Amniocentesis - would you do it?

[curiousgeorgie]

My nuchal scan results were 1 in 508.

I know that this is considered low risk but its far far higher than with my 2 year old DD and my DH & I have discussed that we would in all likelihood not continue with a pregnancy that showed fetal abnormalities as our DD had a host of problems with missing grosse milestones and still goes to physio and it just wouldn't be fair on either child or us.

I have been offered a further scan at 16 weeks - but what will this look for and how can it be any more conclusive than the blood results and 12 week scan I've already had?

I have looked into amniocentesis at the fetal medicine centre in Harley Street and would be happy to pay for one privately there.

But obviously there is a miscarriage risk and I am so so torn. My DH said we'll do whatever I want to do but I really just need some advice.

I've miscarried several times in the past year while ttc #2 and I just feel very uncertain about everything right now.

My results came back as a risk of 1:71 & we decided to go for an amnio. Was worried about m/c risk but didn't want to not know. Luckily results came back normal & baby now 3 months old.

Am a bit worse for Christmas booze but feel free to PM me if you have any questions

Your risk is low. Risk of miscarriage from amino is 1% (though does vary with different operators). I would have had an amino if risk had been more than 1 in 100 for sure, debatable between 1 in 100 and 1 in 250. Anything over that and the risk of miscarriage wuld have been too high for me to take the risk.
I'd pay for a detailed private scan (much better resolution scanners) and repeat bloods, if you're still less than 14 weeks. But 1 in 500 really is pretty good odds for having a healthy baby.
In the end, you'll have to go with what feels right for you. There isn't a right or wrong. Good luck.

I'm just over 14 weeks.

What else would a scan tell me?

The nuchal fold was thin and it was my bloods that increased my risk.

I'm 30 so my base risk was 1 in 900 I think. Then a good scan... But then the bloods making it 1 in 508 just makes me so so worried.

Personally I would wait and see what your scan at 16 weeks shows then make your amnio decision based on that x

Have a looK at Harmony testing - lots of info on this on the Antenatal Tests/Choices board. It is being trialled at FMC and is non-invasive. Good luck with your pregnancy

I had one at 16 weeks with DS. Our odds were 1 in 260 but I had to know as I would have terminated the pregnancy. Sorry if that offends.

The actual procedure was pretty painless even though I did have some scary cramping afterwards. I got the preliminary results in 3 days.

Good luck with your decision.

It's a personal opinion but I'd never risk an amnio unless the risk of downs was less than 1 in 100 - given that an amnio has a 1% miscarriage rate. I think 1 in 500 is a good low risk result and I wouldn't be tempted by an amnio at all.

What you've got to consider is whether your peace of mind (of knowing your baby is okay before progressing with pregnancy) is worth a fivefold increase in the risk of a miscarriage, given that your baby currently has a statistically low risk of downs - only you can make that decision.

Having said that, being stressed out continually for the remainder of your pregnancy may not do you or your baby any favours at all and if you think you just can't take the risk of downs, then maybe for you taking that extra risk is necessary.

i would note that there are many many things that can affect babies' health and wellbeing which are not necessarily picked up on screening tests, so you never get any guarantees as to whether your baby will be fine, we all have to have a little bit of faith and hope, but I can understand you wanting to rule out a condition that can be detected.

Re: later scans, I think the anomaly scan at 20 weeks may pick up further markers for downs (for example a lot of downs babies have heart problems etc) but I'm not sure what 16 weeks would pick up, you might want to speak to your consultant about that before making a decision.

The result is not bad. Personally I wouldn't take any risk with those kind of odds but ask for another scan and look for other markers. Sounds to me like your odds aren't bad at all though. Happy Christmas.

You have a 0.2% risk of there being a problem. So a 99.8% risk of there not being a problem.

I really wouldn't worry, and your risk of a MC with an amnio is likely higher than the risk of DS.

But if you need more certainty, I'd go for a detailed scan (we went to Harley Street for one) which look at more factors than just nuchal fold and bloods. My bloods are weird in pregnancy which skew my DS risk results when they account for half of the factors looked at. But when taken into account alongside the 8(?) other markers, they have a lot less relevance and my risk went from 1:90 to 1:3000-something when we had this scan (am 30 and my risk with DD 2 years ago was in the thousands, so a big jump).

If the scan shows concerning factors (eg no nasal bone or heart issues), then there would maybe be a stronger argument to have an amnio. As it stands, I think your risk is too low to warrant one.

When I was pregnant with my DD who is now 2 I had my first scan at 13+6 and they said the nuchal fold was slightly larger than normal so they booked me in for a scan at 16 weeks and this scan picked up an echogenic bowel. I was offered blood test and an amniocentisis but I declined and at my 20 week scan they said everything was fine, the echogenic bowel was no longer showing and her heart etc were absolutley fine. I am now 4 weeks pregnant with my 2nd and I hope not to have to go through all this worry again!

Have you had any bleeding in your pregnancy? My consultant told me the blood results would be skewed due to bleeding in my first pregnancy. Just a thought.

Yes actually, I had a big bleed about 4 weeks ago while I was on holiday...

I didn't know that was taken into account.

A colleague had a one in five risk of her baby having Down's. She chose not to have an amnio. Baby was fine.

You need them to discuss with you how they've arrived at that figure. If you are older than 30 then that hikes up the risk, for example.

It isn't taken into account, but the bleeding can skew the results. I don't know much about it, just can remember the consultant saying don't be surprised if you come back high risk. Have just googled it, and there is definitely something in it. I would definitely look into this more if I were you, before having an amnio, particularly as your scan and your age would give you a lower risk. Hope it all works out well for you.

This is such a personal decision and one only you can make.
With DS I only had bloods done (nt scan had just been stopped in my area and no one had thought to change leaflets or to let me know- but that's another story). Age 30 and risk came back 1 in 516. Base for my age was 800 or 900 so I started stressing. My statistician mates were thinking I was mad to be stressing with that risk but I couldn't help it. DH managed to get my head to a place where I could ' have a little faith' as previous poster said. Our DS was fit and totally healthy and is now a bouncing nearly 2 yr old.
This time around I paid to have nt scan private and combined bloods and risk has come back 1 in 1862. This I decided was great for all of a day then I started wondering why so many other people get 1 in 25000 or something!
This is a long way of me saying that if you really need to know for definite the only way you'll find out is the amnio ( or harmony test). For me I decided against and to go down the having a little faith route again. Hopefully that will turn out well this time and If not then we'll have to deal with it as a family however difficult that might be at the time.
I understand the confusion- I personally usually over analyse everything and need definite answers so the whole having faith thing has been difficult to get me head around.
I hope that you manage to come to a decision you feel happy with.

I've just been reading about the harmony test which sounds amazing it I think it's too late for me to have it...

I did for DD1 because the risk of Downs and the risk of MC were around 1%.

I certainly wouldn't for 1 in 500, that's 0.002% or 2/1000, mc rate far outstrips the risk of Downs.

I bled with both dds and I was told not even to bother with blood tests as bleeding in pregnancy alters results so I had no tests with either

I resolved to have amnio last time regardless of the risk numbers, I wanted certainty. And yes I would have terminated (I know that as well as I can know anything). I had mine at FMC because if I felt if I was going to be so selfish I would pay to minimise the risk.

But your situation is so different I struggle to think what I'd do. You've been devastated by pregnancy loss before, you know how hard that would be for you, and to be honest, I'm not sure that your reasons for thinking "it wouldn't be fair" make sense to me. Is it because you think you simply don't have enough to give? But what if the child had other problems that came post-birth, you'd have to cope then, no?

Sorry to be harshly blunt, I think in your situation I would not have the amnio.

Are you sure you are too late for Harmony? Worth checking with fmc what the timing is.

We were told a 1 in 1023 chance of Downs, but more importantly a 1 in 4 chance of Edwards or Patau which we were told are both deemed incompatible with life. The worst phrase you can hear after ttc for over 6 years.
We had the amnio and all was clear. It was worth it to know what we really were dealing with - a giant exomphalos but no other long term complications, thank god!
Our 4 year old only child is sleeping peacefully in the next room dreaming of Mike the Knight right now!

It is not too late for you to have Harmony. The Fetal Medicine Centre will do it anytime, call them in the morning.

I have a thread in test and choices all about Harmony. My combined test gave me a 1:10 chance of Downs. Harmony gave me 1:10000.

Hi georgie, I'm really pleased to see that you're 14 weeks pregnant now. We're you treated by Mr Shehata in the end?

I decided to have my Nuchal at FMC, with a view to having a CVS if necessary. I have terminated two pregnancies in the past because of Downs so I really wanted to know definitively that the baby was OK. I'd had 4 miscarriages as well so was wary of taking big risks from that point of view as well. My risk came up as 1:600, and I was still in a quandary. They are great odds but I felt that if I just happened to be that unlucky one against the 600 chance of all being fine it would've made a mockery of my previous decisions to terminate two of my pregnancies. The miscarriage risk at FMC is a lot lower than in some hospitals. The risk I was quoted was 1:500 versus the 1:100 risk I'd been told at UCH a few years back.

I had a consultation with Prof Nicolaides after my scan and asked him what he thought. He said that if I'd had no history of problems before he would've probably advised against having invasive testing as the odds were pretty good but that because of my history, and need for a definitive answer he put it to me like this -

The risks of having a baby with Downs was more or less equal to the risk of miscarriage from a CVS. Would I rather lose a baby or have a baby with Downs? I had already answered that question twice 4 and 5 years ago by choosing to terminate, so I went ahead and had the CVS.

All was fine, my mind is completely at ease, with regards to Downs as well as various other abnormalities and I am now 25 weeks pregnant. Also, don't quote me on this but I think that the risk is even less with an amino than CVS.

Best of luck georgie.

Seeing above that you've had a big bleed, I'd be a lot less concerned about the bloods raising your risk. My hospital even ask this now when taking the bloods as it is so well known to skew results. Maybe talk to the consultant about what the result really means in this context.
A private detailed scan will look for other markers but the only way to get a definite answer is amnio. Your risk is low, I wouldn't go for any further testing aside from a more detailed scan personally.
Good luck and sorry you're in this stressful position when you should get to enjoy your pregnancy.

I had an amnio, despite a 1:357 risk of Down's. My unit has a 1:150 miscarriage after amnio risk. I agonised about it, as I've had 2 previous m/c & this is my last shot at pregnancy. My Papp-a was low from the Down's screening bloods, which can be a marker for chromosomal abnormalities. I talked things through with the foetal medicine midwives first, is that an option for you?

I've also got a complex obstetric history, including a molar pregnancy (1:150) HELLP syndrome (1:500). So I've been the person who has been that unfortunate statistic, more than once.

But I felt very strongly that I couldn't cope with a child with chromosomal abnormalities. Nor did I want to continue a high-risk pregnancy, putting my health at risk (had previous early PE) for a non-viable pregnancy.

The actual procedure was fine - the agonising about making the decision was definitely the worst of it.

And I got the initial results within 24 hours, the final ones 2 weeks later, giving me the all clear.

Good luck with whatever you decide