High NT and exomphalos

[Alice40p]

Hi,
I was wondering if anyone else had this experience. I had my 12 weeks scan which came up with high NT of 7.8mm and the baby also had exomphalos. I had a CVS last week and waiting for my results. The combined blood test gave me 1 in 5 risk for Patau’s and Edward’s syndrome so I’m very scared! I had a MC earlier this year and was hoping everything will go well with this pregnancy!

Hi @Alice40p. 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 and baby had an exomphalos and also an abnormal cord with only two vessels. 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 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.

Hi @fluffybunny86 sorry to hear you had to go through the same !! It is horrible experience and makes me feel I have failed my baby. The doctor offered me tfmr on the spot but I wanted to make sure there was no hope before giving up. I had a CVS and am waiting for the results. The doctor gave me 6% chance of baby being normal!
I also had substantial bleeding after CVS but didn’t miscarry and the baby was fine when I went back to the hospital.
I’m preparing myself for bad news.
If you don’t mind me asking how did you cope with the loss? Did you have bleeding for a long time?
Thanks a lot for replying to my thread.

@Alice40p in some ways we were glad that the decision was taken out of our hands but like you I had to know for certain even after the scan showed no heartbeat. I can only imagine the wait must be unbearable. But no matter the results it is not your fault and that must always be in your mind even if your hearts saying differently.

It took me a long time but found that doing normal things, such as work, even though it was hard was best for me. My husband was amazing and we just supported each other doing daily tasks. Although I still find this difficult to discuss. I opted for surgical management as felt I couldnt face the other alternative but this was a personal choice. Had bleeding for 2-3 weeks and then spotting for another week. For me it took 4 weeks to get a negative test.

Still hope you have better news from the CVS, happy to answer questions or listen. Have the doctors indicated when you may receive the CVS results?

Thanks for the support and sharing your experience with me. They said I might get it this week.

Hi @Alice40p was just checking in to see how you are doing, any news? You’ve been in my thoughts this week as our situations are so similar