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!)

thats still 95% chance your baby has a normal healthy heart.

would a major heart defect be picked up at a normal 20 week scan? and the referred on?

I can't answer all your questions but my friend's son's heart defect was picked up by Nicolaides at the nuchal scan. So, yes, I'd get your nhs hospital to do a heart scan.

have you looked at the ARC resource website?

i cannot say whether i would have a CVS.. depends if the odds of it leading the loss of a potentially healthy pregnancy was better or worse than the odds of something bad being confirmed,

there is a 95% chance your baby's heart will be ok. i suppose what it boils down to is how serious the condition would be if your baby is in teh 5%

i would go for the heart scan if anything out of the two, privately if necessary.

In your situation (which I wouldn't be in, because I wouldn't have had the nuchal in the first place) I would NOT have the CVS, because, as you say, it carries a miscarriage risk which I would not want to take.

If the NHS won't offer the cardiac scan, and don't believe that a major heart defect would be picked up on the 20 week anomaly scan (surely it would be?), then, in the quest for reassurance, I would pay for the fmc to do the scan that they are recommending.

If this was me, I would do the following:

1. Don't have a CVS, risk not worth it (IMO)
2. Get the heart scan done privately at 20 wks if poss, in case there is any condition that can be treated in utero/shortly after birth. However try first kicking up a fuss with NHS/checking policies of other NHS hospitals that you could change to.

Also, remember in some areas (like mine), nuchals are not available on the NHS at all so loads of people never have them at all. I would presume, therefore, that the 20wk scan has a reasonable chance of finding heart defects?

Hiya. As you know I was kind of the other way round. 1:14 risk for Downs and increased risk for other trisomys (can't remember the exact figure). Despite this we still refused amnio/CVS and as it happpens dd4 has a heart condition.
At the end of the day it is your decision but I personally would push for the cardiac scan (or go private but I think it's bad that you may have to do that)

could you have a cardiac scan at the fmc? i don't think i'd have a cvs in your position.

I don't want to sway you with my experience on this because it's an unusual story but all I would say is that I have had amnio and CVS for various reasons.

If it helps at all, I didn't find either difficult or traumatic and I believe that the MC risk is really very low if you have them done by very experienced people.

I know that doesn't help with your situation particularly but I think there is a fear of CVS and amnio unnecessarily sometimes.

I agree with CAn't sleep. FWIW, I had a similar nuchal measurement with DD but a much higher risk of Downs and was not advised either by FMC or by the hospital to have a CVS. Again, FMC advised a heart scan (which my London hospital provided) and if there had been markers, I may have gone for an amnio after that.

If your NHS trust really won't provide it, go back to the FMC because they have a much better idea what they're talking about than most.

The FMC and the NHS are in two diffrent leagues when it comes to prenatal tests. I would do what the FMC advises. They are the best there is.

I'd skip the CVS and get a heart scan at FMC (Assuming they offer them).

My lovely Artichokes

First of all, as Misdee says, if your risk of serious heart defect is 5%, there is a 95% - 19/20 - chance that all is well.

I'd push for the cardiac scan on the NHS. Presumably the FMC could give you a cardiac scan if you needed one (though of course you would have to pay).

I would ring up the FMC and get one of the Drs to talk to you again about the risks of the baby having DS before you make your decision. Have you had any thoughts about what you would do? If you would not terminate the pg if you had a diagnosis of DS, is there any point in having the CVS? If you would think about not continuing, I think you need to chat to one of the Drs again before you decide. What exactly are the implications of the 3mm reading? Tell them what your NHS man said and ask them for their advice.

CVS is a hard decision. On your odds, you are 55 times more likely to have a MC than a baby with DS. I appreciate you may be the 1 in 5500, but should you take the risk? As you know, I went to the FMC and got good odds too (about 1 in 3700). I said to the Dr that presumably I didn't need a CVS. He said that it was my decision. The odds were small but if I needed to know for definite then I should have one. I oohed and ahhed and didn't in the end. Part of me wonders if that was a bad decision (even though my odds are good, I am old and a worrier) but too late now.

I really feel for you. When I had DD2, Kings told me there was a high likelihood of a problem when I was scanned there. I got a second opinion at the FMC and it really helped. In your shoes, I'd sort out the CVS issue and talk to the FMC again for now. You can decide what you want to do abou the cardiac scan later on.

As I said, it's horrible when they spot something which might cause a problem. The week between the king's scan and the FMC one for me was one of the worst of my life. The wonderful people at the FMC made me feel so much better. Why not give them a bell tomorrow (not today as it's CVS day and they're all busy) and see if they can help you sort out that pressing issue.

Big love darling.

I would follow the advice of the FMC and have a detailed (private) cardiac scan to put your mind at rest, but skip the CVS with your odds.

I agree as you have such a low overall risk of downs it doesn't seem necessary to put yourself through a CVS.

I had a similar nuchal measurement, 3.Omm after a scan done privately at our locaL hospital in Kent and while there was a low overall risk of downs they did recommend I had a heart scan at 18 wks.

I think it depends on which health authority you come under and what their cut-off is, mine was 3.0 so they had no problem referring me to have it done on the NHS. It was done at the Children's hospital attached to St Thomas's in Waterloo which apparently is the best place for foetal heart scans. I think any abnormalities in the heart would probably be detected at the 20 wk anomaly scan but the point of the specific heart scans is that they can be done earlier (the equipment and technicians are more specialised) and so you can rule things out sooner.
I think you should ask for a second opinion or ask to be referred to St Thomas if you live in London anyway. It seems unfair you would have to pay just because your local cut-off rate happens to be a bit higher.

Take some comfort from the fact that your measurement is only borderline though, the fact that the cut-off rate changes from place to place shows that it's a bit of a moot point and health professionals seem to differ on what is a 'normal' nuchal measurement. 3.1mm means there is only a very tiny increase in the chances of a heart problem and as the poster above said, a 95% percent chance there's nothing wrong your baby's heart. Why not push for the test, just to give yourself some peace of mind, but it's very unlikely you have anything to worry about.

i was at st thomas's yesterday have my first fetal cardiac scan at 16 weeks. they were very good.

In your position I think I wouldn't have the CVS. If I did have it done I'd have it done at the FMC rather than on the NHS because FMC have a very low miscarriage rate. But I think I'd be more inclined to see if the FMC did private heart scans or could recommend somewhere that does, and have that scan done privately.

It does seem bonkers that the NHS will provide an invasive test with a risk of miscarriage for a condition that your baby has a 1 in 5500 chance of having, but not a non-invasive risk-free test for a condition that your baby has a 1 in 20 chance of having, though.

Thanks for all your lovely posts and advice.

I know the FMC have a great reputation and am glad that is the view here too. I was just a bit taken aback when my consultant seemed to imply that the FMC methods of calculating Downs risk were experimental. He seemed very sceptical that I could have a nuchal measurement of 3.1mm (which if considered alone gives me a more than 1:50 risk of Downs) and yet be told that my overall risk of Downs is 1 in 5500. In his mind he clearly thinks I am still at higher risk from Downs than the FMC think. Until the consultant voiced his scepticism I totally trusted the FMC and beleived that my baby's only high risk was from a heart defect.

I will pay for a private cardiac scan. They do them at the FMC (although I would love to get a referral to St Thomas'). My only concern about going private for the cardiac scan is that if problems are found I will have to go through this whole stress again of trying to get the NHS to pay attention to problems found through private screening. I also think that is is stupid, as PortandLemon observed, that the NHS is willing to pay for an expensive and dangerous test for a disorder that my baby is not classed as high risk for, and yet will not pay for a safe test for the disorder the baby is at high risk from .

Artichokes, your consultant's opinion seems a bit out of line with the current thinking on combined nuchals, from what I gather they are considered more accurate than just a nuchal measurement alone as this can often be misleading.

You're perfectly justified in asking for a second opinion from another consultant and then you might get a referral for free. That said, I know it probably seems like a hassle to go down that route and going privately through the FMC is probably the least stressful. Just seems unfair that you have to pay and that your doctor isn't supporting you.

Thanks MK. I think it is unfair, esp now you have told me that other health authorities agree to cardiac scans for measurements above 3.0mm. The consultant made it sound liek to do so would be against national NICE guidelines. I am writing him a stiff e-mail right now.

I would trust Nicolaides over a general hospital consultant.

I wouldn't have CVS (although i kind of woudn't anyway so not the best person to ask, but trying to be objective)

But I would try to get a heart scan and would pay if I had to (although think that's shocking to have to do that). A heart condition might need special treatment at birth so always best to know about in advance if possible.

From what I remember, higher than 3.5 they will refer you for a scan earlier possibly 16 weeks (like the lady above) but for 3.0 and over they consider it slightly lower risk so they wanted me to wait till 18/19 weeks. My hospital comes under Tunbridge Wells & Maidstone NHS trust, if you need to quote an example. Good Luck!

To be fair to your consultant, NICE guidelines do say "Routine screening for cardiac anomalies using nuchal translucency is not recommended." (they looked at various studies and concluded that "The reported sensitivity and likelihood ratios of nuchal translucency measurement to detect cardiac anomalies ranged widely by centre and condition, and generally the technique seems to
have poor diagnostic value.") The relationship between increased nuchal translucency and cardiac defects is an area they recommend for further research, though.

I'd still go with what Nicolaides says, but your consultant is following the official NICE guidelines.

Artichokes bit confused your consultant said the FMC scan is not approved by NICE and therefore not on the NHS. I had my nuchal at kings which uses the same method as the FMC ,both run by Nicolades (not sure how you spell his name)but Kings is covered by the NHS.I think I would follow FMC's advice and go for the cardiac scan. I know it is a lot of money if the NHS will not do, but maybe worth it.

Port and Lemon, I guess that NICE guidelines woudn't recommend a nuchal scan to diagnose a heart defect...the scan I was sent for was an ultrasound specifically looking at the heart and how it's functioning. Sorry if my post was confusing.

The nuchal result in itself doesn't give a definitive answer on heart defects or even downs syndrome, hence the need for further testing. But when I asked if there were any other reasons for an increased nuchal measurement, they did say it could point to a heart defect and that's why I was referred.

Perhaps I just got lucky and had a sympathetic consultant who was happy to do it to put my mind at rest. As it turned out it was all fine and just a precautionary measure, as I'm sure it will be in Artichoke's case. Just seems it's unfair someone gets the service free and others are told they have to pay.

Artichokes, I have been in your situation -NHS-patient going to get a second opinion from FMC as the nuchal measaurement was big- but with a lot worse odds. Ours was 1:2 for the three most common trisomies (nuchal almost 5mm) and we did the cvs with NHS (all fine). With our measurement NHS had to offer us cardiac scanning and we went twice to Great Ormond Street for a scan (both ok). I'm not quite sure about cvs in your position (did you manage to meet Nicholaides himself? Not that his students are not great, but I would probably completely trust Nicholaides' opinion about the need for cvs in a case where he has scanned the baby himself), but I would definately get a cardiac scan, privately if needed. Our first cardiac scan was at 14 weeks when they can already spot the major heart problems.

if I can share my story - our eldest daughter was born with a congenital heart defect which was detected at the 20 week scan. At that point the local hospital provisionally diagnosed a hypoplastic left heart and we were then referred to a fetal cardiologist at Harris birthright Trust - Kings Hospital London. The fetal cardiologist did a very detailed scan and it turned out that dd1 did have a heart defect but something different to what the local hospital diagnosed. Our appt was very quickly sorted from the local hospital. I can tell from experience that if you tell them about the nuchal result and that you are worried about the heart - they will look closely. With dd2 and 3 they looked closely for it just in case.

I had a chance of either dd2 and dd3 inheriting what dh has ( congenital BUT diagnosed after dd1's birth at age 42!) The local hospital looked very closely at the hearts when we indicated that was a possibility.

If you are worried about having a child with down syndrome or any other conditions that can be indicated with a cvs then by all means have it. If you are not concerned and would not take further action then I would not risk the CVS. I did not have one with dd1 even when we were told given her heart defect that if she was born without ds it would be incredibly rare. ( have since learnt our chance was 1 in 5). She was born with down syndrome also.

She underwent two open heart operations at 8 weeks old - a bit of time recovering - a few hiccups but now at 6 is a healthy bright little girl whose heart is just like a 'normal' one. ( think there is a pic on my profile.)