Would you do CVS if your odds went from 1/75 (NHS) to 1/1423 (FMC)?

[xkat]

So, would you do CVS given the information below, given that it would be at the best fetal medicine facility in the UK? (The NHS actually refers people there ... for all you English folks, your NHS is absolutely fantastic.)

Hello all,

Been reading through the threads here and it is amazing how much you all share, and thank you for that as I would not have known about the more detailed ultrasound scan that can be done when determining 'risk' for chromosonal disorders.

So, the long preamble to my question:

I had my nuchal measurement and bloodtest done by the NHS Tuesday, and the call today telling me that I had a 1/75 risk for Down Syndrome. My nuchal scan was fine, a little on the high side, 2.3mm, and PAPP-A was good, low, but my beta hCG was triple what it should be! I knew it as when I first took the pregnancy test, the line immediately appeared and very very dark. So double the normal amount of beta hCP can indicate chromosonal abnormalities (also I am 40) and I am triple. They said I could go to the Harris Birthright Centre @ King's College for CVS.

After the call this afternoon, I read on here about the Fetal Medicine Centre and called them immediately, since my gestational date was wrong by a week and half (I wasn't 12 weeks at the NHS screening, I was actually 13+4) and they said I should come down right then for a screening or it might be too late to accurately measure.

So I went down, the doc was wonderful, took a long time scanning and measuring various aspects of the baby and me, including checking baby's heart and urine flow (almost wrote my urine flow!), my cervix etc, though for the test, it says only nasal bone present, tricuspid flow, and ductus venosus were the added markers. So, my new 'risk' is 1/1423.

My question is can this really be accurate? I expected maybe a difference in the tens, not in the hundreds! I don't see how it can be so different as beta hCG reading was exactly the same, PAPP-A same and the nuchal scan actually showed even more thickness! Does the nasal bone etc. really have that much weight?

Any insight is welcomed! And as I've already mentioned, thanks for all the helpful wrods posted in these threads.

Love, k

Yes the karyotyping will give the result for mosaicism, if the baby is affected.

Poor you, what a dreadfully long wait!

Fingers and toes crossed for you!

Thank you
I so want the results to be good. Everyday is different. Some days I am positive it will all be ok, then other days I am in tears because I can't see how it can be right.. I am now 17 weeks and with the cysts it is pretty obvious I am pregnant. I have not been able to enjoy this pregnancy since being told about my high risks and doing cvs etc. I can see my colleagues looking at me to ask if I am, but I don't want to talk about it, I just want to know where I stand and then decide from there what I say when questioned. Know it sounds petty, but once I know where I stand then I can be stronger, whereas at the moment I think I will break down if asked. When I called my mw today she said she would let me know as soon as they come in, will definately know by the end of the week. Only thing I am not sure of is if this is just for the 3 they tested me for with the cvs - T21, T18 and T13 or if this will be the full report with the karyotyping you mentioned. Thought the full report takes longer to test?

Hi cagh. What normally seems to happen is that the results for the three trisomies are available around two days after your amnio (that is why I'm so surprised you're still waiting).

The full report with karyotyping takes around 18 days to 2 weeks. So I'm guessing that your mw is referring to these reults being ready at the end of the week? (Which does sound a little quick, but possible).

If I were you I would ring the midwife tomorrow and ask her to fully outline exactly what results you can expect.

The waiting's bad enough, without it not being made fully clear to you what results you are waiting for!

You sound like you are being very strong and brave about it all - good luck!

Hi Olivia
I am hoping tomorrow is the day I find out. I will call them again if they don't call me first. The CVS test I was told I would have to wait 3 working days, but I waited 5 (this was done at another hospital). This test I was told would take 7 days as the testing gets sent off to another lab for testing etc - so I have now waited 8 working days. I don't understand what the hold up is, but I am hoping I get the full result as I don't want to still have to worry if told all ok, but have to wait for the rest of the test. Hopefully I will be writing on here with good news tomorrow

Everything crossed for you!

Here's to great results tomorrow

I would just like to thank oldmum42 for her sensible views and advise. During my last pregnancy i had high risk blood results and had a amnio. Thankfully all was fine. Consequently we paid for a private nuchal scan this time as everyone said how much more accurate this was. Sadly it has also given us a 1/38 risk so have had to take another difficult and very quick decision to have cvs.
I would really advice anyone to go into all of these bloods and tests having discussed the consequences and answers to help prepare you. We went into it this time assuming it would be fine and feel as though i have been hit by a bus again!
It was also reassuring to read about her view points if the results of CVS were also unfavourable.
Can i ask how long you need to rest for? What do you do about picking child no.1 up and looking after him ?

dreamboats, sorry about your news. I had a CVS at the FMC with DD (1:12 risk). I felt fine afterwards and didn't need the paracetamol they gave me afterwards in case of pain. I took it a bit easier for about a week after but had no problem lifting or looking after DS (then 9 months). I went back out running a week later. I got the all clear and DD is now 4 monhs and is lovely!

Hope all goes well for you.

thank you. good to hear so many positive stories at the end of it all. I am still sitting here in shock and disbelieve that it is all happening again.
Thanks

Finally got the call. Test has come back positive for triploidy - full karotyping = 69xxx (girl). Really having a problem digesting it all, feel sick as hell. How can it look so perfect but be so wrong? Don't know what to do. They have suggested I terminate, but we are in denial (maybe) or we are grasping onto the fact all looks normal I am 17 weeks now. Going into hospital tomorrow to discuss it further with the consultant. cvs = triploidy, amino = triploidy, how can i hope the result was wrong twice? I don't want to make this baby suffer - bring it into the world if all it will do is battle to live and possibly be in pain, but then how can I take some pill and possibly end it's life. I don't know what to do. Really sad. Hope all your results are better than mine. I took pregnancy for granted when I had my first two. When I miscarried last year I thought it doesn't get worse than this, but I was so wrong, it can be worse and I bet it could be even worse for some others too...

Cagh - sadly the only way a CVS or amnio would be wrong would be through human error in the testing (so not likey twice) Hope you reach a decision that is comfortable for you all - best wishes.

I'm so sorry to hear this cagh.

Thanks for your support anyway
x

Cagh, I'm so sorry to hear about your results. I hope the discussion with the consultant yesterday gave you the information you need to start to come to a decision that's right for you and your family.

Dreamboats, Sorry to hear you are also going throught a difficult time - I had CVS this pregnancy (high risk due to age, previous mc with T14, and the current fetus had an abnormal heart rate in early preg). I skipped straight to the CVS, did not have Nuchal scan/bloods due to the multiple risk factors.

Don't be too nervous about the test (and remember a risk of 1:38 means 37:38 will be fine), here's what happened at mine.....
The test was fine, not nearly as bad as I expected, a fleeting pain followed by some period type pain while the samples were taken (3 seperate samples taken, at my hospital anyway), the cramps went away within a few mins, I did feel bruised for a few days but just took it really easy, as they advised me to. Try not to look at the needles - they are very long! Results were phoned through to me less than 48hrs later, the full results in about 10days (all was fine). We got to watch the baby on ultrasound for about 20min or so, while the test was done, and that aspect of the test was great.
I'm now 27 weeks.
Along with the results, we were told the sex of the baby (it'll be up to you, if you want to know or not), so we know we are having DS4.

Congrats oldmum, glad to hear all is going well for you
We had a chat with the consultant, to be honest she was very nice but very factual that this is the result and that is it. She was compasionate, but I don't think even if she cried with me I would of felt any better. They had my husbands name in the ward book this weekend should we decide to terminate and need the pill to start things off. We didn't know what to do then and don't know what to do now. We have decided to call her Amy. We have told the kids that they have a little sister, but she is on loan to us for just a little while, but then she will have to go back to the angels. My daughter cried and was so upset, but she seems to have accepted it all now. We were told that there is no chance this baby will make it full term and on very rare occassions will they actually survive birth. If we decide to terminate then they advise us to do it now, as after 21 weeks the baby would require an injection to put her to sleep... We discussed it and both agreed that if we did decide to terminate (which at the moment we don't) then after 21 weeks seems better as it would be less distress to the baby being aborted alive. But we are against this at the moment. If Amy is incompatiable with life then God will take her when they are both ready... I don't know. I don't think we ever will know.

Cagh, Sorry to hear what you are going through this, for what it's worth (my opinion only, of course), I would have opted for termination if we had had a similar result.

A couple of points you may want to consider - your DD Amy may may die at any point in the pregnancy, so a termination will (most likely) just speed things along by a few weeks. I can understand waiting for the natural course of things, but also consider you may find this stressful to deal with as the weeks go on - or maybe for you, this will be easier, only you and your family can decide what is best.

You are about 17 weeks now? I want to reassure you that if you decide to terminate now, your DD will not be able to perceive pain in any concious, thinking way, the structure of the brain is not developed enough (the neurons which transmit impulses from the rest of the body do not connect together until around 26 weeks), making "thoughts" or "perceptions" impossible. At earlier stages it's all instinctive.
I see your point about waiting for an extra few weeks , but again, this is a tough choice on you, to wait another 3 weeks - could you explain to your consultant that you feel strongly about this issue, and ask that an injection be given to your DD, even if this is not the usual - I would hope that, if you requested this, they would show compassion and say yes.

This is such a difficult decision, but whatever you decide will be right for you and your family, I'm sure of it x

Sorry, to clarify, I mean ask the consultant to give an injection given now, at 17/18 weeks rather than delaying until 21 weeks just so that this can be done (if you choose to terminate).

Just want to add on here that the consultant behind FMC is actually the same consultant that heads the Harris Birthright Centre @ Kings College - so you were offered the same expertise on the NHS - just to reasure those who get offered this and can't afford a private scan.