Abnormal nuchal scan, cystic hygroma, and CVS

[Eliza_V]

Hi ladies

Just needed some support and advice really from people who've been through similar

Had nuchal scan 2 days ago (12w3d) and measurement was 3.6mm (cut off is 3.5mm in the UK) so we were referred for CVS 2 days later (today) to test for chromosomal abnormalities.

The scan prior to the CVS today showed it was a septated cystic hygroma rather than just thickening, so they started talking about how it's more likely to be a chromosomal problem (and we're talking about Turners syndrome a lot) and the test went ahead with little problems. The staff were really nice.

I will get the main results (for downs, Edwards, and Pataus) on Monday; then the rest (including Turners) within two weeks after that; then a heart scan about 19 weeks; then a scan for other physical anomalies.

Not sure exactly what I'm after, mostly for someone to talk to. The 'mummy' group I was in until very recently was a great support until I felt bullied out of it by a select few people, so I didn't feel safe talking in there any more despite the others being lovely, so I have lost a big support network I had. I can't really talk to my family as they're not really that supportive. I'm also suffering with hyperemesis which has had me in hospital, and have my daughter's health problems to contend with as well, and I'm finishing up a heavy masters course. My husband is trying to help, but is a little emotionally unavailable and isn't really sure how to cope with his thoughts.

Thanks and sorry for the rambling xxxx

 

[Talia12]

I'm so sorry this is all happening to you. You're amazing for coping. I don't know hardly anything about chromosomal abnormalities of this type so I can't offer you any advice but I really hope you get some good news soon. You won't get bullied off the bnb forums for sure! Hugs.

 

[Eliza_V]

Thank you Talia12. the sad thing is a lot of us met on BnB and gravitated to FB, I miss the majority of them as they were really nice but I just couldn't stay with those few in there still

I hope things improve soon too. I'm so exhausted and just feel absolutely spent. Xx

 

[Bonnie11]

Eliza have you looked into teh Harmony test? It's conclusive and is done with just a blood test. You do have to pay for it though. I'm sorry you are having to go through this. You need people to talk to, in real life. Can you try and make your family see how you are feeling? I know men do try to shut down and it's very frustrating. Did you and your husband talk about 'what if?' before your scan? It's not a decision that's easy to make, especially the sitting and waiting. And are you on medication for your hyperemesis?

 

[Jcliff]

I agree with the harmony test. I did this and only had to pay $100. So glad I did it, now I'm at ease knowing baby is a boy and healthy

 

[WackyMumof2]

I'm sorry this is happening to you. I'm trying to find out that kind of information for NZ so I could give you some kind of positive news but we are assessed out of 300 so I don't know what this means. I was looking for the measurement guide. I know it's not a huge help but try not to worry about what could be going on until you know for sure. Too much stress and worry although a natural emotion is not good in pregnancy. I'm hoping that because you are JUST outside the normal range that they are just being extra careful and I've got my fingers crossed that they give you the news that baby is okay. What ever will be will be and if you are strong enough to take this news now, I know you will be okay with what ever your result come back with.

 

[nordicpixie83]

I just wanted to send hugs and love

 

[red_head]

Hey I'm so sorry for all you are going through. I know that a family member recently had a scan with the exact same measurement - they were very upset and had to wait for the two week result - they had actually made the difficult decision about what they would do, but thankfully they've been given the all clear now. So it can be completely fine. She said she felt like she was drowning, and she wasn't contending with the other things you have going on.
I don't want to get your hopes up, as obviously the doctors are concerned, but it might be okay. You are doing amazing things and you'll get through this x

 

[Eliza_V]

Thanks everyone xxx

We were advised against getting the private blood test by the screening midwife as she said it still isn't a definite yes/no 100%, and advised of that what we are after then to go for the CVS or wait for an Amnio. Plus it's hundreds of pounds and we can't afford it right now

We did tell family in the end (even though they're all about 200 miles away scattered around the country) so we could put feelers out on who may be able to watch our 6 year old for a couple of days if I have to make that difficult decision... it's labour induction after 12 weeks over here so could take a while.

DH and I talked a bit, hut not much. We've been struggling with intimacy (physical and emotional) so he doesn't express much. It's just coming out in anger andnhes snapping at our daughter or bashing things around (because it was obviously the mops fault it was in his way, not the fact he left it there) though he finally had a cry yesterday. I, on the other hand, haven't. I just feel exhausted and numb.

Someone was supposed to ring me yesterday with the preliminary results, but never did I called this morning and asked why, the receptionist said she'd call the doctor straight away and get it sorted. That was 4.5 hours ago... I'm not hopeful

Xxx

 

[Eliza_V]

I don't believe it! They called as I posted!!

Good news: preliminary results came back clear for Downs, Edwards, & Patau's!

Whilst this is really good news, it's only just another hurdle cleared - we've still got to wait for the results of the CGH array (to check for other abnormalities on the rest of the chromosomes); we've still got have scans to assess baby's heart (as the cystic hygroma can suggest potential heart defects); we've still got to check for no other physical abnormalities in organs/muscles/bones/Brain etc (as cystic hygroma can also point to these); and even if they're all clear the hygroma itself can cause problems if it grows and causes baby to take on fluid - we are hoping none of those things happen and the hygroma clears up on its own (which can happen about 10% of the time).

And, in other news... It's a little boy 💙

 

[Talia12]

So so happy for you on the syndrome news and that it's a little boy! Really hoping you get more good news to come

 

[Bittersweet]

I hope your tests and scans give you good news. Congratulations on a baby boy xx