Agenesis of the corpus callosum & Cyst on baby's brain (24 weeks pregnant).

[Lauracrazygirl]

Hello everyone,

I'm 24 weeks pregnant, at my 20 weeks scan fluid was found in babys brain. After various scans, MRI and blood tests, we were told the fluid in a cyst that is putting pressure on baby's brain and that baby is missing the "corpus callosum" part of the brain.

I created this thread in the hope that I might come across other mothers who have gone through this or something similar. If not, I will keep updating my thread and maybe my experience can be helpful to others.

So today, I had a amniocentesis test (where they put a needle into my tummy to take some fluid from around baby to see his chromosomes) that could give me a better picture of what baby is dealing with. I am also waiting for an appointment with a neurologist who is currently looking over all of my scans. Hopefully he can offer some idea of what baby's developmental state could be.

I have researched both brain abnormalities (I know I shouldn't) and both look like they could have a terrible impact on baby's quality of life. What I'm finding most frustrating about this whole experience is that doctors seem unable to give me any idea of what baby's quality of life / development state and there is no guarantee that any medical professional can say for sure how baby might be after birth.

I am starting to get the terrible feeling that this pregnancy may end with a medical termination.
Which is heartbreaking.... this is my first pregnancy and I have wanted a baby for years, I cant think of a termination without crying even though I know it might be the most compassionate thing to do.

Any advice/kind words would be greatly appreciated. I hate this whole situation, it's just feels so unfair

@Nanmumandmidwife

Thank you very much for your response, I do understand that the brain is still very much a mystery to the medical wotld and it wouldn't be fair of the doctors to give me false hope.

I'll get the results of my Amniocentesis test on Tuesday for the big 3 syndromes (Downs, Edward's Patau's) that will help me come to a decision about continuing the pregnancy.

If the test comes back and baby doesn't have any of those syndromes, I would feel more confident about carrying on with the pregnancy. But regardless I would still want to speak to the neurologist before I make a final decision.

I'll keep this thread updated, so others can read my experience and maybe it can help others.

I want to give baby every chance but I also need to consider baby and my family future.

I'm so sorry to hear you're going through this. I have a friend whose baby also had agenesis of the corpus callosum identified at their 20 week scan. She went to a meeting of parents and their children who had been born with it and said that the range of impact was very broad, from unnoticeable to severe. As it turned out, when her dd was born, she was at the unnoticeable end of the spectrum and there has been no change to that. She and her DH went through an agonising time though. As for me, I chose to have a TFMR following identification of severe neural tube defects in my second pregnancy; it was the hardest thing I've ever done and even though I know it was the right thing to do, both for my baby and DD1, I so wish I hadn't had to make that decision. I don't have any advice to give, but I wanted you to know you're not alone xx

@shinyblackdog

Thanks so much for your response, my mum (who is a nurse) has explained Agenesis of corpus callosum in a bit more detail and like you said, it's on a spectrum. Also I'm really sorry about your second baby and I'm grateful you shared that because it's comforting to hear that from another woman.

My mum also said that the reason you shouldn't Google stuff is because often it's the worse cases of a condition that appear online not the mild or medium cases.
So I feel a little better..perhaps not better exactly, I have a more balanced view of things now.

A little update, I contacted my GP about my situation and he arranged a 2 week sick line which is a huge relief because I've had to take a lot of time off work.

Update

Apologies for using the thread almost like a person diary.

But I've got results from my amniocentesis test. The doctor has confirmed that my baby had been cleared of Down's, Edward's and Patau's syndromes. So those chromosome are normal, we will receive a fully report on the state of all the other chromosomes next week but these early results are very encouraging.

I am really relieved! Even though we still have the cyst and corpus callosum situation to deal with, I feel much better knowing that baby doesn't have one of the big 3 syndromes.

So the next step is meeting with the neurologist, who can hopefully give me a better idea of how this cyst and corpus callosum is/could effect baby and what treatment/support baby may need.

I am feeling much better about carrying on the pregnancy. I honestly don't care if Baby has developmental issues or educational needs. I'd rather have a baby who needs a little extra care than no baby at all.

Sending

I've just read your thread. I hope you get some positive news with the neurologist. DD1 has a brain malformation. It has a long name which basically means 'everything is a bit squiffy'. She's a wonderful girl. She goes to Special School.

Thanks for your update OP; I'll be thinking of you, let us know how it goes with the neurologist.

Hope the neurologist has good news for you. I have a 6 year old who has brain abnormalities. It's very difficult to predict how brain abnormalities will affect a child at this early stage.

@Lalla525 @Lougle @shinyblackdog @elliejjtiny

Thank you all for such kind messages,

I am meeting the neurologist on Friday, who has reviewed my MRI scans from last week. The cyst is the biggest concern for me, as it is putting pressure on baby's brain.

Some questions I would like the neurologist to answer, ( I've got lots)
What treatment will baby need in order to drain this cyst?
How long after baby's birth will treatment start?
To the best of your knowledge, can you give me an idea of babys developmental state?

I know that the neurologist won't be able to give me definite answers to these questions as @elliejjtiny pointed out, brain abnormalities are really hard to predict. But at this stage I really dont care what he tells me, as long as baby's life isn't in danger, I am prepared to bring him/her into the world and care for baby in whatever way baby needs.

I would just like to give a shout out to Queen Elizabeth hospital (Glasgow,). They have been amazing and really quick to get my appointments close together

Really hope you get good news OP

Hello again everyone,

So I saw the neurologist on Friday, it was a long, information heavy, 1 hour meeting so I wont go into alot on detail.

So the neurologist has come to the conclusion that baby's cyst and general situation can be classed as mild.

He doesn't believe baby needs any surgery after birth as the cyst is too small to justify surgery. As for the corpus callosum he feels that there is little evidence of baby's quality of life being seriously affected.

He was able to explain to me that cysts are quite common for babies in the womb and indeed adults. He said that people can walk around with cysts in their brain without knowing.

He explained that if Baby had any other abnormalities in the brain, body or chromosomes he would be more concerned about baby's welfare but as baby doesnt, he is happy to class this as a mild concern.

The next step now is just normal observation. We will keep an eye on the cyst to see if it gets any bigger. It would have to get alot bigger for the neurologist to consider surgery. If the cyst stays the same then we can just ignore it.

Of course there are no absolute guarantees in life and we won't know how baby will be until he/she is here. But that said.....
I am delighted and relieved.
I can finally enjoy my pregnancy again and carry on making plans.

Thank you for all your lovely messages.
I hope this thread might be useful to other mothers. If anything else comes up I'll update this thread but if you dont hear from me just assume baby is here and everything is fine.

What wonderful news 🤗

That's great, what a huge relief for you.

Glad to hear everything looks good and enjoy the rest of your pregnancy! If you're interested, you might want to look up an YouTuber called AcaciaCutie (Acacia Kersey). Her second daughter also has agenesis of the corpus callosum and she uploaded many touching videos of their experience. It was also discovered around 24 weeks. It's such an unusual diagnosis so that's why the thread title jumped out. Their little girl is gorgeous and the family appear so happy.

In the most recent update, her daughter was diagnosed with Alagille's Syndrome, however this is incredibly rare so it's obviously unlikely to be the cause of all cases of corpus callosum agenesis.

Hi I have just come across your thread and I feel your pain too.

I am 24 weeks and on my 20weeks scan I was told baby had fluid on his brain. I have had numerous scans and an MRI which confirms complete agenesis of the corpus callosum and the right side of his brain hasn’t developed as well as they had hoped. I only found out over the phone so I am a little in the dark as to what the future holds for us.

It’s so upsetting and I totally know how you feel as I just keep getting told they aren’t aware of how severe this will be just that baby may have seizures and maybe severely disabled. It has absolutely broke my heart 💔.

I am due to see a brain specialist on Monday for a face to face consultation but was hoping to come across someone that had been through the same thing for some positive reassurance because the doctors just keep mentioning termination and I really don’t want to give up hope.

I’m glad your amniocentesis came back normal and I hope you get some positive news soon and baby develops well and strong. It’s such a dark world when the spectrum is so wide and nobody can actually put a label on how you baby’s life is going to pan out and staying strong and positive sometimes feels really hard but I if you ever want to talk feel free to message me x

Hi @jlhayesx how did you get on? Going through a very similar situation.

@sr198 Mri confirmed the ACC, and cortical dysplasia on the right side. I'm still not sure what will happen once baby is here but everyday is a blessing to feel him move and kick so I am just grateful for that. What will be will be. Hope your ok x

@jlhayesx
Happy to hear that.👍 Same here, my baby (due next month) is kicking and growing happily.
The cyst in his brain hasn't grown any bigger which is good. So doctors are still saying we can ignore the cyst but just be aware baby will probably have some developmental delay.
I have the same attitude as you, if baby needs some extra care, medical or educational that's just I will provide, what will be will be.

Hi, hope you are well.
Just wanted to send a reply as reading your post was exactly like reading about my own experience only at 31 weeks (sept 2019). Dilated ventricles, cyst and absent corpus collusm. Sent for MRI and amniocentesis (which came back clear).

My son came at 35 weeks due to pre eclampsia, the hospital had doctors on stand by and he was taken straight to baby unit (some of this obvs due to him being early but also because they don’t know what to expect with problems with the brain).
At 8 days old he stopped breathing and was put on a ventilator (there is no evidence that this was due to his brain more the fact he was premature) whilst in hospital they did an MRI on him which basically didn’t tell them anything they didn’t already know and said his brain was slightly immature.
Fast forward 5 months he is slightly behind with holding his head up but he is smiling and interacting with people and things around him. We did have an MRI booked for a few days time which had to be cancelled due to the pandemic and we also are meant to have a apt with the development team in our area. We have had 2 appt with neurosurgeon since son was born and the health visitor comes out every 2 weeks to measure his head circumference to make sure it is growing as it should and doesn’t begin to grow too quickly which would be a concern.

We were told to begin with he was vulnerable for needing an operation but our last appt we were told he was ‘quite chill about it’.

Lots of people keeping an eye on our son and although overwhelming at time’s its good to know they are watching him.

Hope this helps in some way, any questions if I can help I will. X

@emed52

Thanks so much for you detailed response, my goodness your labour and pregnancy were certainly eventful to say the least, well done for getting through it all.💐

It's very comforting to hear that your son is doing well. I have to say the medical professionals around me have been very supportive as well.

The Fetal medicine department have been a little vague in regards to the possibility of my baby being scanned once he is here. They have said his case will be passed on to the children's hospital and whether he gets an MRI depends on his development or lack there of. My health vistor, midwife and GP all are aware of my situation and will communicate with the hospital.

I'm sorry yours appointments have been cancelled that must be really annoying. 😠

Writing this as a placeholder to listen to your stories, I found out a couple of days ago at my 20 week scan that baby has 2 cysts (one being large) on the baby’s brain and more fluid than it should near the big cyst.

I have been terribly distraught from the news and have another scan in 2 weeks 5 days (counting down the days!) to see whether the fluid has reduced and the cysts. They offered me the amnio test but I thought it would be best to wait to see whether things have reduced as the 1% chance of miscarriage has scared me.
I am 21 weeks tomorrow and feel baby kick/punch me quite often - it’s a lovely.

The consultant mentioned MRI being the next step depending on the outcome of the next scan and amnio.

He mentioned to be Down syndrome, Ed Dev needs, speech, etc. As being factors that may come from babies who have cysts/fluid but also said that majority of cases cysts tend to reduce therefore I am holding onto hope that they do.

I have a 6 and 10 year old so it’s really tough trying to plod on and be positive for them whilst we eagerly wait for our next scan.