Amnio questions

[spaceal]

Hi,

We are facing a 1 in 19 possibility of Downs, following low PAPP-A and high HCG results. Nuchal was absolutely fine (1.6mm). The hospital failed to tell us this so we're delayed in making decisions about further testing and I'm now 21 weeks.

Part of the reason we haven't rushed into anything is that both my partner and I are sure we would continue with the pregnancy.

We had a detailed scan in Fetal Medicine at 17+4 and there were no signs of any soft markers for Downs. The consultant said this was 'very reassuring' and tentatively suggested it would stretch our odds to 1 in 38. She also suggested that a later amnio carries a smaller risk of miscarriage, about 1 in 200 or 300.

We have another scan on Monday (at 21+4) and still have the option to have the amnio. My partner and I are going round and round in circles trying to decide whether to do it. Ideally we'd both know as the uncertainty is having an impact on our enjoyment of/feelings about the pregnancy, and probably also putting a bit of a strain on our relationship, but we're both terrified of miscarrying and would be absolutely devastated if that happened.

But we can't give up on the idea of finding out, of getting through the amnio fine, and of being in a much more stable place in a week or so's time (whether or not our little girl has Downs).

What I'd really like to hear about is how people coped with the amnio and survived the 'risk period' afterwards, worrying that they might miscarry or something.

And even ways in which people put the miscarriage risk into perspective - we know it's a really small risk, but a small risk of a huge loss.

Any help would be much appreciated.

Thanks xx

i really feel for you- uncertainty is very difficult. you need to weigh up what is worse- a few months more of not knowing anything definite, or a possible complication/miscarriage- hard as it will be i think i'd Probably not have the amnio. but would totally see/understand why you would. the thing is, nothing is ever certain, even with no indications of problems there could be other complications during the birth... so knowing for definite re. the downs question might not give you the relief you are seeking...good luck whatever you decide.

Hi spaceal sorry to hear that you find yourself in this difficult situation.

We had a risk of 1:80 of Down's following a high NT but good bloods. We decided to go ahead with an amnio as we were pretty sure that we would not continue with the pregnancy if the baby had turned out to have the trisomy.
For us it was down to the figures- we had a 1.3% chance of Down's and the (quoted) amnio risk was 0.7%. FWIW I got myself into a right state about the amnio but it was totally fine. No worse than a blood test, over in seconds and the consultant showed us the baby, heart beating away all the way through and afterwards. I didn't actually watch, but DH did. I did feel shattered afterwards and went to bed for the afternoon, but I think that was more emotional than physical. Be prepared for that if you decide to go for it though.

I was lucky and had just very mild cramping afterwards and no other symptoms. Within days I had forgotten about the mc risk and was totally back to normal.

I believe that the quote mc risk of an amnio is 0.7%, but it helped me to remember that there is still a risk of mc for women who have passed the 12 wk level of 3%. This is not something that we often think about or talk about, but late mc can happen and could have nothing to do with any procedures. I also found this article www.ncbi.nlm.nih.gov/pubmed/17547917 very reassuring, although it is american.

I hope that you can find a way through this difficult time that feels right to you and your DH. It's horrible and I wish no one had to be there.

Thanks stinkypants for your thoughts, and thanks jeffily for sharing some of your experiences with me (I'm a lurker on the March club so had read a abit about what you've been through) - that article looks really helpful.

It is a difficult time, but it does help to hear others' experiences - and to get messages of support.

Thanks.

Hi spaceal

it's a horrible decision to have to make. I gad the NT and came back with an overall risk of 1:160. The scan was fine, iirc 1.3mm but rhe bloods alone were 1:24. I
39 btw. I agonised fir weeks terrified I'd mc risk because it had taken years to get pg again. In the end tho because I already have a disabled child I decided we had to know for his sake. Unlike you termination would have been a possibility for that reason, because of what it would gave taken away from ds in terms of time etc. I felt numb towards tge baby during this tone and didn't want to spend the whole pgnancy feeling that way. The actual procedure at 17wks was fine, v good doctor. I totally rested for a number of days and took time off work. The result was fine and wee dd is lying in front of me as I type. I can't really advise because if you are going to keep rhe baby whatever part of me thinks why take the amnio risk but I do understand the wanting to know aspect. By the way in other countries like France amnios are routine for women of a certain age my French friend says, and she had two with her kids even tho her risk was fine for that reason (39 and 41 having kids).

I really wish you luck if you hve it and with the decision. It's not a position I'd wish anyone in.

Terrified OF THE mc risk, that should be.

Thanks floozie. Still agonizing.

Anyone else?

It is very difficult and it can only be your decision.

We were given a very high risk of 1 in 5 at the 12 weeks scan and decided against invasive testing but I found myself swinging between needing to know and not wanting to risk an amnio. Unfortunately 2 people I know, had a family member who miscarried after an amnio, which put me off ratehr BUT those babies may have miscarried anyway.

Anyway - I just got myself in to a place where I assumed baby did have Down's and that if it didn't then that would be a 'nice surprise'.

Anyway as time went on i got very stressed that they would find something incompatible with life, which i didn't feel that I could cope with. i found myself just hoping and praying that wasn't the case and 'please can i just have my little baby with Down's.

Then at the dreaded 20 week scan they found a very simple cardiac defect plus a couple of soft markers, which just made it almost certain that baby has Down's. We still haven't gone for the amnio.

Now - from my side I decided after the 12 week scan baby did have Down's but DH was full of hope and trusting the odds that baby didn't have Down's. As we've got more info, DH is now in the same place as me and is so pleased that he's gone through the various thought processes that he has before the birth rather than after. He feels that his thoughts have been less than admirable and he's so glad he hasn't had an actual baby in front of him to feel negative about.

Thanks for your message, Remember, it seems like you've been going through an awful lot of the same stuff. My thoughts are with you and your DH.

We think we've decided not to have the amnio and to spend some time over the next few months (I'm 21+4 today) thinking about what having a baby with Downs might mean, whilst also spending a lot of time getting excited about having a baby, with or without Downs. Like you, we'd like to process some of our feelings before she's born, but know that as we approach the due date it might be difficult.

We've got our fingers crossed that today's scan will be as reassuring as the one 4 weeks ago, but know that that doesn't mean our LO doesn't have Downs.

Thanks for sharing your experience.

I hope your scan went well today. Was it at the Fetal Medicine Centre again?

Coincidentally I was there today for an 11-13 week scan with an almost identical story to you - low PAPP-A, high bHCG, 1.6mm NT - small world! My results are currently 1 in 34 for T21 following an absolutely perfect scan there - no soft markers. Like you, we won't terminate for T21 and are declining the CVS. We're going to see how things look at subsequent scans (obviously the low PAPP-A is a consideration too for its own reasons) but I can see myself declining the amnio for the same reasons as you at the later stages.

It was suggested I could have one at 32 weeks when the baby could be delivered without too much of a risk if something went wrong which I am very tempted by. Like you I need to know too.

Hope everything went really well.

How did you scan go yesterday?

It's so lovely to read both of your posts - I've been feeling that we are rather in the minority for not terminating for T21 and although I don't criticise people who do at all, I've been feeling rather lonely through it all and it just hit me how lovely it is to see that other people also make the same decisions and that we are infact not alone at all.

All the very best to both of you and I look forward to hearing how you are getting on.

Hi sparklies and remember

Yesterday's scan was great - we have a great consultant (in Newcastle) who is just the right combination of evidently very skilled and very caring. Everything still looks absolutely perfect, even down to the joints on her little fingers. It's amazing how much detail they can check! All the usual and some additional soft markers are completely clear. Her heart looks perfect (though small problems might not show up). So all in all it was very reassuring.

The consultant reiterated that she thought this would (at least) stretch our odds to 1 in 40ish and basically told us to prepare for having a non-Downs child, but she did also give us some more Downs literature and is going to set up an appointment with a neo-natal doctor so we can talk through what we might need to think about/expect if she does have Downs.

Our LO is growing right on target so there doesn't seem to be any concern at the moment about restricted growth, which might be an issue with low PAPP-A. We're booked in for another scan in 4 weeks so we'll hopefully get more reassurance along the way.

We talked about the possibility of an amnio between 28 and 32 weeks and we're going to keep this in mind as a back up, just in case we find the uncertainty unbearable - but at the moment I'm feeling very positive, both that it looks like our LO is doing well, but also that it'll be OK if she has Downs, and looking forward to the rest of the pregnancy!

Thanks so much for your messages - and all the best to both of you.

I meant to ask, Remember, what stage you're at now? Have you had more scans? What does the heart defect they found mean for your LO?

Hi remember and speceal,

Spaceal - So glad to hear your scan looked great yesterday. It's lovely you're getting support about DS as well.. hopefully we will get that later on too. Even better to hear that the PAPP-A isn't an issue yet. Very glad to hear you are feeling positive.

Remember - Yes, I know what you mean. People have looked at me like I have two heads when I say we won't terminate - even the doctor yesterday did. I don't criticise anyone who does but like you, it just isn't for me either. I don't know any families with DS in real life but I have come across enough of them online to know it's not as bad as people often make out. I'm sorry to hear about the heart defect. I don't want to give you false hope, but somebody told me yesterday that their baby had a ridiculously high screen positive (she didn't say what), and they found 3 soft markers including a heart defect but he's absolutely normal so it can happen.

As for me - my PAPP-A on the NHS was 0.2, and the FMC had it at a slightly better 0.29. My bHCG was 1.9 NHS, 1.77 FMC. I always have high HCG in early pregnancy though - always - so I do wonder if that's all it is. I asked the doctor at the FMC what my risk would be if my HCG was normal and it was 1 in 1645!

As it stands, it is 1 in 34. Not as bad as either of you, but enough to worry.

Unfortunately I'm double high risk - I'm actually undergoing major surgery tomorrow to have a transabdominal cerclage (TAC) fitted as I have incompetent cervix. I had a rescue cervix at 18w3d with DD2 and it tore through at 34 weeks leaving my cervix a mangled mess. A TAC means c-section deliveries only, so this baby will be locked in tomorrow!

Very much wishing you both the very best - will keep an eye open here for how things progress!

Hi Spaceal - what a brillaint scan - you must be really relieved with how things are going so far.

I'm currently 26 weeks and have another scan booked in at 30 weeks with the foetal cardiologist from great ormond st.

At 20 weeks they found a small hole in the heart (VSD) (which means one lot of surgery some time after 1 year old) and then got me back in 2 weeks later for a specialist scan with 'the man' and the original obstetrician thought the hole was smaller than first thought and that things were looking better. Anyway - 'the man' looked at the pictures and said that there is actually a valve deformity aswell which makes it a partial AVSD. I believe that 50% of AVSD's are found in babie's with Down's syndrome. Anyway - it means surgery at around 6 months and then they will also know if they need to do one more further op to repair the valve if it is still a bit leaky when they have finished.

So - in fact for me I think I would find it less stressful to put a baby through heart surgery than an 18 month old or 3 year old say as although 6 month old babies are very small, they don't know fear in the same way that a 2 year old does I don't think. I think it's easier emotionally for them. I might be wrong but please don't correct me if I am as it will haunt me!!!!

That's really funny about the HCG - I too wanted to know how much weighting each value had and my PAPP-A was 0.9 and my HCG was 2.7 or something. Nuchal was 2.9. I'm sure something is different with this pregnancy as last time the nuchal was 2.5 and I don't know what the bloods were but my risk came back at 1 in 150 i think. I was 37 then and I'm going to be 40 when this one is born. I think the bloods must be very different 'for me' this time.

Sparklies - all the very best for your op tomorrow! I'm sure you'll be fine and it will be a huge relief once that padlock is on! Take good care and give yourself plenty of rest time afterwards!

Hi,

Sparklies, hope today's op went ok and that you recover quickly.

Remember - sounds like you're in good hands at Great Ormond Street, but the thought of surgery when your LO will be so little must be horrible. Hope the 30 week scan helps.

My PAPP-A was about 0.25 or 0.3, I think, and HCG 1.4 - I'm 38 and the screening midwife reckoned if I was slightly younger this, together with the 1.6mm nuchal, wouldn't have made me high risk. It seems age can make a huge difference to their modelling.

It's certainly all made me think again about whether I'd have the screening tests if/when we think about a second as it just seems to add stress.

Today I'm just aching as my bump seems to be going through a bit a growth spurt!

hi,i had a nuchual measurement of 6.7mm,went for the amnio at 16+5,amnio itself didnt hurt just felt very emitional,had the call to say my baby girl had downs,i feel so ashamed that i cried over this&didnt know what to do,i realised downs didnt matter very soon after&wanted my little girl no matter what,sadly at 18+4 i went into labour&my little girl was born sleeping,i have so much guilt that i had the amnio as i will now never know if she died due to the amnio or naturaly,my advice would be if you would continue the pregnancy if your baby has downs the dont risk the amnio
best of luck x

Thanks everyone! I'm pleased to report the surgery went well (only just got out of hospital) and baby is still present and correct! I made the right decision having this stitch as my doctor said given the state of my cervix (very soft and hardly anything there) he'd have had trouble with a regular vaginal stitch.

Now I just have the NT results to fret over..

spaceal - sounds like we have similar PAPP-A although my HCG is higher. I think you're absolutely right about the age thing.

youmaynotlikethis I am so sorry to hear about your precious little girl. I can't imagine how hard it must all have been for you :-(