waiting for results - possible brain development issues

[FlightofFancy]

Hi all,
Sorry we're all here... know there are no answers but just need to get this out.

Had NT scan yesterday, and had lovely 10 minutes when all looked fine, but nuchal fold was apparently high at 2.7, which combined with bloods gave me a DS risk of 1:50. However, they wanted scan checked by someone else, who spent ages focusing on head/brain. Another consultant was called in and checked, and said they thought the brain hadn't developed properly. holoencephaly?

Obviously distraught, but feeling was the only option would be termination. As I'm measuring 13+5 it was suggested I could go on the emergency list over the weekend as 14 weeks is the cut off for the surgical procedure.

However, had to have a second opinion scan today at Georges FMU, and consultant agreed there is some issue with brain development, but not as much as thought. So have had CVS and now waiting for results. He wasn't really prepared to commit an opinion on anything.

Either way, there's clearly something wrong - I'm now going to have to suffer a medical termination if that's the way it goes - and I have no idea what's going on.

Anyone else had brain development issues shown at scan?

[KittyandTeal]

I'm so sorry to hear what you're going through. It's such a hard time waiting for results and scans etc.

I had a tfmr at 22 weeks after dd2 was diagnosed with edwards. This would be similar to a medical termination so if you have any questions I'm more than happy to answer them.

If you miss the 14 week cut off for a surgical termination I would suggest pushing for results before 21 weeks as after that there is an added grim part of having to got to a fetal specialist centre to have an injection to stop the baby's heart before you are induced. Out of the whole process this is the part I found the hardest. The labour and birth were surprisingly ok.

[FlightofFancy]

Thanks Kitty, that's useful to know. The next decision is when the CVS results come back this week, if they're clear it's another scan at 16 weeks, so hopefully we'll have an answer then. It's the not being able to do anything practical about it I'm finding so hard.
I've got to go into the ante natal ward this morning for anti -d, which is a nice extra touch...

[KittyandTeal]

Oh poor you. The waiting and not being able to do anything is the hardest part.

Have they referred you to a fetal medicine specialist? We had our scan at kings and they could pick up loads more than at our local hospital.

[FlightofFancy]

Yes, second ever so slightly more positive scan was at fetal medicine unit at St Georges, so pretty expert hopefully. not great bedside manner though!

[KittyandTeal]

It's good that you're being seen by specialists. Not great that they're lacking in bedside manner.

I found ours were very straight and a bit blunt with us. Didn't flinch at the floods of tears from both of us but we're pretty sensitive at the same time. I appreciated the straight forward manner.

[FlightofFancy]

So, have got the all clear on CVS for the big 3, which is a little bit of a relief. However, because of the abnormal brain development seen on the scan, there's still potentially a problem. So, waiting now for the full results from the CGH array to see if it's a rarer genetic problem.

Next step is a detailed cardiac scan next week, possibly with a further look at brain development. That'll be fun then.

Feels like the CVS should be a relief, but really it's just extending the horrible waiting period and not knowing what we're doing.

This sounds silly, but also worried that everything will come back clear and it'll turn out to be something really rare/not testable and we'll still end up with problems and a horrible, horrible experience in 5 months time...

[KittyandTeal]

Great news that they've ruled out the trisomies.

My friends had a 'serious' brain defect picked up on their first baby at 20 week scan. They had an mri a bit later on and were told that it would probably result in gross motor skill issues, delayed language and learning difficulties.

She is now and happy and healthy almost 4yo who has hit all her milestones apart from walking a little late (18mo)

I know it might sound glib but at least they've ruled out all the 'incompatible with life' defects.

Fingers crossed for the next scan x

[wasabipeas]

Hi OP,
I've just been something very similar. Sadly, we didn't have a happy ending at 18 weeks, but just wanted to say that I was able to have a surgical termination at Chelsea and Westminster, under Dr Stafford.
They initially told me I was past the limit, but I asked them to check again, and they were happy to offer me the procedure, so please don't feel rushed into any decision based on that.

It might also be worth considering getting a second opinion at the Fetal Medicine Centre. Their scan is £150, which included 2 doctors scanning me, and then a second opinion from the world-renowned Prof Nicolades.
Keeping everything crossed for you, please feel free to PM me if it is at all helpful...

[JellyCurls]

Hi OP. Didn't want to read and run. We were told at our 20 week scan that babies brain hadn't develped. Her cerebellum was fused and misshapen and other bits were missing and baby had spinal problems. All genetics came back clear.

We decided to progress with pregnancy and DD is now 8. She has some physical and emotional difficulties but copes very well. She is in mainstream schooling and in top groups for maths and English.

Just wanted to share a positive story for you. Hope you are doing ok xx

[FlightofFancy]

Hi both,
Thanks for your stories.
We're still in limbo waiting for the full array CGH tests results back. We had another scan at George's on Monday and the consultants there seem very good, it's just a bit too early to say. Plan now is waiting for test results then go from there. Consultant was concerned about short femur - but then has normal humerus so that might just mean short legs. Then concerned about small head measurements, but that's might just be because I have a small head (can happily wear 5 yr old DS hats!). Of more concern is all this added together plus the brain development. If tests don't answer question then next step is fetal MRI at 20 weeks...
Am not very good at waiting for anything, so this is particularly hard x

[wasabipeas]

Thinking of you, OP

I hope you've had some good news from your CGH results.

[FlightofFancy]

hi wasabi, thanks so much for thinking of me.

hope you don't mind, but your thread is one of the many I've read on this board in the last couple of weeks. so sorry to hear what you've been through - and I'm always so heartened by people like you and kitty supporting others by sharing experiences. virtual hugs if that's your kind of thing (I'm more of a virtual bracing pat on the back person). One thing that really resonated is when you said it would almost have been better to get a bad result on tests as it's a definitive answer.

In a small positive, we've had the all clear on the array cgh - so whatever it is, it's not chromosomal or genetic in cause. But of course, that doesn't mean it's not something. rereading my notes, their concerns are an open 4th ventricle and possible midline fusion.

Next step is scan with our local consultant (RSCH in Guildford, in case of use to anyone) next week, then 20 week scan at Georges. Not expecting any answers next week, and final decision may be after MRI post 20 weeks.

Sorry if I'm repeating myself - on app so can't see thread when I'm posting and helps to write it down.

of course, it's getting harder to hide pregnancy, as I really don't want to tell anyone irl except a few close friends who've had similar tough experiences. Could be really tricky by 20 weeks, though luckily I do seem to carry small. Also harder to disassociate from it all, as can feel movement (issues aside, it's a wriggler). typical that in normal situation I'd be delighted to feel it this early...

to anyone still reading my stream of consciousness...

[wasabipeas]

Still keeping everything crossed for you, and sending you back pats and womanly handshakes. Happy for your good news on the CGH results.

Completely know what you mean about the wriggling. I also found watching movement on the scans really hard, so had to ask them to turn the screen away from me (and not play the sound of the heartbeat).

Is a scan at the Fetal medicine centre an option for you? We found it worthwhile because the waits between the NHS scans seemed like an eternity.

[FlightofFancy]

We could manage FMC, but might save that option if we don't get answers at 20 weeks - they're really keen to see how development progress, which makes sense.

I've actually fed back to PALS at Georges as one sonographer, despite knowing the situation, carried on with the usual patter about "see its little hands.... aw, it looks like it's yawning" etc, while I screwed my eyes shut trying not to sob. which was nice....

[Wasabipeas]

Oh flight, that is just terrible. Can you brief your DH to be in charge of asking sonographers be quiet if it happens again?

Keeping everything crossed for you still

[homeaway]

Thinking of you this week, fingers crossed for you. Keep writing here if it helps.

[FlightofFancy]

So, we might have a little glimmer of positive news. I had another scan yesterday with the consultant at our local hospital. She redid all the measurements, which have now come up 'normal', so the short femur length has gone/grown, and the small head circumference the same. She did a really detailed top to toe scan, spending lots of time looking at the brain, and again was guardedly positive. While there are still a couple of slightly unusual things, she said that if she saw it for the first time now, she'd pass it as normal.

So, we still need to wait for the 20 weeks scan at the specialist unit, and probably a fetal MRI to make sure that this slow/odd development doesn't mean anything else, but for now, still pregnant.

It's interesting because the improved scanning technology (they'd just got a new scanner, so have got 3d pictures, which tbh I find a bit freaky) means they've picked this all up very early whereas if it hadn't come up at 12 weeks, there's a chance it may have gone away before 20 weeks and we'd never have known any different.

Anyway, we're still not getting too excited, and not telling most people (lucky I'm not really showing much), but only 2 and a bit weeks to wait until the next scan and can see what the specialist says...

[daluze]

Very glad to hear you had more positive news! Fingers crossed everything resolves by 20 weeks scan... I know what you mean regarding improved scanning - with my first DS, 12 weeks scan showed some heart issues (which can also be a marker for chromosomal abnormalities). We had clear CVS, but being geneticist myself I knew that it does not mean everything was fine, it does not test for everything. However, everything resolved by 20 weeks, and he is now perfectly healthy 2 year old. So if our 12 weeks scan wasn't so thorough, it would have spared us from a lot of worry... That said, during current pregnancy, I still chose to have a detailed scan at FMC.
I really hope you get reassurance in 2 weeks time. Sending you big hugs x

[TimeforaDietCoke]

So pleased your latest news is more positive. Hope the wait to 20 weeks isn't too unbearable

[KittyandTeal]

Oh that is positive news.

I know there are brain 'abnormalities' that are often picked up at 20 weeks scans that are not mentioned because they tend to develop out of them iyswim.

Our dd2 had brain abnormalities as part of her edwards (I know this is not what your baby has thank goodness) when they did her detailed scan they said some of the 'abnormalities' they found are common and not mentioned usually as they aren't a big deal. In our case it told a story of a trisomy but that was in addition to lots of other issues.

It sounds like these might be some of the things that they can still see but have deemed your babies brain as 'normal'.

Sorry if that's garbled and doesn't make sense. Sounds like it's really positive though x

[FlightofFancy]

Apologies in advance - this has turned into a massive post.

So, the latest update in our crazy rollercoaster journey. Had another scan with the specialist consultant at George’s yesterday and still don’t have a straight answer. It’s particularly hard because DH and I seem to have heard different things in the appointment – or come to different conclusions.

She agreed with the other consultant at our last appointment that the baby now ‘appears normal’. There’s a slight enlargement of one of the posterior horns of the lateral ventricle, but it’s just within the norm (9.6), so without the other issues wouldn’t be a red flag. There aren’t any other physical issues and all is within normal measurements.

However, where the local consultant was really positive that the array CGH came back negative, yesterday’s consultant seemed to dismiss this and said “there are lots of serious conditions that won’t be picked up by that test”. She was also really insistent that just because things look normal now, that doesn’t mean that the odd way they’ve developed hasn’t caused problems.

We’ve been booked in for a fetal MRI in two weeks, when I’ll be a day short of 23 weeks, and she’s said that there are things that may pick up that wouldn’t be shown on an ultrasound – and that some of those things could be serious eg cause major learning difficulties. But, she didn’t explain what those ‘things’ might be eg names of condition. I found it hard to quiz her on this while I was lying down being scanned with everyone talking over the top of me.

DH came out of all this with a relatively positive view point – that the scan appeared normal and that the MRI would give us further reassurance and just rule out a last few possibilities. This is pretty much what our local consultant said a couple of weeks ago.

However, I’ve understood it that there could still be serious problems picked up by the MRI and we could still be looking at the worst outcome. Doesn’t help that they keep proudly giving us pictures from each scan – which I really don’t want if it’s going to end badly. Then I feel shit for stuffing them at the bottom of a drawer (and DH shouted at me for screwing one up when I was particularly furious).

Anyway, had a massive row with DH about it last night, as I’m really angry that nobody seems to be prepared to give us a straight answer so we still can’t make a decision to ‘be pregnant’ or move on. It’s stupid little things that are driving me mad, like not being able to book a summer holiday as I don’t know if I’ll be limited to the UK or not. I still haven’t told most people (including my mum) that I’m pregnant as I couldn’t bear having to tell them if we have to terminate. DH’s helpful response was why don’t we just opt out and decide to terminate if I feel like that – but I don’t feel we’ve got enough information to make that decision.

So today I’ve cried down the phone to the specialist midwife in the hope that someone could talk me through whether I’m right or DH is right, or at least explain properly why the two consultants seem to disagree and which one is ‘right’. Of course, it turns out this can’t be done over the phone – so have another appointment next week, but it is with the head honcho of the FMU at Georges – Professor someone. I think we need to write down our list of questions, so we don’t get sidetracked. Anyone have any ideas what we should be asking and how to phrase it?

Sorry I’ve gone on so long – it really does help to write it all down.

[KittyandTeal]

Gosh how difficult for you. It must be really hard not having any clear or straight answers.

I'm afraid I dont have any experience of the medical side of things. I know if I was you I would also be thinking the worst, however, reading it from the outside it doesn't sound fairly positive (iyswim)

What are the problems with development the consultant was talking about? Just how your baby has developed differently to the majority of others or do they think there are extra issues they've not seen?

Termination is such a hard choice to make, everyone will make the decision for their own reasons and reasons that are right for them. I knew right away that it was the right choice for us and our baby, however, her condition was already incompatible with life so it was an 'easier' decision for us.

In relation to the scan pics. I understand how hard it must be having someone happily hand over pics at each scan while you're still unsure that your baby will survive.

Everyone is different but I will say, as someone on the other side, that I wish I had more scan pictures, I actually wish I had one of the scan that diagnosed her problems and one of her last scan. We weren't offered them, they obviously had other things more important to think about for her diagnostic scan and I imagine out of sensitivity they don't offer you a pic of your 'termination scan'. I may be very strange and like I say, everyone is different.

Can you ask your dh to take the pics when they're given to you, put them away and leave them for a while. If all is well with your baby wonderful and you can keep them or chuck them if they remind you of stressful time. If things don't go well, again you can make a decision about them afterwards but you will have them there if you end up being strange like me and wanting them :)

I found writing questions for consultants very helpful, it drove my dh mad but it was the only way I could be sure I had all the info I needed. Also write down the answers if you want to so you can refer back to them.

Sorry, mammoth reply x

[FlightofFancy]

Thanks Kitty, it means a lot to have your thoughts. This is the challenge, one consultant is just slightly cautious about the way the baby has developed, but ultimately seemed to feel that as long as it got to the same end point, that was less of an issue. The other seems to think the way it has developed may have caused issues or that there's something else wrong that just hasn't been found yet. guess it's just more wait and see - and write out that long list of questions.

[Justusemyname]

What a difficult time you have had .

Our problem wasn't anywhere near as traumatic as yours but I remember the initial feeling of knowing something was wrong before the sonographer said a word then the feeling of protectiveness and refusing amnios.


I really hope you get answers very soon.

[blacktreaclecat]

Not been in this situation but did have a tfmr so understand how hard things are.
ARC charity (antenatal results and choices) are amazing and would give you lots of support.
Thinking of you