need to find out now - what other conditions could the nuchal measurement be an indication of? If it is Downs or a heart defect then that is obviously not good news but hopefully the heart defect would be treatable and we could continue to exist as a happy family. If it is something worse then I may feel differently.

High nuchal can be indication of many cromosomal abnormalities and also genetic disorders. Please don't make the mistake I did and start reading about all the possible syndromes -there are so many (take a phone book and look up a name, chances are that there is a syndrome named after that)! Even after our cvs came back ok I was reading about the rare genetic disorders that cvs doesn't show, very very stressing.

High nuchal measurement can also be -and often is- an indication of absolutely nothing, like Nicholaides told me himself. If I were you I would try to concentrate on the odds given to you.

Artichokes, this is difficult for you, and complicated. But

1. I trust the FMC. Prof knows what he is doing and if they thought a CVS was necessary, they'd advise you to have one (as they did with me). I think you might expect other markers for DS, in addition, which you don't appear to have - though I am NOT an expert.

1. If you can't get a heart scan on the NHS, have a private one - asap. You'll only go out of your mind with worry otherwise, and it sounds like your NHS consultant is quite obdurate.

1. If you DO have a CVS, have it at the FMC. The Prof does them all himself, he is the best in the world and the risk of miscarriage with him is minimal.

Good luck.

Incidentally, the other thing apart from the Trisomies the CVS tests for is Cystic Fibrosis. Don't think this is a disease of the heart though, but the lungs.

I'd be careful with comparing nuchal measurements - the precise number of weeks and days at the time of measurment, plus the mother's age, are important factors in determining a) whether it's an indication of chromosomal abnormalities (which can carry their own heart defects) and b) whether it's an indication of unrelated heart defects. Our measurement at (I think) 12 weeks + 6 was 3.1mm. Combined with my age (31) that gave us a DS risk of 1:50. Combined with the bloods, it gave a risk of 1:361. The consultant explained this was bordering high risk (the cut off being 1:300) and gave us the option of a CVS. He also explained that the nuchal measurement was below 3.5mm, therefore didn't indicate a risk of unrelated heart problems.
So, because we were 'borderline' we went to the FMC a couple of days later. The nuchal measurement had gone up (3.4mm) as the baby was bigger, the nasal bone was present but the tricuspid valve had a slight recurgitation. Combined risk shot up to 1:15. we had a CVS test the next day, which was clear. Had the risk gone down (below 1:400) we wouldn't have had the CVS due to it's inherent risk.
I think I learnt the following from the experiance:

• the 'markers' the FMC use are techniques which are just coming out of research therefore not currently approved by NICE. This may change in the future.
• if you do decide to have the CVS test, it's worth knowing that hospitals have very different miscarriage rates - ours does over 400 a year and therefore the rate is much lower compared to a consultant who only carries out 30-40 per year.
• there seems to be a lot of conjecture about the accuracy of the tests, combined or not. The combined test is only 90% accurate - that's 10 in every 100 women getting a false result.

So, we have a fetal cardiology appointment on Monday. If we had only had the original test, we would not have been offered this as we were below the 3.5mm cutoff for non-DS heart defects. Even if we had had the CVS at this stage, we would only have gone to a normal 20 week scan. BUT because the tricuspid reguritation showed on the second test (at FMC) the NHS suggested a detailed cardiology scan. The consultant said this can often be a slight immaturity that sorts itself. But, there is a precedent here for the OP in that the NHS (Bristol) have offered us a fetal cardiology scan based on results from a private (FMC) scan. Gosh, bit of a long one but think it demonstrates the complexities & issues these tests throw up. Final thought - I did read somewhere that the babies 'genetic' size can be a factor. Ours will quite possibly be a whopper (I was way over 9lb as was my mum)so that might be where it all started!

I'd be careful with comparing nuchal measurements - the precise number of weeks and days at the time of measurment, plus the mother's age, are important factors in determining a) whether it's an indication of chromosomal abnormalities (which can carry their own heart defects) and b) whether it's an indication of unrelated heart defects. Our measurement at (I think) 12 weeks + 6 was 3.1mm. Combined with my age (31) that gave us a DS risk of 1:50. Combined with the bloods, it gave a risk of 1:361. The consultant explained this was bordering high risk (the cut off being 1:300) and gave us the option of a CVS. He also explained that the nuchal measurement was below 3.5mm, therefore didn't indicate a risk of unrelated heart problems.
So, because we were 'borderline' we went to the FMC a couple of days later. The nuchal measurement had gone up (3.4mm) as the baby was bigger, the nasal bone was present but the tricuspid valve had a slight recurgitation. Combined risk shot up to 1:15. we had a CVS test the next day, which was clear. Had the risk gone down (below 1:400) we wouldn't have had the CVS due to it's inherent risk.
I think I learnt the following from the experiance:

• the 'markers' the FMC use are techniques which are just coming out of research therefore not currently approved by NICE. This may change in the future.
• if you do decide to have the CVS test, it's worth knowing that hospitals have very different miscarriage rates - ours does over 400 a year and therefore the rate is much lower compared to a consultant who only carries out 30-40 per year.
• there seems to be a lot of conjecture about the accuracy of the tests, combined or not. The combined test is only 90% accurate - that's 10 in every 100 women getting a false result.

So, we have a fetal cardiology appointment on Monday. If we had only had the original test, we would not have been offered this as we were below the 3.5mm cutoff for non-DS heart defects. Even if we had had the CVS at this stage, we would only have gone to a normal 20 week scan. BUT because the tricuspid reguritation showed on the second test (at FMC) the NHS suggested a detailed cardiology scan. The consultant said this can often be a slight immaturity that sorts itself. But, there is a precedent here for the OP in that the NHS (Bristol) have offered us a fetal cardiology scan based on results from a private (FMC) scan. Gosh, bit of a long one but think it demonstrates the complexities & issues these tests throw up. Final thought - I did read somewhere that the babies 'genetic' size can be a factor in the nuchal measurement. Ours will quite possibly be a whopper (I was way over 9lb as was my mum)so that might be where it all started!

Whoops double post. Also meant to say, if we had waited til NHS blood-only screening test at 16/18 weeks, we would have had a firmly low risk result at 1:3000ish, would never have known about the heart valve thing and probably had a lot less worry, stress and deliberation.

Thanks MW. It is intersting that you have read that 'genetic' size can be a factor in the nuchal measurement. DD was 9lb 4oz at just under 39 weeks so this one is likely to be pretty big too.

I had CVS done twice at Kings. It took 5 minutes each time and was completely straightforward and untraumatic. The 1% risk of m/c is averaged out from ALL practitioners, but individual practitioners at can have lower rates than this. I asked the doctor who did mine what her rate of complications was and she said 0.5%. I also think that some CVS's are bound to be more difficult than others - women with twin pregnancies, difficult to access placentas and with a lot of abdominal fat. I didn't fall into any of these categories.

Artichokes i've also been in your situation. I had an NHS scan that came up at 3.4mm (risk of 1:40 nuchal alone and 1:190 with bloods.)I went to the FMC for a 2nd opinion and they make the measurement 2.9mm -with their way of screening (with all markers clear) gave us odds of 1:12650. As the fold measurement was still at the high end of normal they recommended a cardiac scan at the 20 weeks scan (which incidentally i've just come back from today!).

We decided against CVS or amnio on the grounds that odds of 1:12650 were a lot better than 1:100 of miscarriage.

My NHS referred me to Kings College Hospital for both cardiac and anomality scans. Because there was such a discrepancy in the results of the scans they had to do it. Thankfully the result of the scan was totally normal and we have a healthy (and hefty) boy in the making- 95th centile already- yikes).

the FMC scan seemed to hold a lot of weight with both my consultant at my local hospital and at Kings today. My local hospital is going to do an investigation into how the scan results are so different and the report today showed that had I just had the scan at the FMC and the one today I would be classified as low risk.

The cardiac scan was extremely reassuring and they certainly took their time with me and made sure they were satisfied that all was ok.

Is it possible that you could see a different consultant for a 2nd opinion of the referral? Everyone that I have seen so far has taken Dr Nicholiades as being an expert in his field and it has really helped us with being taken seriously.

Good luck in whatever you decide- its a horrible thing to go through but sadly doesn't seem to be uncommon in the testing procedure. Its also seemed like an absolute age between my 13 week scan and the 20 week one today! Feels like I can finally start to relax about this pregnancy.