Agenesis of Septum Pellucidum

[newtontimes]

Hi all
I am new to mumsnet, have lurked for a while. I am 20 weeks pregnant and just had a diagnosis of absent septum pellucidum. It often comes with other anomalies and we are having further genetic tests and MRI to try to work out if we can get a fuller prognosis, but apparently it could also turn out to be an isolated anomaly. If it is, it seems noone really knows what that means for the baby. It could progress normally, or there is a 15% chance of an undiagnosed quite serious condition that will not become apparent until later.
I am really unsure of what to do if that is the case. The doctor just said it is one of the hardest ones that he has to deal with as it there is so little information to make a decision. We also have a geneticist but so far he is just reading the same papers we are and it seems like you reach a point where everyone is just guessing.
I wondered if there is anyone else out there who has faced this? I didn't realise that there could be uncertain diagnoses like this. For various personal reasons (eg we are older and this would be our only child, so they would be left alone), I don't want to bring a baby into the world who would face a lifelong intellectual disability (though I admire and respect people who do, and of course none of us know what our future holds), but to terminate a much-wanted baby who has such good hopes of a future also seems wrong.
I wondered if anyone else has faced this?

Hello, I have been searching online for people's experience of this as we are going through the same thing at the moment after our 20 week scan. I wanted to ask what happened after you posted if you don't mind sharing? We sadly had a termination for medical reasons for our previous pregnancy last year (although that was a different issue) and so we are bracing ourselves for the worst

No personal experience but Have you been told about ARC, Antenatal Results and Choices. They can offer you non- directive support and can be really helpful in these circumstances.

Thank you, yes I have and they are amazing. They were so helpful last year and have been speaking to them again this time x

hello so sorry to hear you are going through this too.

We had a lot of tests- amnio for infections etc, genetic, and 2 foetal MRIS which were able to say as much as possible that it was isolated ASP and not one of the (much worse) conditions that are linked. We had another MRI after birth (which was mainly to reassure us) and still had to have a check of his optic nerve a few weeks after birth (just the ophthalmologist having a look), and then we will have it checked again when he turns one. We also had glucose tests after birth for 24 hours, and have to have endocrine follow ups roughly annually throughout childhood, mainly monitoring growth. Apparently the latest our doc has seen problems come up is age 10. We were/ are not in the UK so not sure if it is the same there.

So far all has been well and he is a lovely baby, and meeting milestones so far touch wood. (I am super superstitious about this now!).

On the positive side, it seemed like the papers on ASP are generally working on older cases and it may be that with newer imaging they can be more confident that isolated ASP is really isolated, so the % with problems may be lower Than 15 nowadays - but of course can't say for sure. And of course no baby has a 0% chance of issues. Our neurologist spoke to an expert on ASP from Israel who said something like if it was her choice, based on what she knew about prognosis for isolate ASP, she would continue pregnancy. There is a paper which says it has been found a few times as an incidental finding in paediatric MRIs too. Recently my husband met a senior doctor who has it himself and is clearly fine! But I know there will of course be other people out there for whom this wasn't the case and it is a really hard decision of what is the best for you and your family.

It was/ is super stressful but counselling helped (which we still have every couple of months) and I'm able to be present in the moment much more now (newborn phase was really hard though).

I am not on mumsnet much but let me know if you want to PM/ chat some other way, and sorry again, it was the worst time of my life, and I can't imagine how it must be after a previous TMR as well.

Good luck with the investigations and your decision making, it really isn't easy at all.

Thank you so much for your detailed reply and sharing your story and I’m so pleased to hear that things so far have been going well. It must have been incredibly hard for you and also such tough choices to face along the way. It sounds like you had a very supportive medical team to help you with the decision process who have worked hard to give you all the information possible. It’s very encouraging to read your story and it had a lot of information that I didn’t know eg that imaging has improved now and they can give a clearer prognosis. I’ve had the amnio and awaiting those results, main trisomy’s were clear and waiting for the full array hopefully this week. Tuesday I have my MRI (had to wait until 22 weeks) and then a week later for those results. Can I ask how come you had the 2 MRIs, were they unable to get a clear image the first time? This is one of my worries as we are getting very close to the 24 week cut off and I really hope I have more information by then to be able to make an informed decision - not sure where you are based and what the laws are there and how many weeks it took for you to get the right information? The waiting is so hard as I’m sure you know, we had 2 months of it last time so I guess I will cope again this time too but doesn’t make it easier! Our consultant hasn’t given us much information yet on what we could be looking at as I guess there’s quite a few variables on outcomes depending on if they find anything. They also haven’t ruled out that it’s definitely absent either so there’s still that hope too but feels unlikely. Anyway, again I wanted to say I really appreciate you replying (this is actually the first time I’ve ever posted on mumsnet for anything!) and wishing you and your family all the best x

Hi again

The waiting is so so hard, but they did tell us it is worth it for the better images they will get. We were lucky to have a great medical team, I hope that you will get that too- it made a big difference. I felt like I had worried about so much that could go wrong but had never even heard of this. Actually we had already had a previous 20 week scan that saw everything but couldn't see the brain, so I wasn't even that worried going in to the second 20 week scan as everything else had been fine.

The first MRI produced really good images. The second was not until much later in the pregnancy, I think about 32 weeks or something like that. We were in Australia, I think that although they have the same cut off at 24 weeks, there is an exception for very severe issues if something new and very serious had come up then. But to be honest I think it was mainly for reassurance, and in any case I guess you could prepare to support a baby with low vision if it came up with optical nerve involvement. By 24 weeks we had made our decision, and then I just took each day as it came so didn't enquire too much around the reason for the second MRI to be honest so I can't say for sure what they were worried about or what we would have been able to do if anything, but I did appreciate the extra reassurance. We initially weren't going to have one as a baby but then I had really bad anxiety so we did end up having it in the end. They all showed the same thing, and the medical team had been pretty confident that they would.

All the best for your MRI and your decision making x

Just wanted to let you know that the MRI went well today and they were successful getting the images they needed, and we should get that report within the week. We also had the full microarray results through from the amino now and that was all clear so I'm feeling a bit more positive. At least things are progressing (last time we were really unlucky with tests failing etc so I'd been bracing myself for that) and so it's just a little bit more waiting to go and then we should have some answers. I've definitely been driving myself mad with the guessing and wondering but nearly there now. It sure takes the magic out of pregnancy doesn't it with all the anxiety!

Thanks for the update and that's great about the images and the clear microarray. Hope you get the report soon. Yeah it for sure sucks the joy out of it all!