Cyst like region posterior to cerebellum

[Bumblejuly2020]

This is my first pregnancy and went for my 20 week anomaly scan yesterday and was told there was an abnormal region in their posterior fossa. We where sent to see a fetal medicine consultant who explained that everything else was normal but there was a region of abnormality posterior to the cerebellum. She explained that is was either a cyst pressing on the cerebellum or an area that hasn't developed. I am going to have an MRI in a couple of weeks and a review with a pediatric neurologist.
The consultant also explained there is a chance that if this is an area of the cerebellum which hasn't formed my baby could have a life limiting chromosome abnormality and has offered us an amniocentesis. I am worried about the risk of miscarriage but feel like I have to have it, to find out what the outcome is likely to be.
I am completely distraught, confused and terrified. I already love my baby more than I could ever imagine loving anyone and I don't know what to do. Does anyone have any experience with this and how it turned out?

So sorry to hear you’re going through this. Sometimes findings on ultrasound can be genuine, other times false alarms. In my current pregnancy (alongside complex investigations for chromosomal issues spanning months), it was thought that my baby had a heart defect at one stage. Referral to Foetal Cardiology ruled this as a false alarm.

In respect to amniocentesis, it is now strongly evidenced that the miscarriage risk is overstated as it doesn’t account for all relevant factors and research suggesting the risks is now very dated. I attach one of the articles that summarises this as I know it helped reassure me when I had the procedure myself.

Good luck and keep us updated! Wishing you all the best xx

bloomlife.com/preg-u/amniocentesis-risks-and-miscarriage/

Thank you for your reply and the reassurance about having a amniocentesis. I have booked in to have it on Friday. Xx

@Bumblejuly2020 Good luck with it all! I really hope everything goes well with the amniocentesis and MRI xx

@Bumblejuly2020 I hope you don't mind me asking, did the posterior fossa cyst turn out to be anything?

I have been told my baby at 14 weeks has the same. Plus a probable heart defect. They thought I had a trisomy issue too which is being tested.

It's hard to find many online issues around this sort of thing.

I hope you are ok and I sincerely hope it's turning out well for you. The waiting game is the hardest for me.
Xxxxx

@Kangaroo77 It's no problem asking how it turned out. It is REALLY hard to find information and what there is, is really confusing and doesn't really give any definite answers.

I had an amniocentesis which showed no trisomy's and a normal microarray. I just had an MRI on Tuesday and that showed that there is still a cystic mass, the report states that the cerebellar vermis is small and rotated which has led them to believe it is a Dandy walker malformation but they can't rule out it being a Blake's pouch cyst, the consultant told us it is really difficult to differentiate given the size of the area and ongoing development of the babies brain and so its likely we wont get a definite answer until some time after our baby is born. From the research I have done a Blake's pouch cyst is likely to have a good outcome (90% develop normally) and the Dandy walker malformation is more likely to result in developmental delays but seems to have a wide range of outcomes from normal to quite severely effected (with speech, motor and cognitive problems). I am going to meet with a paediatric neurologist who will hopefully be able to give more of an idea how this will affect our daughter and I will be having repeat ultrasounds and possibly another MRI.

I'm so sorry to hear you are going through this. When we first found out I was distraught for days, I found deciding to have the amniocentesis a really hard decision and the waiting was extremely difficult. Are you having an amniocentesis? When will you get the results? It was quite a relief when we found out that our daughter didn't have any genetic issues.

Although we still don't have answers I feel much better about everything now, even though it has only been a few weeks but I am still spending a lot of time trawling the internet for stories about people with similar problems and how it turned out but I haven't really found much.

I hope all the tests have positive results!
It would be great if you could update me on your journey.
xxx

@Bumblejuly2020 Oh I appreciate your reply so much. Thank you for taking the time to write it and share your journey so far.

You're absolutely right, the information around brain fluid/cysts is really scarce, there's hardly any forum stories and what you do find is either very medical or pretty grim. I too have been researching DW and Blake's pouch. It's so scary to continue with so many unknowns.

I had a CVS last Wednesday. The initial test results for T18/T13/T21 were clear, much to my surprise (I'd convinced myself it was Edwards). To compound my fear I also lost my first baby to T13 at 18 weeks, so my experience with risk and bleak prognosis' feels more heightened after that.

I have another fetal medicine scan next Tuesday and the full CVS results come back in just under 2 weeks. I feel so helpless and not knowing any answers is just dragging on, much as you described, it's been a fraught and tearful journey.

We're veering towards termination if it doesn't improve. Unfortunately we also have swollen kidneys and a potential heart defect which feels like 1-2 too many things on top. On the one hand we really want the best opportunity for the baby and us to have good quality of life, on the other I'm terrified of perhaps needing to make a decision to terminate with little clarity, what if the baby turns out fine? It's such a dilemma and heartache at the moment.

@Kangaroo77 Thank you for replying. That's good news that all the trisomy's have been ruled out. I struggled to see it as good news initially as it still left loads of questions but did rule out the worst case scenario which was a relief.
I cant imagine going through this in a future pregnancy, it must make it even more emotional.

It is so hard not knowing the answers and dealing with those questions is what I have spent the last couple of weeks coming to terms with.

Hopefully your next scan will provide more clarity about the other problems. Given how early you are in your pregnancy I would have thought it is very hard to be sure about kidney and heart problems. In fact I have read several case reports of Blake's pouch cysts completely regressing before birth and my understanding is that the anatomy in that region changes significantly around 18 weeks and before that having a cystic mass there can be normal.

The decision to terminate is heart breaking and so difficult. I am now 22 weeks and so am feeling lots of movement and the thought of terminating is almost too much to bear. Although if we had been told that there was multiple other problems and our child would have a poor quality of life or T18/T13, it was something I would have had to seriously consider. My husband and I have had a lot of difficult conversations about this and it is important to think about how you would feel and what you would want to do depending on what the tests show.

At the moment I am trying to be realistic but hopeful. A lot of the expectations I had for this pregnancy and my child's life feel in question and I think I have mourned for the life I thought they would have. However there I still have hope that they will have a long and fulfilling life and am starting to think about how I can support their development.

@Bumblejuly2020 So much of your last post resonates with me. At first I felt so much sorrow but with each new day I feel there is hope, even if it's tiny. I find I flit between positive and dread quite often, but I agree that there are definitely stories out there where cysts have significantly reduced or disappeared.

When are you seeing the specialists? You sound like you have reached a place of strength and acceptance. I don't know what this journey holds but it sure is nice to speak to someone in a similar place, it's really comforting. Keep me posted xxxxx

@Bumblejuly2020 Hello again, I just wanted to share what happened today. We had Trisomy 9 confirmed along with posterior Fossa cyst, hole in heart and other heart issues, swollen kidneys and a pelvis issue. Apparently most T9 babies miscarry before 12 weeks. It's extremely rare they progress in pregnancy and birth (although it does happen just not that often).

I feel emotionally drained after 2 weeks of waiting and not knowing plus 1.5 hrs scanning today and going through test results. I can't believe I'm terminating again tomorrow for medical reasons but I'm also obviously relieved to be drawing a line under things.

I wish you all the luck with your pregnancy and birth, take care and thanks for chatting xxxx

@Kangaroo77 Hello, thank you for updating me. I am so sorry you are going through such a tremendously difficult thing.
I hope that everything goes smoothly and you are able to find the strength to overcome this again.
My thought are with you!xxx

I thought that I would update this incase anyone in a similar situation find this in the future.

The rest of my pregnancy was uneventful she grew well and was born at 41+6 via c section after a failed induction and my blood pressure being to high.
As soon as she was born she was found to have a cleft palate (which is apparently really difficult/impossible to pick up antenatally). She wasn't able to latch and there was concerns about her blood suger because I was given labatolol when in labour. A few hours after her birth a midwife was looking after her while I was sleeping and it was noted that she was having apnoeas (stopping breathing) and going dusky, because of this she was transferred to the NICU. While in the NICU she continued having these apnoeas, which required stimulation to keep her breathing but no other intervention. She also had an NG tube placed to help her get enough food.
This continued for a few days and she was stable but not improving. She had an MRI, which showed the molar tooth sign. Essentially her cerebellar vermis and brainstem are malformed in a specific way the suggests she had Jouberts syndrome, which fits with her breathing problems and also raises other potential problems.
We met with a senior genticist who performed a whole exome analysis on my daughter, husband and I, he said that her MRI was classical of Jouberts but she didn't examine like a child with Jouberts as they almost always have a low muscle tone (are floppy) and our girl is not.
We were then transfered to a specialist children's hospital as she was still having frequent apnoea's and requiring stimulation she had a sleep study which showed she was having central apnoea's, meaning her drive to breath was not working properly and when she was falling asleep she would stop breathing. She was put on oxygen to treat this, which definatley helped but didn't solve the problem.
We had several other test including looking at her kidneys, liver, heart, eyes and testing for epilepsy, all of which were fine.
The genetic tests came back clear, although it could still be Jouberts and is a gene that hasn't yet been discovered that is causing it.
We spent 2 months in hospital while she was still having significant apnoea's and her doctors were trying to figure out how to treat her.
She was also NG fed and still is. I have been pumping breast milk and giving her a bottle but she doesn't have a normal suckle reflex and so isn't able to take the entire feed she need.
She came home on oxygen, with a pulse oximeter to measure her oxygen and we stimulate her when her Sat's drop too low.
She is having physio and is maybe a little behind in her milestones but not significantly. She is 7months old finding, her voice learning to sit up, almost rolling over, great on her tummy,eating purees and interested in the world around her.
She will be having her cleft surgery soon.
She is the light of my life and her little person chuckle is the best thing I have ever heard.
Sorry this is so long, it was very cathartic to write.

I'm not expecting you are reading this but how is your daughter doing?

@Olla85, my little girl is doing really well.
She still has apnoea's, stops breathing, that require us to stimulate her and is on oxygen and a Sat's monitor for this.
She is also still NG fed but is eating solids and is much less reliant on it.

She is developmentally behind but still progressing. She can roll in both directions, is almost sitting up, using her hands more and babbling away.

She is a very happy little girl and brings an enormous amount of joy into my life.