Anyone ever have a late amnio for genetic testing?

[Sparklies]

I'm 26 weeks, and I have a late amnio booked at 31w6d at Kings College, so pretty much one of the best places to have one. But I don't know if I will go through with it.

Background: I screened 1 in 34 for T21 at my NT scan, and a clear ultrasound at 19 weeks left me with 1 in 70. It's bloodwork that's bad, particularly the PAPP-A - all scans have looked normal.

We declined invasive testing at the time for a variety of reasons, including not wishing to terminate, complications with the amnio resulting in a loss would require a classical c-section due to my permanent stitch, but most importantly - if I lost the baby as a result of the amnio I would never forgive myself.

I was offered a late amnio and assumed an amnio at 32 weeks would be safe but I'm 26 weeks now and getting closer and having doubts. Research online has led to stories about cord laceration, needle damage, infection etc as risks even at 32 weeks. Apparently some of the risks are higher than earlier on because the baby is bigger and more likely to hit the needle What I don't know is how likely any of this is - obviously any invasive procedure carries a risk but some numbers are nicer than others!

I can accept pre-term labour as a risk, but damn, I do not want to lose this baby as a result of a choice I made to just avoid wondering on delivery day (oh, and the final six weeks of course!)

Has anyone had a late term amnio? Did you ask about the risks? Did you get actual numbers for the risks?

The irony being I had open abdominal surgery under general anaesthetic for over an hour at 13 weeks, with my uterus lifted clear out my body so a transabdominal stitch could be fitted, probably about fifty times riskier than an amnio.. the difference being this had to be done of course and I'm already certain it has saved this baby!

I think I am going mad with this indecision!! I desperately need to know but I am scared stiff of risking the baby or we'd have got one done earlier, y'know?

Argh. Help!!

If you wouldn't terminate, is there any point? 31 weeks is very late, you would possibly only have 9 weeks left of wondering. Sorry to be insensitive, but at this late stage what would the point be?

If you would terminate, then go ahead and find out, though a termination at this late stage would be traumatic, to say the least.

I really really don't see the point of risking infection/waters breaking etc at this late stage. May put your mind at rest etc but is that worth the risk?

Sparklies
i have been on this section of mumsnet since I had cvs and a termination in October so i have seen your posts about your pregnancy for a while now.

As I said I had a cvs as i would have and did consider termination. Mainly I did this because my scan showed hydrops as well as the baby having T21. we were really in two minds about terminating and if there had not been hydrops it would have been a much more borderline decision.

In all the posts I have read from you, you have never been borderline about a termination. You seem to have been absolutely sure about keeping this baby. Surely the worst case scenario is that the baby has T21 and the health complications which go with that? this was my biggest fear and i felt the hydrops wasn't a good sign, in contrast you have had a reassuringly clear scan which indicates a healthy baby (in as much as this can be predicted). If I were you and in your position I would not have amnio and just wait for the baby which, if it has T21, is unlikely to have the worrying health problems that can be associated with that condition.

I hope you are alright and not too stressed with the waiting. Take care. x

PS have you asked kings for their risk percentage?

Thanks everyone for your thoughts.

Definitely don't want to terminate, no matter what. Termination never has been and never would be something we'd consider, except for issues incompatible with life (no judgement on anyone else). My consultant assumed we'd want to terminate when I asked for the late amnio and told me we couldn't as it's not incompatible with life before I'd even had a chance to say we didn't want to. Then again my consultant sucks.

The issue is more of serious mental state and bonding issues. I've already spent over 3 months wondering if this baby has normal chromosomes, and it's not an easy wait to put it mildly and it's stopping us from getting attached to the baby. Since we made the decision to have an amnio at 32 weeks I've been counting down to then as a time for answers. Sticking another six weeks on the end (delivering at 38 weeks) feels like an eternity at this point, and means I won't get to enjoy the pregnancy at all. And delivery day will be spent looking for features of Down syndrome and wondering.

The build up to the day of birth will be horrifically stressful, and even at birth you can't tell for sure so we'd still have the uncertainty. The two week wait post ovulation has nothing on this six month wait. Waiting it out is not an easy choice (then again nor is amnio, but if there are no complications, at least you have no regrets!)

Also if we do get a positive diagnosis, we would like time to prepare. Not only for myself, but particularly for my DH who will be a lot more devastated than I would be as he refuses to learn anything about Down syndrome unless he has to. I am genuinely worried he will reject the baby. He wouldn't terminate either but he has a head-in-the-sand attitude to it all. And of course if the baby is fine, he might actually start to be interested in this pregnancy before the baby arrives.. so far he hasn't even felt him kick.

When I was originally told there would be no risk with a late amnio I was fine with it, but now I am wondering if I wasn't told the whole truth. I did ask Kings and they said "1%" but that's the national figure they have to quote for amniocentesis in general for all hospitals, not late amniocentesis at their hospital. As to what that 1% means (complications? loss? pre-term labour?), goodness only knows, it was hard enough getting a number out of them and as soon as she said it I knew it was worthless and didn't apply to my situation and didn't push further. I also spoke to ARC and they seemed to think it was "safe" to have an amnio at this stage. Contradictions.

It's essentially a case of weighing mental state/problems bonding with the baby for both parents with the risk to the baby. I can only make that decision if I know what the risk to the baby really is!

Even amnio doesn't necessarily mean you will know all the risks, I had a standard amnio and whilst not Downs, my ds has SN that amnio didn't pick up.
I think you need to look at the big picture and not be so much in here and now, give it a few more weeks you will have a real baby not a concept of it. This also means that you will need to accept the baby as it is.

As for men, yes, they don't live it day in day out the same way we do and I think they relate better to a reality then a concept, they usually get smitten by the real baby, having said that many can't cope with SN, eg my OH found it impossibly hard to come to terms with my ds SN, it took years.

I found with my consultant that they are very reluctant to give definite percentages for anything as there are no guarantees (maybe it's a legal thing). I understand what you mean about the mental state and why you might want an amnio.

For what it's worth I also terminated my 3rd pg because of HRHS so refused to bond at all with my 4th baby during pregnancy as i didn't believe he would be ok. When he was born (at 36 weeks so unexpectedly early) I was elated and had no problem bonding at all.

I read a few family stories about Downs when researching it for our situation with my 5th pregnancy. If you look at the downs association site in only one case did the family know beforehand that the baby had downs.

Do you think it would help to call the downs association for advice (and perhaps a mentor family) for how they dealt with that bonding process so you can prepare yourself for how to help DH when the baby is born IF it has T21?

I hope you manage to make a decision you are happy with. x

nightcat - yep, I know amnio doesn't give all the answers (if only!) I'd just like to have a level playing field with the rest of the expecting-a-baby world if that makes sense.

I'm sorry your OH had problems coming to terms - I can definitely see we would have a similar issue. DH just wants and therefore expects every baby to be "perfect" - his words - and I fear he will blame me (DC3 was mostly my idea that he went along with - didn't force him or anything, but he'd probably have preferred to stick with two) and the baby if this one has problems of any kind.

In some ways I wonder if it may be better for him to find out after he's met the baby for the reasons you suggest.. but that would only be the best option if the baby does have Down syndrome.

manitz - I'm not necessarily looking for guarantees, just an idea of the risk - I used to be a software engineer so my brain likes to work things out with numbers really! But yep - convincing a consultant of that is another matter even if I don't need an exact number, just a vague estimate. I'd be happy with "it's only happened once in the five years I've worked here" or something. Yet they always seem quite happy to give out, in my opinion, seriously flakey risk ratios for the NT screening (I had two screens within 5 days - one was 1 in 60 and the other was 1 in 34) yet won't give out numbers on other things.

I nearly lost my second baby to incompetent cervix at 18 weeks and it wasn't until about 30 weeks that I started to relax enough to think maybe we might get to bring a baby home with us as I'd been told the chances were slim originally. By the time she arrived at 35 weeks I knew she was going to be okay which made it so much easier. I hate that I am going through the same thing again with this pregnancy but for a different reason which is probably why I've put such a mental weighting on finding out for sure at around that time. I guess at least this time we (all being well!) get to keep this baby no matter what - it's just whether he has long term problems or not.

I'm so sorry to hear your third had HRHS :( I'm not surprised your fourth pregnancy was hard going.. it's a hard legacy to shake off mentally.

On a personal level I'm curiously reluctant to find out too much about children with Down syndrome until I know for sure - weirdly I'd feel like a fraud without a definite diagnosis, and I'd feel like I'd wasted everyone's time if all was fine. And weirdly I feel like I'd be jinxing something too. Perhaps I am also in denial a bit as well.

I'm no good without answers.. and I feel out of control. I'm somebody who tests from 6dpo so I can get an answer as soon as possible so this wait is destroying me! I was okay thinking I would have answers before the birth but now I may not do, I'm going to pieces.

Thank you both for your thoughts - I am listening and it does help!

it's only the statistics Sparklies (as well as hormones), probably normal, everyone wants to be a perfect family. Try breaking a chain of thought, think positive, life will be different again, but not necessarily worse.

When my ds was dx, I felt like sending him back but of course didn't.

Hi Sparklies,

I totally understand your reasons for wanting to know and they're very important but likewise if you didn't know, everything really would be ok too. You aren't responsible for your DH.

Can you ask what the risk of infection etc is specific to the consultant who would be doing the amnio and then make a decision?

I think for me, introducing infection would be the biggest issue....but maybe not for you, i don't know.

nightcat - I have good days and bad days as I am sure you can relate to. Most days I am feeling pretty positive about it all, but then others I sit around stewing, convinced this baby is "the one". Been doing a lot of that lately on the back of worrying whether to do this amnio or not!

Always reassuring to hear about others' feelings when faced with a definitive diagnosis.. I can't imagine anyone swinging from the chandeliers with the news obviously, but it's nice to know we're all human and if I do get bad news, I'm not a bad person for having negative thoughts.

Remember - Heh, yes, you definitely know all about waiting it out! I know it would probably be okay in the end, I'm just crap at waiting. I wasn't somebody who declined invasive testing right away - I even almost set up an appointment, and I flip-flopped over whether to do it for weeks. So I'm a true borderline case, hence the 32 week option seemed like a good compromise in my case.

Infection probably is the biggest risk, but having played with Dr Google I've found horror stories of cord lacerations and eye injuries and goodness knows what else. I just need to know whether they are ridiculously rare or something that doesn't happen any more for whatever reason but I can't find any answers. Coincidentally I'm due to take another course of super strength antibiotics around that time (prophylactic for my stitch) so I suspect that may help with infection if it happened too.

Having not got any answers out of Kings, I've emailed the Fetal Medicine Centre (same doctors, pretty much) and asked them. I'll see if they can give me a useful reply, but I'm not sure they will.

Thanks again everyone.

If you wouldn't terminate anyway why don't you see if you could arrange to meet up with some parents of children with children with DS (or have a chat on the SN board).? So you prepare yourself for (what you imagine now would be) the worst case in a different way. I wouldn't advise that if you were considering termination - too upsetting for all concerned - but if your wanting to know is to do with fear/worry about having a child with DS then talking to people who have children with DS who are still having fine, happy fulfilled and dandy family lives can do a lot to put your mind at rest.

If the scans aren't picking up heart problems etc then it doesn't sound as if you don't need to worry about additional health problems on top.

The Down's Syndrome Society would probably be able to help. They may even be able to put you in touch with someone able to talk to you about having a child with DS.

The chances are things will probably be fine (by comparison ds2 and ds3's risk for having autism was far higher than your risk for DS- both are fine) but I find mentally it can help to prepare that the baby might be born with problems. We certainly assumed that ds2 and ds3 could well be autistic (and had to wait really for 18-2 years to know they weren't). Then when everything's fine it just makes it seem easier (and by then the baby has arrived and it doesn't matter in the same way anyway tbh).

I'm sorry you had such a long and worrying wait over knowing if your children were going to have special needs - that cannot have been easy.

If I was going to wait it out, my way of dealing with it wouldn't be to learn more about it and prepare for bad news, even though to many people that would seem like the sensible/practical thing to do. I know how my mind works. Waiting it out has already done enough damage.

Getting through the next few months would be very hard mentally, and given the chances are that everything is fine, I don't want to spend the final few months of my pregnancy dwelling on something that might never happen. I'd rather try and forget about it as a way of coping. I know it's not very practical but I actually think it is better for me and the baby in the long run in our situation, no matter how it turns out.

I don't normally bury my head in the sand over things but if I have no control over something and no way of having an answer any time soon, and I have the facts that are important, I've found it's the kindest way.

I am actually okay, or rather as okay as anyone can be, with the idea of a child with Down syndrome and have learned enough to know it's not the end of the world so I don't feel I would need to spend time with families etc. My husband would be the one who would benefit and I know he would refuse to without a firm diagnosis.

If I do have the amnio however, I either know that all is fine (or as fine as it can be) - or we can then use the time to prepare properly knowing we're not wasting anyone's time and the information will be needed. We're lucky in that Down syndrome is something that can be diagnosed antenatally so we would have the advantage of preparing which so many people do not.

In terms of my mental health, which is already fragile, and for the sake of bonding with the baby, I do think the amnio is the far better option in our situation so long as the risks are negligible - which is why I asked the question about the risks, rather than asking for help waiting it out.

The FMC emailed me back and said they'd had no cases of infection or preterm labour in the last few years from late amnios, but could not give a risk ratio.

I think my final choice will be to simply show up for the amnio and speak to a senior doctor and decide on the day.

Sorry if I appeared insensitive sparklies, I do understand why you want to know now. When my Mum was ill I was on google straight away. I am the same, like to know all facts and eventualities.

If the fmc are saying that, good sign, could you afford to go with them? I have heard nothing but good things about them. Even though, with ultrasound it seems like a pretty safe procedure, I'm assuming they can clearly see where they are poking the needle.

Google isn't always helpful for the more rare of circumstance.

How pregnant are you now? I will be following, hope everything turns out ok .

PS - in case anyone comes across this thread in the future, there is this:

www.ncbi.nlm.nih.gov/pubmed/18251361

Small sample size, but moderately reassuring.

Ah I see you are 26 weeks, after hearing your reasoning I would go for it. Worst case scenario at 31weeks your baby would have a good chance of survival (I'm thinking waters breaking).

Mental health in pg is very important, I had and which turned into pnd and it was awful. Do what you need to do.

You have been through a much more risky procedure, I'm sure it will be fine.

blackletterday - don't worry - I don't think you were insensitive! :)

The whole NT screening issue puts me in a very weird place. I am also somebody who needs to know everything too, but I am very risk adverse when it comes to endangering the pregnancy for reasons other than improving chances. So I have two very conflicting issues going on - it also means I can easily see both sides of the invasive versus waiting-it-out coin because it could so easily have gone the other way if my odds were slightly worse or we saw a soft marker or whatever.

Most people either have the amnio, or wait it out completely.. not many want a halfway house like I do, hence why it is so rare I guess!

The FMC are really good, especially the professor, and it is exactly the same doctors at Kings College who I would be seeing for free on the NHS, so I am reassured by their statistics, it has to be said. Even if I don't see the professor at Kings, I would ask to see one of his senior doctors and ask him or her these questions.

I'm 26w3d now - the amnio is scheduled for March 14th at 31w6d. I'm actually more okay with the risk for PTL than most people because I'm half expecting it anyway due to my other high risk issues! I'm taking prophylactic antibiotics for those other issues too, which would minimise the risk of infection as well.

Just seen your last message - yep, you are absolutely right about the mental health. My last pregnancy was unbelievably stressful as mentioned in a previous comment, and unsurprisingly I also ended up suffering from depression after the birth after spending so long on tenterhooks. I don't want a repeat of that experience! I'm sorry you had it too.

I just wish those doctors would hurry up with that non-invasive diagnostic blood test they keep promising, then this decision at least would never need to be faced by a family again.

I would go for it sparklies, you will get the answers you need.

Reading your thread I am glad I opted out of the whole testing debacle. Once you know one thing, you have to know the rest. Blimey though it's tough, I do understand your need to know.

After dd I did refuse all testing though, with her the test for downs etc was a more opt in than opt out service.

These tests seem to cause more aggro than they solve.

Yes, it's a whole can of worms, isn't it? I think I probably will do the NT screen again but I wish I could ask them to not give me a ratio for T21, but I don't think it works like that! I would want to know for T13 and T18 as they're generally incompatible with life but by knowing those numbers I'd probably have a fair idea about the T21 numbers too. There's also the whole bloodwork thing - low PAPP-A can mean it is useful to have extra scans later on as it is a marker for IUGR which may not otherwise be detected.

So it's a minefield whatever anyone decides to do basically! There's no right answers for everyone, a downside to every choice, and millions of different combinations of situations and beliefs and so we all muddle through as best we can

Are you sure you wouldn't terminate - if there is an inkling you would faced with a positive result, or that your partner might want it, I would think carefully as a termination that late would be horrendous (and you will of course be given the option, perhaps even encouraged to terminate should the test come back positive).

Are you also sure that you won't find something else to worry about if the test comes back clear? I can be good at doing that, remove one worry then find another.

Could you get counselling before testing? I actually think that testing this late in pregnancy is a huge undertaking because even with a clear result you still have the stress of a potential miscarriage (although granted I understand I write with the perspective of knowing that life with a child with severe learning disabilities is fine/good/better even). I also don't think you can prepare yourself for having a child with a learning disability tbh because when you think aout learning disability without a child in your arms you are thinking without the love and attachment that is there if it actually happens. And tbh if a baby has DS but no health problems then it's pretty much like having any other baby, the differences come later by which time you would enter a burning building for your child iyswim.

I'm not saying don't test, I'm just saying be aware that it might not give you the peace you are searching for and protect yourself before you go for it.

TBH the wait with ds2 and ds3 was ok most of the time, only difficulty was when ds3 went through a funny patch. I just decided that there wasn't anything I could do and so I wouldn't think about it until an age when it would have been appropriate to refer them. There was a lot more angst and wondering and is he/isn't he with DS1 (who was of course).

I am 100% sure I would not terminate - it is against my personal beliefs. I will take whatever life throws at me, and learn to deal with it. I'd even have an issue terminating a baby with T18 or T13 - so that kind of diagnosis is my worst nightmare. No judgement on anyone who does terminate for whatever reason, I am not other people!

Also it's illegal to terminate a baby with Down syndrome after 24 weeks in the UK as it's not incompatible with life.

I had a rough pregnancy before - I'm quite certain I won't remove one worry and replace it with another - although I would be justified as I'm high risk for both IUGR and preterm birth as well anyway. When my worries were removed with DC2 the rest of the pregnancy was fine.

It is important for me to know because if all is fine, then I don't want the rest of my pregnancy and the birth overshadowed - it's been depressing enough as it is already. If the news is not good, then with Down syndrome at least I can learn about potential problems with say, breastfeeding or other things we need to look out for. And maybe spend some time with families who have children with Down syndrome so we have a better idea of what to expect later on. I don't want to do any of that if I don't need to, if you see what I mean.

The whole reason I wanted a later amnio is because the risk of miscarriage is not the same as an earlier amnio - it's supposedly safe (or at least a large order of magnitude safer) with the risks being preterm birth rather than loss of the pregnancy. My post here was simply asking if people knew if that was the whole story or if there was anything I needed to be worried about that I hadn't been told.

Sparklies - abortion after 24 weeks is allowable on the grounds of:
?if it is necessary to save the woman's life
?to prevent grave permanent injury to the physical or mental health of the pregnant woman

?if there is substantial risk that if the child were born, it would suffer from physical or mental abnormalities as to be seriously handicapped.

There is no requirement that the condition be incompatible with life.

It doesnt sound like the distiction is relevant for your case though, but I thought I would post in it case it was relevant to anyone else reading this thread.

Sparklies - I wasn't judging you or any decision you make in any way. But it is legal to terminate a baby with DS up to birth (as it counts as a 'severe disability' according to medics) and you need to be aware that you may well be encouraged to terminate by members of the medical profession should a result come back positive.

If you are clear in your own mind, then it is less of an issue but I do know women who have come under enormous pressure to terminate late on in a pregnancy with a DS baby - and I thought it wise to mention it as it's another complication of testing. The women I know obviously went on to have their babies and were able to tell the medics to bog off (one had to tell them a few times), but it can obviously be very confusing to someone less sure.

Really? Oh well, it's a can of worms I don't care much for touching - I try and stay as far away from abortion debates as possible as they just make me feel sad.

My current consultant, who I don't trust at all, told me I wouldn't be able to (he gave this as a reason for initially refusing to refer me for the 32 week amnio) but that's not the first bit of rubbish he's spouted. I just didn't bother checking the law because it really didn't apply to me in this situation.

If they did try and encourage me to abort I'd give them what for.. I'm used to having to advocate for me and my babies - I wouldn't have two of them if I just sat back and accepted the stuff they come out with sometimes. Hopefully it wouldn't come to that though!

@Sparklies are you still on mumsnet?
I’m in the same situation now at 24w and considering late amniocentesis.
What was your outcome?

@paranoidkaty I had an amnio at 30w if you would like to DM me please do x