trisomy 13 or 18

[Hopefullyhoping]

After a long few days of lurking, I've decided to take the plunge and post to see what words of wisdom you lovely ladies can offer. At our 20 week scan, the so no graphed detected a cleft lip, small head and problems with the heart and kidneys. She gave us the devastating news that the most likely cause was T13 or 18. I had completely missed the point of the 20 week scan and had no idea what she was talking about although it soon became all too clear with the help of good old Google. We saw a fetal medical specialist a few days later who confirmed the sonographers findings and also explained that there was a part of the brain that she couldn't see. She agreed that 13 or 18 were the most likely causes. We are now waiting for an amniocentesis this week after much soul searching about the risks. I'm not looking for people to tell me it's all going to be fine; so many severe defects do not make for a healthy, typically developing baby. I suppose my question really is, does anyone have any experience of these types of markers being caused by something else? The recently born baby of a close family member is about to begin genetic investigations for a possible chromosome disorder (unknown ) which may have come from either side if their family (I. E. not necessarily my family ) so the problems with our baby could be related. So many unknowns at the moment

Sorry to hear about your 20 week scan, we had similarly bad news at ours, diaphragmatic hernia and then complex heart defect and small vermis (part of the brain) They thought it was likely to be chromosomal but not t13 or 18 but actually dd has t18 (now 35 weeks pregnant).

Have you seen genetics? We asked to see them pre amino and they were really good although basically said with soft markers only amnio would tell us. I well remember the waiting post amnio hoping for some chromosome issue that at least wasn't 'lethal'. I hoped for t21 or just something unusual.

Good luck with your amnio, mine really wasn't as bad as I'd feared and at least t18 and 13 are ruled in or out quickly. Have you spoken to Arc? They are supposed to be very good.

Thanks so much for your reply, it helps to know there are others out there in the same boat. We haven't seen anyone from genetics yet, we want to go down that road after we have the amnio results so we can think about the future too. It sounds awful to say that though. I can’t decide what I'm hoping for from the amnio results really, 13 or 18 seem like the worst case scenario for our baby so I'm mostly praying it's not them although they would be a better option than something genetic for the future. I never thought I'd find myself hoping for a baby with downs but that, or something unusual but not so serious seem the best hope at the moment. Right now it seems hard to imagine being 35 weeks, how have you coped? Sorry if that's a stupid question or private. Have you been able to plan at all? Not spoken to arc as yet, may get in touch with them post results.

Honestly, it's been hard, it still is. We live with the risk of stillbirth everyday. We seem to be constantly in the hospital for monitoring. some days it just feels totally normal and surreal and others, it really hits me.

After we got the T18 diagnosis I had no hope of her being born alive, we focused on a stillbirth plan and it took a while before we focused at all on livebirth, we found that T18 has better survival rates than we expected and that treatment improves survival, possibly to 25% to a year and DD's presentation while not the best (she has a very unusual heart) was not the worst . We spent a lot of the pregnancy fighting for treatment for her but it has all been agreed now. However her chances of survival still are fairly dismal and we know that. It is very odd ringing undertakers and having discussions with cardiologists about surgery at the same time, knowing we may well never get to the surgery part. We have focused on enjoying the pregnancy, we read to her, we have brought clothes for each stage from prem baby stores, so if she was stillborn she'd have something and rejoiced when she grew out of each set. It is my first pregnancy after a long time trying and honestly I don't regret it. I wish she didn't have T18 but she always had it and there was nothing we could have done. The trisomy community is very supportive, but like you we didn't contact anyone pre diagnosis, infact not until several weeks later.

Of course most people with a T18 diagnosis opt for termination and I know there are a few people on this board who have been through that and are very supportive.

I really hope for the most positive outcome possible for you though. I hope you have lots of supportive people around you.

Snap! 4 years of trying for our first and now this. I try hard not to go down the 'it's not fair, why us?' road but it's so hard. Especially when it feels like we are surrounded by people having and bringing up babies. At the moment, I find it harder to see pregnant women than babies. I absolutely don't regret it either, of course I wish our baby was healthy and the pregnancy was straight forward but I'm definitely glad to have known our baby at all, for however short a time that happens to be. It's good to know that you have treatment agreed, I've read that some medical staff think there is only one outcome so are not keen.
We are lucky to have supportive family around us and I hope that you do too. Some days, i can carry on as normal and even feel ok ish and others it seems unbearable.
Please know that you, your precious girl and her daddy are in our thoughts.

I perhaps won't tell you the journey we have been on to get treatment! but if you end up with a T18/13 diagnosis (and I hope you don't) and want to pursue that route, very happy to share resources. We are the first in our hospital and (and judging by the second opinions we have had) one of the first in London to get agreement to treatment for a prenatal diagnosis of T18 and it has been a fight.

I know that 'why us' feeling, it is like everybody else seems to have healthy children. I sometimes do sit in the fetal medicine waiting room and wonder why people assume everything will go well. It took us 10 years of on and off trying to get DD, however I was even thinking the other day, I would still rather this than infertility. It is great to feel her move, to see her on the scans, to finally be the one who is pregnant.

When is your amnio? I hope you have time to rest after it, I didn't do anything for about 5 days! although when we researched it, the risks are a lot lower than quoted, the NHS risk is based on a study from 1986. Thinking of you too and hoping for good news or at least the best news possible.

Ok, I'll hold off thinking about treatment for now, I have a tendency to get ahead of myself. I keep telling myself to take it one step at a time and at the moment the focus is getting to Wednesday. Am trying to do as many housework type jobs as I can before then to make life easier for dh after!
I'm loving watching my bump grow and feeling movement. I suspect the movements are a lot less than they should be but I love them non the less. At least I know I can be pregnant although it's not much consolation at the moment.
Amnio is on Wed; I'm a teacher and not back at work until Monday so I'll be resting completely until then and know I could take more time off if I felt the need to. Because I was only going to be working for the first term before mat leave, my role is more supporting than responsibility for a class of my own. Hoping that work will provide a welcome distraction and normality but I can dip in and out if I need to. Do you work? Are they supportive?

Yes I've loved watching my bump grow, dd is little but I have a lot of water so it balances out. She also is very quiet, we started getting stronger movements about 32 weeks but now she has very quiet days like today when I can't feel her and some very active days. I have a sonicaid so listen in when I'm worried and now we go in for monitoring on quiet days which seems to be every other day.

I'm a midwife and they have been supportive in saying don't come back until afterwards. I'm glad that I have good sick pay. At the beginning I wanted to go back but when we got to the 5 appointments a week phase I was glad I wasn't.

Good luck for Wednesday. Impressed you are doing all the housework. I left it all to dh but to be fair he does it anyway though at the moment we just have a messy house and eat out a lot! Did you find out whether you're having a boy or girl? We hadn't planned to but did after diagnosis. It helped us to bond

A midwife? Ouch! I bet that's been 'interesting' along your 10 year journey! It's great that they are supportive although I imagine it will be difficult if/when you go back.
When we went for the 'normal ' 20 week scan, I was adamant that I didn't want to know whether we were having a boy or a girl. When we saw the consultant at the next scan, she couldn't tell us because of the position of the baby. We really want to know now - if I've learned anything from this it's not to be so set in how I think things should be! Hoping they can tell us tomorrow and if not, I think the amnio will tell us. I really think we are having a boy and keep referring to him and the boys name we have chosen. Dh is hoping for a girl so one of us will be right.
Hope that you are able to have a calm and peaceful day.

I lost (to a tfmr) dd2 in jan at 22 weeks to T18.

Similar story to yours, brain defect picked up at anomaly scan then specialist fetal medicine scan through up issue upon issue. Our dd was never going to be born alive. For various reasons we decided on a termination at 22+2.

It has been a devastating journey but then it's devastating whatever decision you make tbh.

I know disillusioned is very knowledgeable about care plans if you get a diagnosis and decide to continue with your pregnancy. I, on the other hand, am fairly knowledgeable about the termination process and am more than happy to answer any question about that route.

One thing I would say is that one decision might be good for one baby and family and a different decision right for another. You must make the decision that is right for you. The majority of people with a T13 or T18 diagnosis do terminate and therefore if you decided to continue you may face an initial assumption from medical professionals that you will terminate.

You should be able to get a fast track 48 hour diagnosis for T13 and T18 after the amnio. I really hope it's is 'good' news, although tbh it does sound very much like a trisomy.

Like I said, I'm more than happy to answer any questions either here or pm me.

Try to be gentle with yourself.

Hope I just read you're a teacher. I am too! It is a wonderful job for distractions but do make sure you are emotionally ok, it's not a job you can dip in and out of unfortunately.

I took half a term off (we got our diagnosis first week back after Christmas) and then did a phased return for half a term. My head has been brilliant. I didn't work the week of my due date, it was too much and I was covering 2 women both of whom were pregnant so pretty tough going.

Take the time you need, your head may be able to give it to you are compassionate or sick.

Hi Kitty and thanks for posting, it shouldn't help to know other people have experienced this ... but it does.
We are desperately hoping for negative results for T13 and 18 but on my heart of hearts I know that, if it isn't that, it's something equally serious. Am trying to go one step at a time and just see what tomorrow's scan and amnio brings but I'm a bit of a control freak and my brain keeps racing ahead.
We are as certain as we can be that we want to continue with the pregnancy whatever the results. However, if there's one thing I've learned it's that nothing is certainly going to be the way I thought it was so time will tell. At the moment it feels right to distract myself with work but I know that the need for time off will come at some point and I know that it won't be a problem which is something.
Part of me just wants it all to be over and back to normal and part of me wants to cling to our baby forever. I guess a new kind of normal will arrive eventually.
Were you back at school today or have you got a few more days before the treadmill begins?

It's good that you have an idea of your decision before your results. Hopefully they should be able to give you a decent scan and so some better idea of the difficulties your baby might have. Sounds like that would feed into a care plan.

We're back for inset Thursday/Friday then kids back on Monday so we've got a bit of time yet.

Op- just wanted to say good luck today, hope all goes smoothly. Get lots of rest after!

Thanks to you both for your support. At least something is happening.

Good luck today

Well it's fair to say that it didn't go to plan! Only a small pool of amniotic fluid and the baby wouldn't budge from the middle of it so they couldn't take fluid. She did put the needle in so the risks are still there. We are going back to try again next week. Found out a bit more about the kidneys and that doesn't look great. She couldn't see enough of the heart to comment and is referring us on to a cardiac specialist. And so the waiting continues.

Oh rubbish. Poor you. Fingers crossed they can get it done next time.

I know! I'm trying to decide whether it's a sign not to have it done but we really need to know what we are dealing with. Back to school for you tomorrow? It's looking like I'll be in for inset on Mon and Tues and then off when the kids actually turn up, having it done and resting after. If they can do it that is!

Sorry to hear that, all the risk and none of the benefit. Very frustrating. Rest anyway. We found Echo and cardiologist very helpful, where are you going for it? Sorry to hear the kidneys don't look good. I remember at that stage it seemed to be one piece of bad news after another. we just adjusted to one thing and another came up.

Hope you are doing okay or as okay as possible.

Yep, inset tmrw.

Have you had a detailed scan with a fetal medicine specialist? I'm just thinking, if you know you will continue with the pregnancy do you need to know the diagnosis if they can scan and give you an idea of the issues you might be facing? That's not a suggestion, just a question. I understand needing to know, I felt we needed to have a diagnosis. I guess I'm playing devils advocate and asking the question.

Have a good rest. Are your insets busy or a prep for the year type thing? Bit annoying missing the kids first days but you need to put you first.

Thanks to you both. We are seeing a cardiac specialist in Birmingham, apparently people are usually seen within a week although they know we are continuing with the pregnancy so there isn't quite the same urgency.
Kitty, your question is exactly what we have spent half the afternoon debating - is the information that we will gain worth the extra risk? We both feel that we need to know for the future of ourselves and our family whether we are dealing with a one off, bad luck trisomy or something genetic that could affect the future. We can only get that information from an amnio or a post mortem and I'd prefer not the post mortem option. So I think we are going to risk it again but if it can't be done next time then that's it. Or that's the theory at this particular moment in time!

I totally understand that. I know it's very early days, and we may not even be talking 'lethal' diagnosis. I know they can get genetic material from the placenta rather than post mortem so that's another option if things don't work second time round.

We decided against a post mortem. We had a clear diagnosis, we knew her abnormalities meant she wouldn't have survived so we didn't need to know any more. I felt very strongly about that.

We did get a detailed kyrotype from the amnio and so we knew after 6 weeks that neither my dh or I were carrying a translocated chromosome. It's helped with our decision about ttc again

Birmingham is supposed to be very good, they recently did heart surgery on a baby with T18, which isn't common. Hope appointment comes quickly, we ended up waiting over the May bank holiday weekend for ours but in the end it was very quick. We also had an MRI, don't know if they're considering that in your case but it was helpful for looking at brain development.

I know there is a lot of debate in trisomy groups about whether you should pursue diagnosis if it is strongly suspected and you want to continue as it is often used to deny treatment, personally I am glad we got a diagnosis, I don't think we would have been able to get the agreements we have or feel confident without it and also I couldn't have lived with the uncertainty of not knowing and not being sure what it was and if it was something that would recur.

It's the not knowing! At the moment, getting the diagnosis feels like the most important thing for peace of mind and planning for the future but whether it is remains to be seen.
No one has mentioned an Mri, the staff are brilliant and very supportive but I don't feel like we have had enough opportunity to talk to the doctor. It's been more of the doctor doing the scan and writing the report and the specialist midwife talking through options and what next. Perhaps need to push next time, it feels a bit like the doctor is avoiding talking to us until we have the test results. Or maybe I'm just being paranoid!

We've had the opposite experience, the midwives say nothing and we see the consultant every appointment, couldn't get better care privately. I think I would ask to see the consultant if you have things you want to ask though but depends how good your specialist midwife is. They don't seem to have them here, they seem to be more admin assistants for the doctors.