Looking for some advice and prior experiences with trisomy 18 (Edwards syndrome) Risk 1 in 152

[Chiqita]

Good day to all. Looking for some advice and prior experiences with trisomy 18 (Edwards syndrome) risk diagnostic. The combined scan and NT test at 12 weeks gave a very low probability for the Down syndrome, but a worring 4-fold increase in Trisomy 18 risk, from 640 for my age to 152 (I?m 35). The baby?s heart rate was low (156 bpm) and both hormone levels in the blood were about 0.3 MoM. My understanding is that 152 is a borderline high risk. We are also going through the waiting pain for the thalassaemia test results, as I tested positive as carrier, with no worries at all coming out from the tests during the first pregnancy with DS. This made me read everything all over again and see this result. We were given the ?all clear? by the sonographer in the hospital and left happy.
Anyone had this type of result and what did they do? Waiting to speak to my GP but not sure they can help? also checked the private links provided in other threads and these clinics mostly specialise in scans. I was thinking maybe a triple blood test could give some more reassurance? Don?t feel like having a diagnostic test with these odds just yet, trying to put my mind at rest. Any personal experiences shared would be so reassuring. Thanks in advance?

I am nearly 16 weeks now

Can't really help but didn't want to leave your post unanswered. Am sure someone who knows something more will be along sometime today. Have you found soft.org.uk, I think they are the ones to contact for information, have seen their name on here before.

Also please contact ARC - they have a website and offer telephone advice. I found them fantastic when debating an amnio. They know so much.

You could also think about a marker scan at a private clinic. You could have that before the NHS anomaly scan and it' s more detailed. However a guess an amnio is the only thing that will tell you for definate.

Thank you fifitot. I have done nothing else today but spoke to various people, ARC, my GP, hospital, FMC... Basically the hospital offered amnio straight away after looking at my results, this must have been missed off by them somehow. I refused as I want to get to the detailed scan first and see if they see any markers (that should be present with this type of anomaly) rahter than risk the healthy baby with an invasive. The scan is more than a month away still so I have to get myself together and hope for the best. Private clinic also said they can do an amnio but advised to wait for at least 2 more weeks with a detailed scan. If this is indeed T18, the baby may not even survive this far... Wish us luck

My son was thought to have this and we refused all tests but accepted extra scans. I was having him whatever so didn't want anything intrusive.

T18 babies can and do survive.

Hi Chiqita,
So sorry you're going through this. With my second baby I was given a combined risk of 1 in 25 for Downs and 1 in 7 for Edwards syndrome. I have strong memories of how awful that time was. Because my risks were relatively high I opted for CVS test. I think you are too late for this now though and would have to have an amnio to be sure. My understanding with Edwards is that there should be markers on a detailed scan. I think you have to think about the real odds here, if you had 152 babies 1 would have Edwards that's a chance of 0.65%. In other words you are 99.34% likely to have a baby WITHOUT Edwards syndrome. Those are very good odds.
My daughter tested negative for both syndromes and is a bonkers little lady who turns 2 on Saturday.
My thoughts are with you.

Thank you very much FabIsDoingPrettyWell and mrslurkalot for your kind words. I feel a little calmer now. After all this I started having some bloody discharge and went to my hospital yesterday for a check-up. Must be nerves, as they haven't found anything wrong and the baby's heartbeat was there. With these odds we decided not to go for an amnio now. My second scan was brought 10 days forward, so feel better about that too. I will probably repeat the scan at FMC just to ge the second opinion.
mrslurkalot, happy to hear everything went well for you. Reality is, the odds we are given are just statistics and there is always a chance for a false negative or false positive. We just need to be clear about our priorities and next steps if we do tests.
Fab, thank you for sharing your experience. Are you still expecting?

My DS2 (third baby) had a soft marker for Edwards at my 20 week scan. It was a choroid plexus cyst in his brain. Because of my age (33) we were given the odds of 1 in 200. We decided not to have any further tests ie the amnio, as the cyst was the only thing giving any indication of Edwards. I hadn't had the triple test, so I have no idea what my odds would have been with that.

Like Fab, I was having this baby no matter what, which we did. He is now a gorgeous 7 month old who does NOT have Edwards syndrome.

Good luck
x

Hi Chiqita. My first pregnancy the baby had Edwards syndrome discovered at the 12 week scan and we had the CVS straight away which confirmed it. The Consultant saw so many markers for Edwards when she was scanning that she was quite sure even before the CVS results came back that it was Edwards. So it must have been quite obvious even at 12 weeks.

I think you are doing the right thing not having the amnio. Maybe you could ask the FMU for a scan now if you don't want to wait. I don't think that would be unreasonable.

With my second pregnancy I was scanned at 8, 12, 16 and 20 weeks. All good and DS is 16 months now.

Good luck to you.

No, not still expecting. He is asleep upstairs .

I think they do soft marker scans from 18 weeks, any earlier they can't see everything they need.