20 week scan showed choroid plexus cyst - marker for Trisomy 18/ Edwards Syndrome

[suwoo]

Had the 20 week scan yesterday and got a bit of a shock. Baby has a choroid plexus cyst in his brain ventricle. This is one of the soft markers for Trisonomy 18/ Edwards Syndrome. The positives are that this is the only marker present and no other anomalies were present.
They told me the cut off age for this being 'an issue' is 32, I am 33. So the odds of him having Trisonomy 18 are 1/190 based on my age.

The hospital were keen for me to have an amnio and I have to go back next week to tell them my decision. We have decided not to have the amnio and to focus on the positives.

I found a few posts on this in the archives, but thought I would post my own. I will update this in August when he is born .

I think it sounds as if you're doing great - in your situation I wouldn't go for the amnio either. The link you put here is really interesting , it sounds as if it not a huge deal to worry about really. Looking forward to hearing more when your little one arrives in August. When's your due date? I have an august 16th girly and so many people were going on about how awful it is and how she'd struggle with school and stuff - well she's fine! This one is due in September and I'm secretly hoping he or she will come a bit early and arrive in August.

I'm due August 11th, but having a section sometime before that. It does concern me a bit about school as my other two are quite old in their year, but hey ho.

What (if anything) will they do when he is born? Will they have to take him away and 'inspect' him? Anyone know?

Suwoo, I wouldn't worry about it if I were you. Easier said than done I know! My DS showed a CPC in his brain as well at his 20-week scan and guess what, cos we already had a CVS and he knew he was chromosonally normal already, the sonographer didn't even make a big deal out of it and just pointed it out to me and say 'It will disappear!' DS is now 13 months old and cheeky as hell!

We you over 32 though Angel? They only make a fuss if you are, apparently.

My best friend (who was 37 at the time) had a similar experience. She had her 20 wks scan and it showed that the baby had a CPC. The hospital arranged for an amnio straight away, but she decided to get a second opinion and booked a scan with Dr Nicholaides at the fetal medicine centre in London and he told her that, as no other markers or anomalies were present, she should not worry and advised her not to have the amnio. Needless to say that the cyst did disappear and she gave birth to a beautiful healthy baby who is now 2 yrs old.

I was in the same situation about 5 yrs ago suwoo. I was 37 so the age thing was even more of a worry.

DS#2 was born with no problems.

Hope all goes well.

Yes, I am confident that we have made the right decision. We are just going to pretend they never told us . Do they do anything different at the birth though? I am having a cs.

No, nothing different at the birth.

I was a bit stressed about it but as soon as he was born the mw took one look and told me he was OK (apparently the hands can show differences if Downs is an issue). But I was still worried and a paed came and gave him the once over on the ward.

Cheers Orm. They checked his hands and feet thoroughly on the scan and said they were perfect .

We had this at our 20 week scan and also declined an amnio and all further tests.

The ante-batal helpline people were lovely when I rang.

suwoo - I was 31 when I have birth to DS so very close to borderline... FYI, my nuchal scan came back high risk (the NT measurement was 2.8mm) so my risk of having a baby with Down's was 1:63. I also had a slightly elevated level of one protein that indicated the foetus could have restricted growth. So lots of 'problematic' indicators in my pregnancy but a perfectly healthy son! Your attitude is great! I was a sniffling mess...

I had this too - I was 35 at the time. We were told to come back for a Consultant scan the next day. Googled it and spent all night crying and worrying but decided against an amnio.
Went back for the scan - consultant told us that there are other very obvious markers for Edwards Syndrome and that she could find none. She told us that the cysts were so small she wouldn;t have mentioned it herself and said the sonographer probably only said something because of my age.
She finally said 'go home and enjoy the rest of your pregnancy Mrs Iklboo'.
DS is 3.5 now, very happy, chatty.
PLEASE try not to worry. It is much more likely baby will be fine

I got told this too. That dd had a soft marker for Edward's syndrome. Luckily the nurse who scanned me forewarned me, she said that this comes up in a lot of women and yet she'd never known one of them to actually be an accurate diagnoses.

But it's scary when they take you into a room and explain it all to you! It's the last thing you need! I asked for a second scan at around 25wks and by then the marker was no longer present.

You know what, we're not worrying. The odds are very positive, so we are just trying to 'forget' about it.

They told us that there is no point having a second scan as the risk is already set and even if the cyst has gone, the odds will remain the same.

In our hospital the consultant told me that they had actually stopped informing parents about the CPCs because of the worry it caused when the were such very unclear indications of a trisomy problem. But there was one case where the hospital was sued because they didn't inform one couple and their baby had Downs. So they had gone back to telling everyone.

Hi again Suwoo. I was 38. Had my scan at the fetal medicine centre in Harley Street. They were fab. He spent so long looking for other signs (clawed hands, club feet, small head, heart defect, stomach problems) and could find nothing. The NHS consultant I saw at 28 weeks said it is now thought to be part of normal brain development, something that wouldn't even have been seen a few years ago when scan equipment was not so sophisticated, and he expected it to be gone if i had another scan. I did have another scan, it was gone and DS3 is just perfect.

It is a very scary time though. It may help, for peace of mind to have another scan later on. I didn't have an amnio. I reckoned it was so far into the pg that he was already so real nothing else mattered other than he was just my baby.

They won't scan me, and I don't know whether to pay for private? We are in Manchester, so a bit far to London.
They did tell me that had I have been younger than 33 they wouldn't have told me.

is saint mary's not a specialist foetal medicine centre? i know there is a foetal medicine clinic at teh hospital near me, ormskirk, and also there is liverpool womens'.

am sure you can pay privately at ormskirk for a scan with the foetal medicine consultant

Yes it is. Maybe we should have another scan? Registrar told us it made no difference if it had gone though

After mine I had another scan the following week.

I also had a scan a week later. CPCs had shrunk a lot but not disappeared.

Hi Suwoo, we also had this at our 20 week scan. Devastated at first due to the way it was presented to us, but we're now focusing on the baby and are hopeful that everything will turn out OK. Only about 10 weeks til due date, so we'll soon find out.
We were also told that we were only informed due to age, and that CPC would ordinarily disappear so no point in further scan.
We opted not to have amnio as risk of mc was higher than risk of ES.
We did have blood tests which set our risk at 1:10000 but who knows what these stats actually mean?

We did have another scan around 24 weeks and CPC had disappeared and everthing else looks OK, so fingers crossed baby is healthy.

Hope it works out for everyone. Hopefully we'll be providing happy updates in a few months. Best of luck.

Hi Suwoo,

We were told this at my 21 wk scan, and was scanned again at 25 weeks, and the cpc is gone. I talked at length to the consultant, and she said it is no longer an issue - once its gone, its gone.

Not sure why you have been given different info.

I would maybe get a second opinion and another scan if you can at all. Especially if its the only marker, it would be awful to have this hanging over you. You have a great attitude, but if it can be cleared up now, all the better.

I'm 31 weeks now, and the relief is great at hearing it was no longer a problem.
good luck xxx

The thing to remember is that 'soft marker' basically means weak and unproven possible co-incidence'.

2 'soft markers' for 3 different trisomies (inluding Edwards) were found at my 20 wk scan, and I nearly flipped. But then later (when amnio revealed no chromosomal conditions) I researched 'soft markers' and wished i hadn't had amnio.

As far as I can see the cysts that have been found are a) mostly harmless in themselves and b) present in many people in the population.

I know there is nothing like worry when you are pg, it's as hard as hard can be, and my fingers are crossed for you

It is so very tough. We are just waiting for amnio results having been told that we have 3 soft markers. We have the FISH results and I expect we'll get the rest by the end of this week.
Difficulty was that we had some pretty tough decisions to make this time last year when we had CVS following very bad nuchal results. This showed up chromosomal abnormalities. We had to give the baby every chance, but at 26 weeks realised that we really had little option as to what to do.
The amnio this time round was so much less painful, and seemed less intrusive and certainly didn't go near to the baby (quite a different case with the CVS), but it was something that we felt that we had to do.
Big difficulty for me is trying to avoid looking things up on the internet. Last time I got myself really distressed, and managed to achieve very little, so this time I have been really strict. Just got my fingers crossed now though.