1:2 Downs risk at 13 weeks and cystic hygroma

[GingerRCD]

I'm 37 and had my dating scan at 13 weeks. My baby had a cystic hygroma around its neck (we were told the NT was 8mm, when the norm is 3.5mm and under) and my screening bloods came back with a 1:2 risk of Downs. I went for the CVS earlier this week at 13 weeks and 6 days but my placenta was not in the right position. So, I asked for NIPT (which I had yesterday) and have an amnio booked in at 15 weeks and 2 days.

The wait feels like an eternity. And I'm scouring the Internet to find things to help me hold onto hope that all will be OK. I miscarried my first baby and found out at the 13 week scan, then was so anxious when I was pregnant with my son during lockdown and had panic attacks before every scan. I just want a pregnancy where I feel blissfully ignorant.

Just wondered if any of you had success stories with similar odds/hygromas. I've got over a week to wait for the amnio and just feel I need some hope.

Thanks in advance xx

Hi, I’m sorry your going through this. I don’t have any experience yet but I’ve just had a total shock finding out I’m pregnant at 41. The stats are all quite scary at this age. I’m thinking of getting a NIPT at 10 weeks privately. I’ve heard that the NHS screening is quite inaccurate by comparison. Hopefully your NIPT results will come back with a more positive outlook.

Hi, I had a similar experience but the odds were different although I can’t recall them sorry.
I was booked in for a CVS and when I went it had disappeared and they wouldn’t do any further testing. It all turned out fine but I can remember the stress from that moment right through to when she was born. Every thought and conversation was dominated by it in our house and it was so very stressful.
I do hope everything turns out well and please try and look after yourself whilst you wait.I know personally I’ve never experienced anything like it before and being unable to get answers quickly or everything being out of my control really affected me. 💐

Sorry, when I say it had disappeared, I mean the cystic hygroma. Several people saw it on the original scan, one week later all was normal. They said had my scan been on a different day they may never have spotted it.

@heaven2013 congratulations on being pregnant! I have a friend who had a baby at 40 and she is a very happy little 22 month old now. I think the NHS stats scare us all about age but I was told by the specialist screening midwife that I'm still young despite what everything says and that this can happen to any woman - it's just so unlucky if the egg or sperm that does the fertilisation has dodgy chromosomes - we all have those eggs/sperm she told me and it just depends on the luck of the draw.

If it puts your mind at ease, definitely go for the tests as anxiety in pregnancy is not nice at all. You must also consider a private scan to get early reassurance. I'm sure all is well though and hope you have a good pregnancy journey x

@pennee thanks so much for letting me know your story. I'm so glad everything worked out well for you. I'm praying that the same thing happens to me. The consultant did say it was a possibility and I'm praying I'm one of the lucky ones. Do you mind me asking what your screening blood results said about your odds for downs etc? X

I can’t remember but it was something like 1: 6 and the NT about 4 or 5. I think the worst thing was they really painted a bad picture and then flipped their attitude. They were telling me to look at Downs, Edwards and Pateau at that time. Hopefully once you know more you can research if needed because I know what I did..googled the lot and worked myself up so much I made myself I’ll before my next appointment. I felt like no one understood either, horrible time. You’ll get through it and I’m keeping my fingers firmly crossed for you that it’s good news.

@pennee Thank you for your kind words. It really is the most horrible time. I have a bump now and it's all feeling very real - I just want so much for this little babe to he healthy and not have to face difficult decisions.

Bump - please let me know if anyone else has any success stories or words of wisdom xx

Hope you’re doing ok - I remember what a horrible time this is. My situation was slightly different to yours: NT was 4.1, I was 30 and our combined screening actually ended up being low risk, although that was pretty much ignored because of the cystic hygroma. We had an amnio and it came back clear, heart scan was fine too and by 20 weeks the hygroma was gone, although the nuchal fold was still slightly higher than normal. It was a difficult pregnancy but DS is 18 months now and absolutely fine.

I echo the advice to stay away from Google for now, but take a look at the Babycenter (US) cystic hygroma support forum if you haven’t already. Lots of success stories on there and some very helpful people.

I hope it all turns out ok for you x

@Rbrjc Thank you so much for your message. I do feel there is hope - that's the only thing getting me through this wait. It's horrible as it's just constantly ony mind and I'm finding it even harder now my body is changing shape. Google is definitely not my friend - forums like these help. Thank you x