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Gastroschisis & high NT - help & support please

9 replies

prayingforaxmasmiracle · 20/12/2021 14:01

Hi all,

I've joined on here to see if anyone can offer me any support or advice? I am mentally and emotionally exhausted off the past week and really need to see if anyone knows anything or had similar experiences.

I'm 29 and currently 12 weeks pregnant. I had a miscarriage when I was 20 years old so long time now so I've worried sick during this pregnancy. I had two early private scans at 6 weeks and 8 weeks to give me reassurance. Both were fine and completely perfect at both those stages with a great heartbeat!

Tuesday just gone, I had my 12 week dating scan which was an awful uncomfortable scan as they really struggled to get my measurements and baby just wasn't playing ball. The photos aren't great and I was just disappointed with the whole experience. Anyhow, because of the position they were concerned about a stomach defect so referred me to fetal medicine to see a specialist a few days later.

On the morning of Friday just gone, I then got a call to see I had a chance of increased Down's syndrome because the NT measurement was 3.5mm which is borderline however my bloods were fine.

When I got to the fetal medicine department they told me I've got a 1 in 57 chance due to measurements. They they confirmed the baby did have a stomach defect called gastroschisis but they are concerned about the swelling of the neck and there is a chromosome abnormality which is rare to have both. I signed up for a CSV however the baby was right in the way and I can't have the biopsy until Thursday and hopefully get results on xmas eve.

The consultant seemed really negative and also I've got Crohn's disease so was already a high risk pregnancy but I don't know if they have taken that into consideration as they kept referring to me as fit and healthy and I am physically but on paper I'm technically not so was concerned about they keep saying that about me. Could that have anything to do with the chromosomes?

I am so down and upset and really struggling with this, if anyone has any support or advice? It would be really welcoming. I don't know anyone my age out of friends or anyone close by who has experienced this and right now to me it's the worst pain.

All other parts of the baby have developed perfectly from the reports.

Hope someone can help me through this! X

OP posts:
LegoPandemic · 20/12/2021 14:03

Please ring Antenatal results and choices charity as they can help.
Thinking of you

prayingforaxmasmiracle · 20/12/2021 14:40

Thank you! I am on online chat with them now!

OP posts:
SherbertLemons · 20/12/2021 22:35

Didn't want to read and run. I had a 1:54 chance of downs. We had an amniocentesis and luckily everything was fine. Currently 19 weeks x

prayingforaxmasmiracle · 20/12/2021 22:38

@SherbertLemons that's amazing! So happy for you! I've got my CSV on a Thursday, so nervous and never wished time away so fast!

OP posts:
SherbertLemons · 20/12/2021 22:53

Thank you! Fingers crossed for you too x

allupsidedown · 20/12/2021 22:59

My little boy was diagnosed with gastric hiss's and I have Crohn's disease...seems a horrible coincidence. My little man had other issues too and we lost him. I hope you get a more positive outcome.

prayingforaxmasmiracle · 20/12/2021 23:09

@allupsidedown I'm so so sorry for your loss! Hope you don't mind me asking questions and if you don't want to answer, please don't feel the need to reply. Was it any way related the crohns and gastroschisis? I've read different things which contradict each other?

OP posts:
prayingforaxmasmiracle · 23/12/2021 13:56

Just keeping this thread updated incase anyone becomes in the same situation as me and looking for info and experiences like I have for the past couple of weeks.

I had the CSV today which I was quite nervous about the consultants and midwives we're fantastic and put me completely at ease.

The biopsy went well and for the first time in this pregnancy we got a clear photo and heard baby's heartbeat and it was just incredible.

I seen a different consultant today and he mentioned how he wasn't convinced baby had the stomach defect so need another more detailed scan in three weeks.

Get results from the biopsy tomorrow for main 3, fingerscrossed all is clear and if it just stomach defect we can deal with that next!

OP posts:
allupsidedown · 26/12/2021 09:26

[quote prayingforaxmasmiracle]@allupsidedown I'm so so sorry for your loss! Hope you don't mind me asking questions and if you don't want to answer, please don't feel the need to reply. Was it any way related the crohns and gastroschisis? I've read different things which contradict each other? [/quote]
They said they couldn't be sure. For later pregnancies I was put on higher dose of folic acid. I know my body doesn't always use nutrients very well and at other times in my life ive had to take supplements for b12, iron, folic acid, calcium etc.
It does make me wonder but I don't know for sure there is a link or just something very unfortunate.
Hope the scan results show things more clearly. It would be wonderful if things were perhaps not as bad as first thought.

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