29 weeks, contemplating termination for medical reasons

[notinagreatplace]

Having a really tough time this weekend.

We had a bad 12 week scan with a high nuchal (5mm), high odds (1:4) of trisomy 13 with some soft markers (very high heart rate, single artery umbilical cord), and what looked like a missing right forearm.

The CVS came back normal, the nuchal reading went down, the heart rate went down and they spotted the third vessel in the umbilical cord, so we were told that it looked strongly like a one off problem with the right arm. That was confirmed by a few different scans.

Then, last week, the consultant said that he was concerned about the left hand, we went back in yesterday for a scan with the geneticist and she confirmed that both hands now have problems. It looks like the baby has 'split hands' on both sides - i.e. a thumb and a little finger and maybe one or two small fingers in between. That makes it, apparently, much more likely that there will be associated problems.

I don't think my husband and I are well equipped to parent a seriously disabled child. If it was just the problem with the hands, we might proceed but with the prospect of wider problems, I think we need to terminate. But at 29 weeks, it's just so hard. This baby was the result of 3 years trying, 3rd IVF attempt, with donor eggs (even though I'm only in my early 30s).

I just don't know what to tell friends/family/work. My parents are going to be devastated. I'm terrified of the actual termination procedure - at 30 plus weeks (which I guess it will be by the time that they can fit us in), I assume it's basically like normal childbirth but without getting a baby at the end of it. I can't believe we let ourselves get our hopes up as clearly having a baby is just one of those things that other people can do but not us.

Don't know what I want from posting this, really. I don't think we'll be telling anyone in real life (will probably tell everyone that it was a stillbirth) so maybe just to put it out there.

So sorry for you OP. whatever decision you make will be the right one for you. Xxxx

Hi op I am so sorry you are having this stress.
I am completely pro choice and a midwife.
I know you are probably reeling from all the bad news you are getting, however remember the doctors don't know everything and I do think tend to be very pessimistic in these type of circumstances.
We do see quite a few limb deformities on their own in otherwise very healthy babies.
Good luck with your decision.

Thank you for the supportive messages.

There is a large part of me that would like to think that it'll turn out just to be a problem with the two hands - if I could know that that would be the case, I would almost certainly not terminate.

But, from doing a bit of research, it seems like that is unlikely - it seems as though it is probable that there will be other problems. Hearing loss, developmental issues, and various others have strong links to this problem. When it looked like the problem was just on one side, we were really happy to continue the pregnancy - partly because having one fully functioning arm/hand is clearly a lot better than two partially functioning arms/hands but mostly just because it was greatly more likely that it was an isolated problem.

The hospital really don't seem to want to give us a clear sense of how likely it is that there will be other problems but, having had some time to think about it, we think that the whole collection of issues (both hand problems, right arm stuck in one position for every single scan (so it's not clear if that hand would even be useable), the baby being very small (on the 3% line), mild microgranthia (small chin - associated with other problems), a really high nuchal reading, and a very high heart rate at 12 weeks) stack up to suggest that the limb problems won't be isolated.

It's really hard, especially at this stage, but I think termination is probably the right decision for us.

It sounds awful but I almost wish that the CVS had shown trisomy 13, this is so much harder.

I'm so sorry you are having to face this. Please remember you are not a bad person, you are human. You don't sound awful to me at all - you sound completely reasonable and rational. Just because some people would feel able to continue with the pregnancy, it doesn't mean it's the right decision for all of us. You need to make the decision that's right for you. I wish you and your DH all the best.

Don't feel you have to justify this to anyone. If you can not make peace with this pregnancy that is ok. It doesn't make you a bad person.
You need to do what's best for you and not think about what anyone else would do.
It's ok to say 'I don't want this'.

What a difficult position and this must be all consuming for you. No words can probably help you but I am thinking of you OP. This must be so tough.

That makes it, apparently, much more likely that there will be associated problems.

But they won't necessarily be serious problems. I know two people, one born with only one forearm, and another person who has no fingers or toes. This person was also born with a club foot and other cosmetic problems that were solved.

They are both clever, educated, funny, great people. No other issues at all. I really would think very, very seriously about how you will feel if you go ahead with the termination knowing that your DC would most likely be normal in all other respects.

OP, I'm so sorry you're having a difficult time.

I know this doesn't help specifically, but I know someone with only two fingers on each hand, who is not disabled in any other way at all.

I think it's important for you to talk to a support organisation about this as I think it would really help.

knowing that your DC would most likely be normal in all other respect

That's not really helpful is it because it does not appear to be likely at all from the OPs research and other factors from the scan. It's not a decision being taken lightly.

OP, I wish you well

So sorry to read your situation, from a practical point of view you could look for another expert opinion, perhaps worth investigating if there are any private specialists that can give you a second opinion on likely problems.

Whatever your decision, my thoughts are with you.

I've name changed for this. I've had a TFMR at an earlier stage than you and my sister has had one at about the stage you are at now. If I could give you some advice it would be to find a consultant/doctor that you trust and get all the information that you can - even if you have to pay a specialist, it will be worth it, because I can tell you from experience that the more informed your decision the less likely you are to be troubled by it later.

I don't think a lot of strangers on the internet can possibly hazard a guess as to how disabled the baby might be. My sister, like you, had a clear karyotype but the baby would still have had a limited life-span.

If you do decide to have a termination have someone with you who can advocate and be firm i.e 'can you please give her some morphine' - don't be more brave about it than you are being already.

Obviously you will be devastated afterwards, but I found a bit of relief when the process was over and I was no longer pregnant and waiting to terminate. Hormones are strange things and I found that my hormonal low was not immediately afterwards but about a week later - the lows were intense.

Be kind to yourself, this is incredibly traumatic. I wish I could wave a magic wand and make it go away for you, or give you the definitive answer to how to cope, but anyway.....have a (((hug)))

This an awful situation for you to be in and you have my sympathy, it's a conversation my husband and I were having three years ago whilst pregnant with my first, we had the 12 week scan and we're told 1 in 2 chances of downs, basically prepare ourselves for a termination was the conversation the women on the phone had with me, I had a cvs the next day and it came back clear but through every scan and we had over 10 in all, there was always something, she was going to be a dwarf, her legs weren't growing, her measurements on this or that weren't in the right proportions.

We continued with the pregnancy, though the stress was huge, as we relied on the cvs being clear meaning all would be ok. Our dd was born with a heart condition called PDA which required an operation at a year to close a hole. But other than that she was and is perfect. Yes developmentally she was about 6 months behind her peers at 1 year, was the last to walk and talk, as the condition left her with no energy for anything but she is catching up rapidly and by school age there will be no difference.

I think your are the only ones who know the honest truth about what you are able to cope with as parents, we knew that we could cope with physical difficulties but not mental difficulties and that is why we went through with the pregnancy. If the cvs had come back with issues it would have been a totally different situation but that is what my DH and I believe we can deal with.

Please do bare in mind though regardless of what you decide to do and what you have gone through to get as far as this pregnancy, it has no baring on what the future may hold with regards to children. My DS arrived two years later with not one problem throughout the whole pregnancy, they could not have been two different periods of my life.

You have my upmost sympathy for what you are experiencing

Gosh you poor things. I'm thinking of you enormously x

That's often the problem, in my view, of these scans: you might be facing a serious problem, but on the other hand, it may well be benign. You won't know until your baby is born. So what to do? I guess you have to do whatever you think you can live with, and you have to both be in complete agreement about the decision. I've terminated at 20wks, 29wks and 12wks. Those aren't typos. I guess if termination is still an option for your baby after 24wks, then it means your doctors think it's very serious. At your stage of pregnancy, your baby will be given an injection into the heart and then you will be induced. You may want to get your baby some clothes, and take some pictures (for ideas see www.nowilaymedowntosleep.org ). I'd ask your hospital if they have a bereavement birthing suite so you aren't cheek-by-jowl with the happy new parents. You should be able to spend all the time you like with your baby; you'll be asked your a name for the certificate of still birth. You can also have a funeral for your baby, or you can let the hospital arrange it. If you haven't been referred, I'd ask if you can have access to a bereavement midwife or some other type of specialist counselling, just in case you need it in the weeks and months after - the aftermath may not be pretty. Giving ARC a call at any point I would also recommend; I'm on their private forum. If you want to know more about me, I blog here:
fryingpanorfire.blogspot.co.uk.

All the best with whatever you decide.

Oh god Cat! I've just had a look at your blog. I'm so sorry that you find yourself with so much experience in this area, though I'm sure it is more help to OP than anything else posted so far on this thread

I just wanted to post and say firstly I'm very sorry to hear this I no it's hard, my son was born with a genetic condition diagnosed 5 months after birth. It's progressive so he is now 2 and very disabled. I never thought I would be able to do it, but you do you get through because you have to and you love them unconditionally as its your child. I adore my son and looking after him is very rewarding.

You don't no what will be wrong until your baby is born they can only predict and they aren't always right. I personally couldn't have a termination that late but it's your choice xx

I'm sorry that some of you have had to go through this before. It's pretty horrible.

The problem that we have is that this is so rare that it's really hard to know what we're actually dealing with. It doesn't help that, even on the limb side, they're unable to tell us what the right hand looks like (they think it probably has a thumb and a little finger but they're not sure) and there's been a problem with the right arm throughout that makes it hard to know if that arm could even be useable. That means that, even just looking at the limb side of things, it's possible that the baby will only ever have use of a left thumb and left little finger, which is obviously not great.

The geneticist wasn't terribly helpful at our last appointment, I think probably because it is so rare, all she really seemed to want to say it "has associations with other problems". Our eventual conclusion over the weekend was that we should try and get her to be more specific about the likelihood of other problems - despite having read almost everything on the internet about it, I am still unclear - and also speak to the hospital about how long it would take to schedule in a termination, if that's what we decide.

I think both of us rationally think we should terminate but emotionally don't want to.

To be honest, the advice you're getting on your baby's condition does beg the question about whether this actually satisfies the conditions of having a termination after 24wks. Usually this would only apply to cases where it's unambiguous that there's something serious going on: brain and/or other vital organs missing or seriously malformed and/or confirmed chromosomal or genetic issue. That they don't seem to be too sure about even the condition on of baby's hands makes me think they have given you a 3d scan or an MRI? The normal scans are the grey black and white ones, whereas 3d are orange screens and the structures of the baby are very detailed. These are available on the NHS. In addition, the NHS can offer foetal MRI. I'd ask about both if you haven't already had them. I was eventually diagnosed using the array CGH test, so if your baby's chromosomes have only been looked at using conventional methods, then ask why you can't have array CGH. It's a basic test in the US but the UK seems to lag. I do appreciate the horrible situation you are in. I would also advise a second opinion if you aren't already at a top hospital. I will send you a note with some suggestions.

I'm probably being a bit unfair to the hospital, which is one of the top hospitals in the country. They are pretty positive about the left hand now (though they clearly missed the problem for some time - a couple of previous scan reports specfically say that fingers and movement was seen on the left hand) and the 3D pictures that we saw at the last scan were unambiguous.

The right hand has just been really difficult to see throughout because the arm has been permanently flexed. For some time, it wasn't clear that there even was a hand or forearm. I think this misled the consultant considerably - he formed the opinion that it was a one off vascular problem, rather than something genetic.

They've used 3D scans throughout, it's just been bad luck that it wasn't spotted. Now that there is a problem with both hands, they think it's highly likely that it is a genetic problem of some kind. They seemed to be a bit surprised that we didn't want to terminate purely on the basis of the limb problems because the limb problems are quite severe - as I say, the only thing that they can semi-guarantee is that the baby will have a left thumb and left little finger.

When they did the CVS, they did do array CGH, I am fairly certain. The geneticist said on Friday that she'd ask them to rerun it with this in mind but that it would take a week. They have also offered us an MRI, though I am quite frustrated that they only 'hope' that they can get it done this week. We need to know a bit more, though, about what these tests can tell us/rule out for us as we were too shocked on Friday to ask the right questions.

Oh op so sorry your on such an awful situation.

I wish you all the strength in the world to make the decision you feel is best for you. Please remember it's your decision and your life and you don't need to justify it to anyone!

Thinking of you

I am so so sorry you find yourself in this horrendous position especially after all your difficulties conceiving. FWIW I would be thinking exactly the same as you.

The only practical thing I can think of to suggest is - if you are near London and if you have the funds - a visit to the Fetal Medicine Centre in Harley Street, and specifically a consultation/further scans with Professor Nicolaides there, as he is so expert in this field of ante natal testing and foetal anomalies. From what I have read of him, his bedside manner is dreadful but it sounds likely that he would be very open with you and willing to give you a clear opinion, which sounds like what you are missing from your hospital.

I wish you the very best whatever you decide.

I am so sorry you find yourself in this situation. We also had to make such a decision at 19 weeks.

I saw what you wrote about rationally thinking one thing and emotionally wanting another. Truly I would counsel you against feeling there is a 'rational' decision in these circumstances. I would say that this is a horrible situation in which there are no right answers.

My experience was that while others would tell me I had done the 'right' or 'sensible' thing and expect it to help, that was of bugger all comfort to me when experiencing the fall out at 3am. What did help was remembering the powerful emotional urge I had, when we finally heard the extent of our little boys problems, to spare him from the suffering they would cause him and let him be at peace. It took a lot of conversations and information before that happened though, and I needed all of that information to be able to live with the decision we made.

We went on to adopt two children, one of whom has a considerable degree of special needs, though of a different sort from our first little boy. It isn't always easy, but being a parent to a child with additional needs is perhaps something you grow into - he is what he is, we all get on with it, and we love him more than the world. That's very hard to explain in the abstract.

I think the best advice I could give you is to take all the time you need, get all the information you can - and I would feel you need more for what it's worth - and try to make a decision that you can feel at peace with as well as one that seems rational. And then - whatever you decide - look after yourselves.

All the very best.

Having quite an up and down kind of day. Have convinced myself that I definitely think we should terminate, definitely think we should keep the baby, definitely should terminate, round in circles..

Had a meeting with the consultant. His view is that the high NT combined with two problems (left hand, right arm and probably hand) is a fairly strong indication that there may be other problems that we can't see on the scans. He and the geneticist both confirm that they aren't totally sure about what exactly the problem with the left hand is - it could be 'split hand' or it could be that the fingers are flexed. I personally think that the latter would make more sense, given that previous scans report having seen the fingers. Either way, he was clear that one thing is definite - the baby would definitely not have full function in either the left hand or the right arm.

The problem is that, without an actual diagnosis of the problem, it's really hard for us to make a decision because we just don't know the extent of the problems that the baby could have. If we knew it was just the limb problems, we would probably proceed (though might have made a different call if we had found out earlier), but we just don't have any meaningful information about the likelihood/nature of other problems.

We have an MRI booked for Thursday, should have further chromosome analysis by Friday, and probably an appointment with the paediatric plastic surgeons who can give us an idea of what they might be able to do for the child.

After that, we should hopefully have enough to make a decision.

I'm glad you've got and are getting further information not, even if it's not as much as you'd like. It sounds like the consultant has quite a negative view . Such a hard position to be in.

It is so difficult, I would imagine that is is highly unlikely it is just physical problem and possibly something very rare so they just have no idea of the outcome

There is no right choice, no right way to feel it's just incredibly sad and heartbreaking all around what ever the outcome and decisions made. Even with a best case scenario it is emotionally and practically hard having a baby that will probably need extensive surgery - obviously all worth it but this is the beginning of a long journey in addition to the usual stresses and strains of being a parent.

Big hugs x