Nuchal scan results not good, worrying times

[ClareZee]

Hi,

Well, we've been thrown onto a bit of a rollercoaster. We had our 12 week scan yesterday and had expected it all to be a bit of a formality but things took an unexpected turn. We had declined the combined test but the sonographer saw the level of nuchal fluid was significantly higher than it should be and had to let us know - it was 6.7 so not even borderline high. The normal range is up to 3.5. She was very kind to us and we have no issue with being told given the measurement. We were offered the blood test straight away and decided we had to have this to give us as much info as possible.

We were also offered a pretty much instant appointment with a consultant at our area's main maternity hospital (scan was at a smaller one). The consultant agreed with the nuchal measurement and spent time explaining everything to us. Basically, it could still be nothing, could be a chromosome or genetic problem (such as Downs), could indictate a heart problem or other systemic issue. She did say she has one lady who is now 20 weeks pregnant and had a nuchal reading of more than 5 for which they have so far found no reason (she had CVS and has had heart scans and all look normal) so we are still optimistic that things could be ok, although obviously there have been a lot of tears over the last 24 hours and both of us barely slept last night. On the positive side, she could see and measure the nasal bone - with Downs Syndrome this would be absent in 3 out of 4 babies.

Blood tests were sent through quickly and back before lunch today. These were less worrying than we'd feared. By blood I am low risk for the two more serious chromosome issues (18 and 13) where the prospects are pretty dire. On the Downs Syndrome front the blood was a bit raised on HCG (2.19) which can be a marker but on the second measurement (PPAP-A) we were actually slightly higher whereas you would expect it to be lower for Downs. Sorry if this is all a bit scientific but still trying to make sense of it all.

Anyway, overall we have now been given a 1 in 6 chance of Downs Syndrome, based mainly on the nuchal - I was told my bloods are "not that bad". I'm 31 years old.

Next step, we have an appointment at St George's Fetal Medicine Unit in London first thing on Monday. We'll see another consultant and have another scan and after that, unless anything changes dramatically, we're looking at CVS. If you'd asked me 48 hours ago about having this procedure I would have said almost certainly not but now with so many question marks hanging over us we're both starting to feel that we just need more information. It's been suggested that St George's has a better than the national average rate in terms of miscarriage - 0.7% - which is a bit reassuring, however, it's not a decision we're taking lightly. This is the hardest thing either of us has ever been through so far in our lives. This is our first baby and very planned and wanted.

If the CVS finds nothing, we will still need to have a very detailed heart scan at 16 weeks as CVS can only rule out some things but we kind of feel that we have to start ruling things out now so both we and the doctors can plan ahead.

Trying to stay positive and hold onto the fact that it could still be nothing major. Plan to rest up this weekend to try and feel as strong as I can for Monday.

Please keep everything crossed for us.

X

I am so sorry how worrying for you I understand how difficult this is: just two weeks ago I was posting on here after receiveing the terrifying news that my baby had a NT of 3.4 at 11 weeks.

I too had the CVS at St. Georges where I saw an excellent professor in fetal medicine and later thankfully received the all clear, in terms of the three trisomys for which they test. And I think you are right that their mc rate is much lower than the usually quoted 2%.

Obviously a measurement as high as yours is very worrying although there is at least one lady on here who (I think) had a similarly high reading and so far her pregnancy is going well.

Best wishes and good luck.

What a worrying time for you.
These scans have not been around that long so they still don't know what is "normal" and what is ok. Even with the 20 week scan as the machines get better they are picking up things they didn't before and they just don't know what can be normal. We are all unique so different parts of our body are different sizes.

This is going to be hard but before you go on Monday you need to decide what you would do if they said there is something wrong with your baby. If nothing then is it really worth the risk of the test. What ever you decide it is not going to be easy I suggest you both get some help with coping with this.

Thanks both,

At the moment we haven't 100% decided on CVS. We'll see what the experts at St George's say first and then decide, although at the moment we're likely to go for it as the uncertainty is just too much. My blood results are low risk for trisomy 18 and 13 - it's the Down's risk that is high.

My opinions have changed so much over the last few days - when we were blissfully unaware of any potential problem we'd said we wouldn't have CVS or amino. Now we both feel that either way we'd need to know so we could be properly prepared.

X

There is nothing wrong with feeling like you need to be prepared - please don't feel that you have to justify your decision to anyone.

ARC link are very helpful and can talk you through all your options.

The major London hospitals are among the safest places to have invasive tests carried out as the consultants are very experienced and do the procedures frequently.

CVS will only give diagnoses on the conditions they look for, so you may want to check what will be covered for you. Also, a chromosomal diagnosis will not necessarily tell you about the actual manifestation, so detailed scans are needed.

It is worth getting all this done: I know it's he'll for you at the moment; but remember that some conditions can be successfully treated in utero, or with the right treatment post-natally.

I feel reassured that we've been sent to London as so many people have said the consultants here are so experienced. I will definately check what CVS will cover (keeping list of questions!) but realise it's only part of the picture. We've been offered a detailed cardiac scan for 16 weeks too and already placed in the care of a local consultant. As far as I can tell, the NHS is doing as much as possible for us at the moment.

x

Hi ClareZee,
I am so sorry to read your story and hear what you're going through, but also thank you so much for posting it. I have spent the last 24 hours scouring the internet for information, as I seem to have landed in a very similar situation to you and at the same time.

I also had NT scan on Fri and combined with bloods, I have been given a 1:3 chance of the baby having Downs. So shocking, terrifying and confusing all at the same time.

I too have an appointment at St George's on Monday for CVS (maybe I'll see you there),so the stat you had on miscarriage rate at St George's being lower than national average was very reassuring - thank you so so much for sharing that!

We really weren't told much at all at the time and were too shocked to ask questions. You seem to know a lot more, and although it's heartbreaking to read that others are going through the same thing, it's also reassuring.

Stay positive ClareZee. You have a 5:6 chance of having a healthy babe, that's the way I think we have to look at this. It's all about taking one step at a time and dealing with the outcome when it comes.

Fingers and toes crossed all goes well for both of us on Monday.
XXXX

Hi ClareZee so sorry to hear that you are going through this. We are also in a similar situation to you at the moment, only a little further along in the process as we have already had a heart scan ruling out any major abnormalities.

Our measurement was 5mm and with my bloods our risk was reduced from what would have been 1:6 to 1:80. I am still very worried and frightened, so I have an idea how it feels. It sounds like you are in good hands and getting good advice from the medical staff around you. We decided against the CVS as in our area the risk of miscarriage after is 1.3% and decided to wait for an amnio for which the risk is 0.7%. We have ours booked in for Monday too, so it looks like you, me and Akkis will all be having an anxious wait for results next week.

I'll be thinking of you both on Monday and through the week. Try to stay positive. I am just hanging on to the idea that at least I will know then, and can just deal with the outcome. It's horrible though. Pregnancy is supposed to be a happy and exciting time, but I am finding it stressful and sad. These scans are not diagnostic- it is just figures. The odds are in your favour that all will still be well.
Sending lots of positive vibes your way.

Hi Akkis and Jeffily,

Thank you for your replies - although this is a horrible time for all of us it is a real comfort to feel that we are not so alone. I'll also be thinking of you both on Monday.

I'm finding today really difficult and have been very tearful as tomorrow gets closer. I think up until this morning I'd been doing better at keeping myself busy and being practical about it all but now it's hard to think about anything else.

I'm not sure whether to be reassured by my bloods or not really. Both readings were a bit higher than they should be but not hugely - I've read that the PAP-A would generally be low for the chromosome anomolies. They said that my overall risk took in bloods, age and nuchal but that my bloods were "not too bad". I did feel reassured that they haven't flagged me as high risk for trisomy 13 or 18 but I don't want to think too much of it until we know more just in case.

It's going to be a long day.

Love and best wishes to you all.

XXXX

Hi ClareZee,
It definitely helps reading and talking to people in the same situation. Good luck tomorrow Jeffily!

Oh ClareZee, sorry to hear you've had a hard day today. I hope you've managed to get through it ok. I've been keeping really busy, but now with my toddler in bed and dinner on the table it's all coming back to me.

My tactic is to stay practical now. Tomorrow is just the test, I believe it's over in a few minutes and doesn't really hurt, so fingers crossed all goes well.

I believe they have a good chat with you first so you can ask them all those questions about your results and what they mean. I realise now that we got no information at all really, just that I have 1:3 risk, so I have loads of questions for them. Think my bloods must have been really bad because NT measurement was 3.1mm which I don't think is way over, but I'm 35 so that changes things too.

I think what you're doing is right, don't think too much about it until you know the result. Worrying too much about things we don't know what are yet will wear us out. Everything might be fine!

Will be think of you lots tomorrow. Good luck and let us know how it goes. I hope you get some sleep tonight.

Big hugs xxx

cvs/amnio can only test for the "usual" chromosome disorders like downs. they can't pick up microdeletions etc.

but one step at a time....

depending on other findings eg scans you could ask if they prepared to do more detailed chromosome analysis.

given such a high reading you need to be asking lots of questions, eg "if amnio/cvs show it isn't downs, what is the risk of it being a condition not diagnosable on standard chromosome analysis? what other tests could be done?"

get a 4 d scan etc later on so you can get more information .

Will be thinking of you today xx

Clare, best of luck for today. I know how hard this is.

I was in a similar situation, although for me it was the bloods that tipped me over into 1/5 risk for Downs. I had a CVS the day I found out my risk factor. I had a consultant with close to 20 years experience doing my test, so I felt more confident re: the miscarriage risk. I was at Chelsea, but expect that Georges is similar in respect that it's a teaching hospital with the experts in the field.

We were so relieved when the results came back neg for Downs, 18 and 13. Although the results took about 4 days (plus the weekend, so felt like an age), I am glad that we did the testing. I am the kind of person who needs all the available information so we would have gone for any and all diagnostic testing offered.

One thing I would suggest is that if you can, request (and possibly pay for) the full chromosomal profile. I didn't and had a bit of a wobble after reading on MN about someone who was clear for Downs, 18 and 13 but found another anomaly thru the full profile.

After the results I was told I had "weird blood chemistry". I did ask what else the bloods could indicate. From some Googling, I had already found levels of certain hormones can indicate growth issues. The consultant confirmed that is one reason they do an earlier 2nd scan. We had a detailed scan at 19 weeks and everything was found to be average and normal. I'll take it! I'm now 29 weeks and no further scans or testing will be ordered.

As others have said, there are other anomalies that cannot be found thru CVS, so we all have a degree of risk for other complications. But do what you need to do to feel reassured that you have the necessary information and tools at hand. And take heart in 85%.

Regarding JFly's comments on paying for the full profile (karyotype). If the nuchal measurement is over 3 before 12 weeks then you should have the karyotype done automatically. It's not done on the nhs in some regions when only the bloods give a raised risk.

Ecoli - St Georges only do the full profile if the NT is over 3.5.

Best wishes to everyone today.

My lovely DSis and DBil have just gone through this. Nuchal came in at over 7mm and combined with blood results gave her a 1:34 chance of abnormality.

They decided to have the CVS done and all came back negative for the usual suspects - extra scans haven't shown anything untoward either yet ?

Just had a 20 weeks scan and Nuchal is now less than half what it was and the heart is looking good etc etc - there doesn't appear to be an explanation for the high nuchal measurement yet ? Consulant has indicated that it might just be one of those things and they'll never find a reason for the high measurements ? We're keeping our fingers crossed but, so far, all's looking really good and I can't wait to meet my nephew in February !!

Hi everyone.

Thanks for all your messages. We thought we'd give a quick update. We saw a consultant first thing this morning at St Georges in London. He did another scan and agreed with the previous two opinions - that the nuchal is significantly higher than normal. He couldn't see anything else that was untoward but again felt the nuchal by itself was enough reason to be concerned.

He said my placenta was easily accessible so after gathering our thoughts we decided to go ahead with the CVS. I didn't watch the proceedure itself but it didn't feel as bad as I thought it could. A bit like an injection. Some of my blood tests have actually been more painful.

Anyway - spent rest of the day reading and relaxing. Feels a bit tender but otherwise ok. Now just waiting. Hope the others who had tests today are ok. Take it easy and rest up. XXXX

Hi ClareZee,
Good to hear all went well yesterday. We did the same and it wasn't too bad, although I went quite faint and queasy afterwards! But that soon passed.
Take it easy now and fingers crossed for us all!
All the best xx

Hi Akkis and Clare

Hope you are both feeling ok today. We also had our amnio yesterday, was fine and no where near as painful as I was afraid. I did get myself into a right old state before hand though.

Am finding the waiting rather hard today. Trying to distract myself without much success. Just wanted to say I'm thinking of you both today and tomorrow,and keeping everything crossed for good results.

Hi Jeffily,

I'm also finding today very hard. Yesterday went quite quick and I think the relief to have got the proceedure out of the way helped plus I was shattered from the early start and slept for a few hours in the afternoon. Today is dragging. Obviously worried about the results but also worried about having had the proceedure too although apart from feeling a little tender it seems ok at the moment.

Really, really hope the results are good for all of us. I know it won't answer all the questions but some good news for now would be wonderful and then the doctors could look at other things. I'm trying to think of all the stories I've read like ours where things have been ok and the high readings have remained a mystery after healthy babies arrived.

Thinking of you.

X

For what it's worth - and any decision is yours alone to make - I've had an amnio and it doesn't hurt at all.

Wishing you all the best

Hi ClareZee and Akkis

Just checking in to say I am thinking of you both on this difficult day. I've been awake since 6, expecting the phone to ring even though I know that it will be later today if we do get the call today. Hope you are both managing to stay busy.
x

Hi, at 29 I had a 1:9 based on nuchal alone. Following the CVS I was still worried as the nuchal can mean heart problems. The nuchal came back fine and baby born without any problems. The CVS can tell you what sex you're having, btw.

Good Luck, I can remember how awfully worrying it it.
xxx

Hi girls,
Feeling slightly sick today with the thought that maybe just maybe the call might come through today. Was so relieved to have the procedure over with and feeling fine so far, was fine yesterday even, but today is dragging and it's only 9.25am!! Can think of nothing else, need to keep busy...

Thinking of you both and hoping and praying for some good news for all of us.
xx