Trisomy 13 and 18 soft markers found at scan

[wasabipeas]

Hi,
At my 12 week scan, the sonographer spotted two small cysts on the neck of the baby, so referred us to the fetal medicine unit. We had a 16 week scan with them yesterday where the consultant saw club feet, fused wrists ('club wrists) and a small chin. The baby is also measuring well below the 5th centile for the head and abdomen, with the femur and humerus just above the 5th centile.

We had a clear Harmony test at 13 weeks, but they did an amnio yesterday because they said the Harmony pick up rate for 13 and 18 is 'only' 95%. They've said that if the chromosonal tests come back clear, it is likely to be a genetic condition, although probably not one they can name, as there are too many markers for this to mean nothing.

Help! Has anyone else been in a similar position? The preliminary amnio result should be back on Friday or Monday, but we won't be seeing the consultant again for another 3 weeks

We're currently in bit of a similar position. We just had a 12 week scan at the FMC. I was categorized as high risk for Trisomy 18 and 13 because of the baby's heartbeat (very fast) and my blood results (very low Papp-a and high beta-Hcg). We had no other soft markers.

We also had our Harmony test results to fall back on. All three trisomies were low risk. We were told that the test is >99% accurate for Down's, around 99% accurate for T18 (Edward's), but 'only' 80% accurate for T13 (Patau).

Despite the clear Harmony, I am now deciding if I should have an amnio or not. Or if I should pay for a Panorama test, which is more accurate for T13.

I'm sorry I can't offer any constructive advice. I really hope it works out for you whatever happens.

I'm so sorry to hear you're going through this.

I have been through similar (although no harmony done)

It turned out my dd2 had T18. She had different soft markers though.

Saying that if it is not 13 or 18 it may be a survivable genetic condition.

I'll be thinking of you while you wait for your results. Have you been in contact with ARC? They have been fantastic with me.

I guess if your amnio comes back negative then the next questions will be about how the baby will be affected and what they can do after he or she is born.

Thanks both.
I had a long chat with ARC this morning and they were very good at talking me through what the different stages of testing are, but she was also quite open that we aren't going to get any good news with the soft markers we've got. It is going to be either chromosonal or genetic by the sounds of it. Otherwise healthy/normal babies don't have this many abnormalities

She also said that in some respects, it might be better if it is chromosomal, because the chances of it happening again are low. If it is genetic, it might mean pre-screening embryos, assuming they can even identify it.

Sorry to hear that. Arc are great at being straight talking. It does sound like your baby is very unwell.

They picked up a few soft markers at kings during our scan, hole in her heart, cysts on her brain etc.

We then realised whichever way it went we were looking at a very ill baby.

I kind of think we were 'lucky' in that our dd came back as having a trisomy that is incompatible with life. It made our decision a bit easier.

Have you been able to start thinking or has anyone spoken to you about your options?

Whatever happens it sounds like you are going to be having a really awful time.

I'm 4 weeks on from my tfmr. My world has changed and I am so unbelievably sad that we won't get to meet our second daughter. Saying that it has made me realise that I am stronger than I ever thought.

Please feel free to pm me if you feel it would help or you want a chat.

The arc forum is also great. They only give you access to the bits that are relevant to you (so I have access to the forum for mums who have had a termination for medical reasons)

Thanks kitty
I'm going to try and stick my head in the sand for another 24 hours until the test results come back but might PM you after that, if that is still ok?

Of course, my offer stands for whenever or if you feel you want to chat or ask questions.

Do whatever you need to to get through the next 24 hours.

We got bad news and lost our dd. Saying that I have to say that waiting for the test results was probably one of the hardest bits (we were expecting bad news anyway so it wasn't a shock to get our heads around when it came).

Somehow once you've got the results you can start doing things and taking a bit of control of it all. Waiting makes you feel very powerless.

I am happy to answer any questions you might have, including ones that might seem grim. If my experience can help anyone else it will actually make me feel a bit better (weirdly)

I'll be thinking of you and hoping for the best possible outcome x

Wasabi & Kittyandteal - You are both very brave and I am sorry that you have had these awful experiences. I had the same thing a year ago, although sometimes it seems like it was only yesterday. I just wanted to say that even though you are heartbroken by this devastating news it will get easier. The raw pain will become easier to cope with. It was our first pregnancy and we had had ivf and I just felt it was all so cruel and unjust.

I wish we never had to make the horrible decision to terminate but I still feel it was the right one given to painful life our child would have faced.

If youou wanna talk please message me or visit my blog www.www.wakeupsurvivesleep.com.
Will be thinking of you both x

The amnio has come back clear for trisomy 13 and 18 (and 21 but that wasn't really in the frame)
So now another week of waiting until the CGH Array test comes back, which will tell us if it is one of the common genetic conditions.
If it isn't, they haven't really said what the next step will be.
DRS thanks for the link to your blog. I'm going to have a read of it now...
Queenangst Are you still here? Have you decided what to do?

How do you feel about your results wasabipeas? I'm sure you want your full results back ASAP.

We're still as confused as ever. I'm hoping we'll have a better idea of our options after we meet the consultant next week.

Meanwhile, I've been googling 'foetal tachycardia' and 'very low Papp-a' and coming up with Trisomy 13. Really must step away from Google.

I want to say congratulations wasabi but I guess it's not really.

How are you feeling? Have they said you'll get clearer answers from the second set of amnio results? I'm not sure what they test for as we did get that far.

I'm guessing you will now be referred to a fetal expert who can scan you again and look at all the issues with your baby.

Have they definitely said they can see fused hands/wrists? I only ask because they though Rose had fused hands and at the last min (after over an hour of scanning) they saw her flex her hands.

I guess it's now a question of finding out if your babies problems are compatible with life and if so what can be done to help him or her.

I've been thinking of you both. It's an extraordinarily difficult time. I found the screening midwife at the hospital was a great person to talk to when I was worried or needed to vent. They're great at listening but know all the medical stuff so it doesn't need explaining.

I also had very low papp a (0.08) but apparently it's not that bad unless you also have low hcg levels.

I don't really know how I feel. Part of me feels like it is a bad result, because I wanted the decision to be made for us, so we can draw a line under this and move on. It was an IVF pregnancy, and we have 7 one-day embryos frozen, so we could assume they would be ok and we could have another go.

On the other hand, I'm allowing myself to believe there is a glimmer of hope that the fetal medicine consultant who scanned us was wrong, or the baby was just lying badly to be measured, and it was all be resolved. I am really trying not to think like that though.

They told us that they could clearly see the feet, and while they couldn't see the wrists, they could see lots of arm movement and it is all from the elbows and the wrists didn't move at all. But we've still got the small chin and jaw, plus the really small measurements for everything thing else, so I don't want to get up too much hope.

I suppose all we have to wait for now is that the CGH picks up something, and that way we know what the chances of it happening again are, and they can screen our other embryos.

One thing ARC told me was that if they can't identify it and we go to terminate, they'll push for me to have an induced termination, so they can do a post mortem, rather than letting me have the option of being knocked out for a surgical termination. Right now, I can't even begin to think how I would cope if I had to go through an actual birth.

kitty, I know it is something you amazingly and bravely did, but you sound like you're made of tougher stuff than me...

queen Have you had any more thoughts on the amnio? Keeping everything crossed for your consult next week.

Wasabi I'm definitely not made of tougher stuff than you, I just didn't have a choice.

If you do make the decision to terminate then you need to do it in the right way for you. We didn't really have a choice because I was past 21 weeks. If you feel a surgical procedure would be easier for you then don't be pressured. I am happy to answer any questions about medical induction.

If you have other embryos is it possible for them to be genetically screened before implantation? If so this may help your decision about how you deliver if you do have a termination.

The one thing I have learnt quickly is that no one can decide for you and that your decision might be right for you but not others.

I have a friend whose first DS has T13, she carried him to term and he survived a week. I understand her decision and she understands mine. We both made choices that were right for us.

kitty
They can only screen our embryos if they know what they are looking for. So they'll do as many tests as they can before we have to make the decision. If we get to a point where we don't want to carry on any more (and I think for me that will be 22 weeks), then we have the option of the post mortem, but only if we have the induction and therefore they have something to, well, examine. The centre where we had our IVF isn't listed on the HFEA website as one that can do the screening, so I think we'd have to move the embryos to another clinic for that part, but that seems a long way off at the moment.

We've made an appointment at the Fetal Medicine Centre for next week to give us a second opinion before we see our NHS consultant again. I don't know exactly what we are expecting. Possibly for him to see slightly more on the scan because the baby will be a week bigger, or maybe to tell us it hasn't grown in the last week. Who knows.

Until then, more waiting.

Ah I see. Lots of things to think about before making the decision.

Great idea about booking into the fetal medicine centre. We plan on going there if we're lucky enough to get pregnant.

I'm sure you are aware but as far as I know if you plan on going to 22 weeks before deciding on a termination it will be an injection at a specialist centre then back to you local hospital to be induced medically. I think they can possibly get some information from the placenta rather than a full post mortum.

I'm not sure any of that makes sense!

Thanks Kitty,
you've been really helpful. Thank you so much for sharing your experience, which I imagine must be very hard.

Keeping everything crossed that you get your pregnancy very soon

Thanks, we're holding off a while before trying again. Need a bit of time to heal and grieve.

Please feel free to pm me if you need a chat or want to ask anything.

It's a horridly hard time. I'll be thinking of you and hoping for good news

Just wanted to update on this, after our appointment with Prof. Nicolades today.

When we got to the clinic, we were scanned for about an hour by 2 other doctors, who were incredibly thorough and talked through everything they were looking at and looking for, and explaining things as they found them.

After looking at all the major organs and structures, they called the Prof in, who asked us why we were here and what we wanted to know.
We said we wanted to know if this pregnancy was at all viable, and if it wasn't, if this would cause problems for any future ones.

He then scanned me himself, and said pretty much straight away that this wasn't going to be a viable pregnancy, and showed us why. Plainly, our baby is paralysed, and if born, wouldn't be able to breathe

Pretty much straight away, he named the most likely syndrome (pena shokier) but after looking more closely at the brain, he thinks it is more likely that our baby had a brain haemorrhage or stroke, which has destroyed the cerebellum part of the brain. As that is the part of the brain that controls most other things, that has meant that all normal development has been disrupted, hence all the abnormalities.

We will now be looking at having a medical termination and being screened for pena shokier to see if it is likely to happen again.

The clinic, and the professor in particular were absolutely fantastic in their approach and diagnosis, but they did also say that we had all the classic trisomy 18 markers, so they can totally see why our consultant would have thought that's what it was when she scanned us.

Thanks everyone for your support on the thread.

Oh wasabi I'm so sorry. What devastating news.

I remember well being given the news that our dd2 wasn't viable. It was probably the same doc that gave you the news.

I'm glad you have a few answers. Sometimes the not knowing is harder.

If you have any questions about the termination and birth afterwards then please ask. If you are over 21 weeks it may well be the same doc you saw at Harley St doing it at Kings. Oddly enough I found it quite comforting that the doc that diagnosed Rose where also the ones who did the termination.

It's very early days but arc and sands are both great charities with active forums.

My thoughts are with you x

wasabi , what tragic news. I haven't been in your situation, so I can't offer any really helpful advice, but I have read the thread really hoping that things would be ok and I'm so sorry that they aren't. I hope that you have love and support around you to get through this.

Wasabi, in the middle of all the sadness I hope it's a little bit comforting to be getting some answers. Knowing what happened can't change the past, but I might help you face the future. I really do wish you all the best x

I'm so sorry that things have gone this way. You must be absolutely heartbroken but at least you got answers and now you can begin to come to terms with the situation. As I said before I had a termination at 21 weeks so I know how awful the whole experience is. It will be a challenging few months and then you will start to heal. Some babies are not destined for this world but they will remain in your heart always.
I am pregnant again and also had ivf and so while there is hope I still think about the baby we lost everyday.
You will get through it and have happier times.
Please feel free to contact me here or at www.wakeupsurvivesleep.com.
All the best x

Wasabi, I know you must be going through a hellish time atm, you might not be checking this thread but if you are I wanted to tell you that you have been in my thoughts and that I'm hoping that you are being treated gently and kindly. Xxx

Thanks everyone
I am booked in for Tuesday.
They offered me the option of a surgical termination or medical/induced miscarriage
We've decided to go for the surgical one. Being knocked out seems so much more bearable than having to go through a labour, which even with morphine and an epidural, the midwife warned me would be painful and could take up to 2 days.
It would also have taken place on the labour ward, and I just couldn't comprehend being around happy women taking home their babies.
The downside is that we won't get the postmortem and therefore a definitive answer as to whether it was a stroke or the syndrome, but they've put the chances of it happening again without a diagnosis at around 5% so I suppose the odds are in our favour.

Thanks again to everyone for the amazing support you've given me

Oh wasabi, what a difficult decision to have to make. I'm glad you've been given a choice though.

I'll be thinking of you on Tuesday, I hope it goes as well as possible.