CVS for Downs etc negative but can't test for anything else...should I have amnio?

[MrsLovely]

Hi everyone

I've been having a bit of a time of it recently. My 12 week scan showed a nuchal fold measurement of 5.3, which is very high. Although my bloods came back not massively too high/low, I was told I had a 1 in 2 chance of the baby having Downs.

This was a bit of a shock, despite my age (42!) I went into the scan without really thinking through what the results could be.

Anyway, I went for a CVS last week and got the initial results back 3 days later, negative for Downs, Edwards and patau. We were so relieved, but I had a phone call today to say the sample they took hasn't grown and they can't test for anything esle.

So... do i put myself through an amnio? (the cvs really freaked me out!) Can I trust the initial results of the CVS?

Does a high nuchal fold indicate any other problems apart from the 3 reported on the CVS? And heart problems?

I just want to relax and enjoy this pregnancy and be able to share it with other people!!

This is such a personal decision.
Fwiw, I had amnio with much less scarey odds than you. But I also think you are looking for more certainty than is possible.
You've had a good CVS result and I'd go with that and put any other worries (from the nuchal fold test) aside. I would take the view that I'm not in control of this process or outcome, I've done what I can to tilt the odds now let it go.

Good luck, whatever you decide.

Hello Mrs Lovely.

First of all, congratulations on your initial result. It is some hurdle you've sailed over.

The overwhelming majority of women here have clear karyotypes reported after the PCR result. However, there are a few who have had unexpected chromosomal anomalies turn up after an early 'all clear'.

I suppose it all depends on how much you need a definitive result. (No judgements there, I certainly would and didn't rest in my last pregnancy until I had the full karyotype print out in my hand.)Perhaps one option would be to have an early fetal echocardiogram at a specialist centre to assess the heart and thereafter take advice from your obs on the amnio?

Sorry not to have been much help. I've been there and know how hard it is. Keep talking to those who can advise and you'll make the right choice for you.

Thank you both for your replies.

I think my gut feeling is I don't want any more invasive testing...and I don't want to face that ten day wait for the results again, it's been pretty horrible so far!

But knowing me I'll still worry throughout....

The specialist scan is a good idea, I think I'll look into that tomorrow. The sad thing is, I just want someone to tell me all is OK and I know it just doesn't work like that!

Thank you again x

These people are brilliant

www.fetalmedicine.com/fmc/ultrasound/cardiac-scan/

Says 20 weeks but I do know someone who had it 2 weeks earlier. Having ruled out T21, T18 and T13, a cardiac scan could help to rule out heart problems.

Of course, doesn't have to be done in London. Most fetal medicine units around the uk will offer similar services.

I do hope it all goes smoothly for you, but for now - enjoy that result!

Shangrila gives good advice & congratulations on your result, those are some odds to have beaten.

I'll just add that I also had a 1:2 result (although sadly my CVS did confirm Downs) but I had a fetal cardiac scan immediately after my nuchal scan at 12+4 at UCH so it might be worth pressing for an early referral if you don't want any more invasive testing. They were able to look into the heart and check for structural defects and blood flow through the heart at that stage.

A high nuchal measurement is also an indicator for Turner syndrome. Did they test for this too?

Seconded on the Fetal Medicine Centre. Just off there in a few hours myself for similar reasons to you, although I have not had any invasive testing at all so far, just a bad NT screening result. The fold was fine but my bloods were, in the words of the doctor, "terrible" - 1 in 8 giving me 1 in 34 overall. I had a detailed NT scan there last month and they were wonderful.

For what it's worth the cardiologist is only there on Thursdays (or so they told me) and is not in tomorrow, but will be on the 23rd. I actually needed to see the cardiologist too (on top of my screen positive I detected a seriously irregular heartbeat on Monday with my doppler - it's now cleared up but the worry remains) so if this detailed scan shows a problem I'm hoping I can get a very quick referral to see a cardiologist at Kings before Christmas instead.

If you have the money to spare(!) and change your mind about invasive testing, the professor himself does amnios on Wednesday afternoons and I would guess he has one of the lowest rates of loss ever given he lasers placentas for breakfast or what have you

Hang in there. Like you I just want somebody to tell me if it's going to be okay or not but that person does not exist :(

We had a 1 in 2 probability too and had the cvs at kings- after the initial results came back clear, the consultants really didn't seem too worried about the rest of the results. Like you though, I just wanted someone to tell me it was ok and was still stressing till I got that piece of paper in my hand.

I second what everyone else has said re cardiac scan - we had one prior to the cvs at 14 weeks, a full one at 17 weeks after the initial cvs results and have another one booked for the 23rd at kings. It might also be worth ringing up the fmc and seeing if you can speak to prof nicolaides to see what his opinion would be of going ahead with the amnio and the related probabilities.

They didn't test for Turners as this would have come with the second set of results from the CVS which failed to grow in the lab.

Have just spoken to the hospital and am now waiting for a geneticist to ring me back to discuss in more depth what the results we've had so far really mean.

I have told them I definitely want to have the in depth cardio scan but they only offer it at 20 weeks, although that's not a huge wait now. Unfortunately I live too far from an fmc to be able to visit them (especially with young children and so near to Christmas!)

Thank you all for such good advice, will let you know what the geneticist says!

I had a 1 in 2 at my nuchal scan - fold was 7. Amnio etc came back clear but we had a cardio scan at St Thomases at 14 and 17 weeks and the baby had a fatal heart defect - this can also cause high nuchal folds. At the 14 weeks scan the cons wasn't 100% sure that it was fatal but by 17 weeks he was. Sorry - I know that's not going to ease your mind in any way but just to say do make sure you get the cardio scan too. ANd yes, enjoy the clear amnio test results too. I did.

I think that the chance of something turning up in the full karyotype in terms of a chromosome problem are very very small, at least that is what I was told by the ARC. At my hospital, the full karyotype isn't even done as a matter of course, you have to pay £190 to have it done. That said, I did pay.

I think the advice you have re the heart scan is probably the best route for you to take, in my opinion, but I do understand the strength of that desire to be told that EVERYTHING is ok (while acknowledging that there are plenty of things that can be wrong with a baby that we can't test for during pregnancy).

Claire x

Well I spoke to the doctor yesterday. She has said that basically the problems that are associated with age have been ruled out, so now we are mainly looking at problems that anyone would face, regardless of age.

She has recommended that rather than the amnio we have a scan at 16 weeks (next week) and then a full cardio scan at 20 weeks. I feel happy with this.

She also said that the high nuchal result is an indicator of Turners, but that babies who have a severe form of this usually miscarry before now.

So fingers crossed for the next couple of weeks but feeling a lot happier in myself and a more positive about things!

That's all great to hear!! :)