Having a really tough time… what are the tests available?

[BumbleBeeBumbum]

Hello everyone. I went for a private scan at 10 weeks (I had been feeling very sick… thought I had multiple pregnancies so was desperate to have a look) but was told our baby has omphalocele where it’s intestines are growing on the outside in a membrane.
I was referred to the early pregnancy unit nhs who did another scan and confirmed there was something going on but it could be just normal development.
My main question is, they told me at 13 weeks they can start doing some genetic tests. Does anyone know what they are? Could these just be blood tests or would it be the big needle? Are they accurate? And does anyone have experience of intestines going back in?
I’m feeling so so low at the moment, even a hand hold I’d be grateful.

I’m so sorry you’re having this stress.

You can get a blood test at about 12/13 weeks which checks for Downs, Edwards and Patau syndromes. it’s about 98% accurate (a bit less accurate for Edwards and Patau). However it doesn’t check for other less common genetic syndromes or any disorder that is not chromosomal/genetic in nature.

The CVS and amnio tests (big needle) are also only able to check for chromosomal/genetic syndromes but they can check for rarer syndromes not just the main 3 (IME it takes a bit longer for the results to come through on rarer syndromes) and they are pretty much 100% accurate I believe. There is a small chance of miscarriage but very very small if you go to someone who does the procedure very often.

Good luck, I hope this is the only issue.

Thank you so much for your reply. That’s helped massively. I’ve started to develop a bit of a fear of all this hospital stuff and knowing what to expect will really help.

I'm sorry you are going through this. The blood test that the above poster is referring to is called NIPT. There are various brands, Harmony, SAFE, IONA, NIFTY, but they are all the same test. I think its about £400, so check whether your trust will pay for it, before going private. I paid at 10 weeks for it and it picked up patau syndrome.

A friend of mines baby was born with gastroschisis, where the intestines are outside the body. She was referred to a specialist hospital in London for additional scans. When she gave birth, the intestines were wrapped in a special bag to protect them and the baby was in NICU. Bit by bit, the intestines were moved back inside his body, but there are various options depending on the severity. He is a happy 5yr old now with no other issues.

Your foetal medicine/specialist team should be providing advice on this for you though and discuss your, individual case and options. ARC might be able to to help too. Best of luck ❤

Antenatal Results and Choices (ARC) – non-directive information and support before, during and after antenatal screening (arc-uk.org)

Hi again. Do you recall what the NT was and if anything else was seen on the scan? I had a look back at my notes/scans (7yrs ago now) and my baby with patau syndrome, also had an omphalocele. I'd forgotten about it with everything else going on. His NT was 6.5mm and there other, very obvious issues seen on the scan. A cleft face (not just cleft lip), shadowing in the brain and other things- this was all at only 11 weeks.

If your scans were otherwise looking normal and the NT was normal, omphalocele can just be the only problem. Its not always connected to a genetic issue. Just remember that this isn't your fault, and you aren't alone. ❤

Thank you for your lovely reply and all the information.

They didn’t give us any of that information at both scans so I have to wait till 29th. She said she couldn’t tell anything else at this stage but I wonder if she was being kind as I was so upset? Feels like time is going so slow… not sure how I will make it to the 29th.

Thank you again for your kind reply.

Hi, sonographer here. At 10 weeks it could just be normal development. Obviously I can’t comment on your particular scan because I didn’t perform it but our normal procedure would be to rescan at 12-13 weeks to check for resolution and most of the time it has gone by then. If it persists post 12-13 weeks then your consultant will discuss further testing and may offer a diagnostic test such as CVS or amnio at that point.

good luck, hope your next scan goes well 💐