17wk4 - Anatomy Scan

[Poppet05]

Hi Everyone, I've been scouting online for just reassurance following a scan we had yesterday. This pregnancy for us is literally nothing short of a miracle.. we were told we couldn't have children - which we finally accepted and were open to the idea of adoption. Then in January I lost my grandad - it was a horrible time. We get to February and just after his funeral we found out we were expecting.
We had a number of early scans that were really positive, 12 wk/ Combined was fine and Low Risk. However; me being me noticed for my age my DS risk wasn't as great as it should be for my age 1:247 (I'm 31). This really bothered me and then we decided to go for a private gender scan at 16wks - A GIRL!! However, my partner has adult onset PKD - with cysts all throughout the body - we always knew there could be a risk based on him having it. The scan showed a dilated right kidney. This led to a referral at the hospital, and us deciding to look at a private NIPT. The doctor said my risk factor was where it was due to the NT being slightly over the normal range but not massively.
Fast Forward.. I'm still waiting for my NIPT results (any day now). We had a scan at the hospital yesterday with a Fetal Doctor - we thought this would just be for the Kidney but she decided to do an anatomy scan. And well 4 soft markers later I left feeling so heartbroken and like I had done something wrong - (1. Right kidney showed a dilated mass, Choroid Plexus Cyst, Pericardial Effusion (slight) and Hyperchoegenic Bowel). We knew if they were on their own then it would be no cause for concern but obviously this wasn't the case.
We are awaiting an appointment for a cardiac specialist scan and an Amniocentesis.
I'm just so scared and I feel like I've started mourning/ grieving my pregnancy that felt like a dream come true. I'm just wondering if anyone has had anything similar? I've googled of course - and the general feel I've had is 17wks is too soon to consider soft markers as definitive and there to stay due to the size of baby. But I catch myself and think am I clinging to false hope.

Hi, just want to say how sorry I am you’ve had to go through all of that it must be such a stressful time. I’m sorry I can’t really offer any encouragement yet but just wanted to say a few days ago I had my 20 week scan and my baby girl has 3 soft markers - Bilateral enlarged and echogenic kidneys, echogenic bowel, Echogenic Intracardiac focus.
We are going to get a private NIPT blood test and are considering what to do about having an amniocentesis, I really don’t want to because of the risks of it but don’t know if I can get through pregnancy this anxious.

Do you have any updates since you posted or are you still waiting for test results?

Hope you’re doing ok. It’s an emotional rollercoaster isn’t it! X

@Mumtobe25ktThank you 💗

Updates wise: we have our NIPT back and it came back low risk with a 14% fetal fraction.
We shared this with our consultant as we did the test privately - she said this is really positive. Given the number of markers she had, we still decided to go ahead with the Amnio. On a positive, she was scanned before to see how she was an also get a look at the markers and she was showing signs of them improving literally within a week. For example; the fluid around the heart had decreased by 20%. So the general feeling in the room was positive, which made a difference.

I was really not okay with having an amnio, but after seeing the markers and asking a number of questions I just knew my anxiety would be too much and I felt that the risk of living that lifestyle to the end vs. The procedure risk it was a no brainer for myself (this is obviously my personal reasons and everyone is different). Our consultant was very good, she addressed what she was concerned about and also broke down the risks involved and why they’re there and that made me feel personally comfortable.

We’re still waiting for the results; we were hoping to get them today but hopefully tomorrow now.

I hope all goes okay for you, if there is one thing im
learning. Nothing is done until they are here and they are just forever changing/growing with a lot of resilience ❤️

Just adding an update….

we are still waiting for the microarray due to a complication with the sample. However, we had the 20 wk scan today at 21 weeks and little girl is doing really well… all those markers have vanished except the one we knew wouldn’t and would be watching due to my partner have kidney disease himself.

I can’t believe I am saying this but really can be light at the end of the tunnel with these things 💗

@Poppet05 so pleased for you :)

@Poppet05 That’s such great news, so glad things are looking a lot more positive for you! Thank for for sharing your update, gives me some hope. I’ve had my NIPT result back and it’s all normal and we’ve had another scan last week which showed the echogenic bowel seems to be looking better, so now it’s just the kidneys and EIF that we we will be having a scan every 3 weeks to monitor. Really hoping by the next scan things are looking better again!

@Poppet05 how are you doing? 💕

@EverythingisokayReally well thank you - finally got the microarray back today and it came back ‘normal’ so we are obviously relieved and just navigating the rest of the pregnancy.
Its a bit surreal the turnaround from just over a month ago and thinking this wasn’t meant to be for us.

Thank you for asking 💗

@Poppet05 what a stressful time it must've been for you and how it is that all is well now ❤️

So happy to hear this. I’ve been through the same. I recommend talking to a counsellor about it, as I found it really lingered.

@comoatoupeiraReally? See we’ve had a bit of a battle with this. They really pushed for mental health support actually before this whole sequence of events occurred - nothing. Then finally when all this has pretty much started to become positive, I’ve had an invite for a mental health assessment etc.. and I feel a bit torn, I really needed support during this process and the waiting but I don’t know how to explain it… I feel really good in myself. Work stresses are there but in terms of me and pregnancy I feel oddly calm. So to potentially have to go through it all again when speaking to them for only an assessment - I just feel a bit off about it 🥴

Hi All, I just wanted to close this thread off for anyone that may come across it and be experiencing something similar.

Our baby Girl arrived at the beginning of November - she came out happy and healthy.
Because of the findings they carried out some scans on day 2 - one of which she’s sailed through with no issues and the other they are doing some diagnostic work but nothing appears to be malicious, as they know it’s there they want to keep any eye on it.

She continues to thrive! And one take away I have, as much as it’s a dark and stressful time during the scans.. I do feel we could go into the birth with our eyes open and prepared. Unfortunately we were witness to the opposite in the hospital for a number of reasons and so I feel Knowledge can be power x

Congratulations 💖