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Antenatal tests

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Original poster

Exomphalos and high nuchal result

19 replies

Hopefullxx · 10/12/2020 14:54

Hi everyone. I had my first scan today at 11+2 and was informed that the baby has a large exomphalos and also a higher than normal nuchal measurement, im sure they said it was around 3.5 /6. The midwife asked a doctor to come in and explain everything, he also scanned and said that he wasn't going to lie and say it isn't a major abnormality. I am so confused, heartbroken and don't know what to do. They carried out the normal 12 week test for screening ( I am in Scotland) and advised me to come back next week to discuss options. Next options is the harmony test and /or the CVS testing. I am so so upset, would love to hear from other people who have experienced this and may have any words of advice. Thankyou.

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fluffybunny86 · 11/12/2020 05:59

Hi @Hopefullxx Im so so sorry your having to go through this. We went through something very similar back in February so I couldn't read and run. Unfortunately we didn't have a good outcome and really hope yours is better. Here to talk if it helps.

At our dating scan we were told that our NT measurement was 12mm (at 12w+5) and baby had an exomphalos and also an abnormal cord with only two vessels. The consultant suspected Edwards syndrome based on this. Combined Risk came back with 1:2 for Down's and 1:5 for Edwards and Patau's. We attended the feotal medicine clinic for a CVS, which was recommended over the NIPT due to such high risk factors, but very sadly baby had died in the 48 hours from scan to seeing the consultant. We asked for karyotyping as this wasn't our first miscarriage and found out she had Turners syndrome.

Our thoughts are with you and please feel free to message. Sorry I didn't have better news for you.

Waggily · 11/12/2020 06:52

So sorry you’re going through this, I had a similar experience 3 years ago. NT of 7.5 and a very clear exomphalos at the 12 week scan. We chose to have a CVS (which was a bit uncomfortable but didn’t hurt) and found out our little boy had Edwards Syndrome. We decided the best thing for our family was to end the pregnancy.

My advice would be to see if your hospital has a specialist midwife who deals with issues like this. We saw a bereavement midwife before and after the termination (but she also helped people who had decided to continue the pregnancy) as I found it so helpful being able to talk to someone who wasn’t emotionally involved.

Original poster

Hopefullxx · 11/12/2020 07:16

Hello @fluffybunny86 Thankyou so much for your reply. I am so sorry you also had to go through this, it was so unexpected! ...I am sure noone expects it. I have an appointment next Friday and will request the CVS as this is one of my options which will give accurate results for any chromosomal issues. I have read so many positive stories about babies who have had only an exomphalos but equally as many sad stories where babies go on to have more complications from operations after birth and it's just so scary. I'm trying to take it one day at a time until we know exactly what we are dealing with but I wouldn't wish this on anyone. Xx

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Original poster

Hopefullxx · 11/12/2020 07:20

@Waggily thankyou for your reply. I am so sorry you too also had to go through this. I am going to request a CVS when I go for my appointment next week in the hope it will give clearer answers. It must have been such a tough decision and I think I would be in the same boat as you and feel it would be the best decision for us. I am also so scared at the thought of a termination? It sounds so awful and worse the further along you are I am 11+3 today and just wish we had more time! I hope you don't mind me asking but was this your first baby? And how old you were? I have just turned 35 and we would really love a baby but I'm not sure I could go through all this again if it came to that Xx

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Waggily · 11/12/2020 08:10

It was my second baby, which in a way made it a little bit easier. I chose to have a medical termination, which is essentially giving birth to your baby. It definitely helped that I’d been through that before and knew what to expect. I was offered a surgical termination though, as the baby was measuring small so this was still an option.

You don’t need to make any decisions now. There’s a charity called Arc that are really helpful. You can ring them and they help you think through your options www.arc-uk.org/.

Alice40p · 11/12/2020 21:40

Sorry to hear you are having to go through this too. I had a similar situation and the CVS confirmed Edward’s syndrome. Like PP we also opted for medical termination. Sorry, I don’t have positive story for you.

Original poster

Hopefullxx · 11/12/2020 22:07

@Alice40p thank you for sharing. I think we are preparing for the worst. Im praying for a miracle but I know the outcome is not likely to be a positive one so devastating for anyone that has had to deal with this, so sorry to hear this also happened to you xx

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fluffybunny86 · 20/12/2020 18:09

Hi @Hopefullxx still been thinking of you. How did your appointment go with the consultant? Hoping you have had some news

Original poster

Hopefullxx · 20/12/2020 18:19

Hello @fluffybunny86 thankyou so much for thinking of me. I am still no further forward sadly. The baby still had the exomphalos on Fridays scan and the results for my combined test haven't come back yet! Which is frustrating! I made an appointment for an amniocentesis for week 16 but just feel this is so far away ( I'm 13 weeks on Tuesday! So much uncertainty and a whole lot of worry! Xx

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Original poster

Hopefullxx · 21/12/2020 14:00

Hi ladies. So I called my midwife today and she said my combined test results were in. 1 in 550 for down syndrome and 1 in 3311. Now I really am so confused

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Original poster

Hopefullxx · 21/12/2020 14:01

That meant to read 1 in 3311 for.patau/Edwards combined

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fluffybunny86 · 22/12/2020 08:20

@Hopefullxx the combined risk scores are promising for the three syndromes the combined tests screen for. Are you still going ahead with the amnio to screen for other chromosomal abnormalities? Sorry your having to wait so long for any confirmation, hope you manage to relax a little although understand it will be difficult waiting

Original poster

Hopefullxx · 22/12/2020 09:19

@fluffybunny86 the results seem promising but in my head they still seem high in comparison to some people's results I've seen, in the tens of thousands! I still have my amnio booked for January. We have another appointment on the 6th January to see a consultant at the hospital ( this was more for me being high risk due to age,BMI and family history of high blood pressure) but I'm hoping they will be able to scan that day aswell! The exomphalos ,if it is as big as the first two consultants have made out, and not looked to improve ,is a big problem in itself 😔 never been so confused in all my life!

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EddyMerckx · 23/12/2020 17:29

I had a similar situation - exomphalos at the 12 week scan. We had a CVS pretty promptly thereafter, which was negative for Down's, Patau and Edwards, but a scan at 16 weeks showed that there was no longer a heartbeat. We went on to have a full karyotype, which didn't identify any recognisable genetic abnormality, but the fetal medicine consultant said that there probably was one, just not one that we know to look for (if you see what I mean).

I remember so vividly how difficult and confusing those weeks were, although in the end we never had to make a decision.

I hope things work out better for you. Take care of yourself.

Original poster

Hopefullxx · 23/12/2020 18:10

@EddyMerckx thankyou for your message. I am so sorry to hear that your little baby didn't make it.
I think this is what makes it harder is that at the moment the decision is very much ours on what to do next ,I just wish someone would tell us what's for the best or that it's all going to be okay. This is my first pregnancy,I was so excited but have never experienced a level of emotion and stress like this before in my life! I'm trying to stay hopeful and positive but it's very very difficult in the circumstances.

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fluffybunny86 · 14/01/2021 15:55

Hi @Hopefullxx

Was just wondering how you are doing? How did your consultant appointment go last week. Our thoughts are with you.

Original poster

Hopefullxx · 14/01/2021 16:01

Aw @fluffybunny86 thankyou so much for thinking about me! I had the amnio done on Tuesday so initial test for down/Edward/patau syndrome all came back negative which is great news! They seem to think there are no other indicators on the baby that anything isn't developing as normal which is also good news! My consultant is contacting fetal medicine to find out when they want to see us - they have advised it may not be until 20 week scan when baby is bigger and easier to assess ,seems like such a long time when im 16 weeks right now lol but time has been flying in!! Still need to wait around two weeks for the rest of the amnio to come back but fingers crossed that will all be clear aswell! Xx

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fluffybunny86 · 14/01/2021 16:19

@Hopefullxx
Thats great inital news, fingers crossed for the other results for you. Hope the next four weeks are not too stressful for you although I understand your high levels of anxiety.

Original poster

Hopefullxx · 14/01/2021 17:16

Thankyou @fluffybunny86 I am trying to keep positive but with a little bit of caution aswell. Xx

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