High risk Edwards / Patau

[Jaq2014]

Just had 12 week scan, first baby. Everything looked good on the scan, no abnormalities showing (and trust me they looked A LOT! Was there for 6 hours had three internals and three tummy scans - baby was stubborn and refused to move into needed position!)

But had bloods back and am considered low risk for downs (1:2717) but high for Edwards/Patau (1:34). 😔

Having Harmony test done tomorrow but, am I wrong to cling onto the hope that nothing showed on the scans??

My first baby had edwards and it was obvious from the scan. Won't go into detail, but it was clear many things weren't as they should be. However, it isn't usual to be able to detect things by scan at an early stage and it is more usual that they are detected at the 20 week scan.

I'm sorry you are going through this and I probably haven't helped. Fwiw my probability was given as 1:9 of a chromosome disorder, so yours is much less.
Hang in there. There is hope until you find out there isn't if you see what I mean.

Sorry should have said the first scan at 12 weeks detected the problems.

I was similar to you - 1:42 for Edwards and Patau at the 12 week scan. Though I was also 1:104 for Downs.

The hospital only told me the Downs odds (the Edwards/Patau ones were printed on my notes but they didn't actively tell me iyswim).

When I asked later why they hadn't flagged the Edwards/Patau odds, they said it was because the scan had looked totally normal and it was very, very, very unlikely to have Edwards/Patau with nothing showing on the scan.

So I think since you had a clear scan, you can be pretty confident your baby does not have Edwards/Patau. Plus 1:34 is still only a 2.9% chance, pretty small really even though the words "high risk" makes it sound high.

I had a CVS (this was before harmony existed) and it was all normal.

I'm so sorry you are going through this.

My dd2 had edwards. We had slightly dodgy bloods but nothing was picked up on the 12 week scan. Nothing picked up at 19 weeks, they finally found soft markers at 21 weeks. Kings re-ran my bloods with the markers at 21 weeks and I came back with a revised risk of 1:64.

I'm sorry to be a bearer of bad news but trismoies aren't always picked up at 12 weeks.

However, until you have your results there is always hope. I hope they can get your harmony results back quickly.

I would suggest calling ARC, they are brilliant and the helpline is so good for that awful waiting period.

I am more than happy to answer questions if you do come back with a positive screen. You have 2 options of carrying to term or a termination for medical reasons. I had a tfmr at 22 weeks. I know there are some wonderfully helpful posters who chose to carry to term so either way there are people here to talk to if you do get bad news.

Keeping everything crossed for you 💐

Ah Kitty so sorry about your DD2 and sorry millions to have given inaccurate advice. My hospital seemed very confident that soft markers would show up at 12 weeks but with hindsight perhaps they were just justifying an oversight in not having flagged the odds to me.

I think you are going to have to take a massive deep breath and wait for the Harmony results. From memory I think they take two weeks.

I would say a good 12 week scan is great. The baby I lost at 11.3 weeks was found to have Downs, so these chromosomal issues can and do show themselves early. For some reason I just thought Downs babies lived, I didn't realise they could die in pregnancy (god I was naive).

Everything crossed your results come back perfect. I am currently sitting here minding my 9 month old as he crawls around the floor wrecking the joint. He was my perfect Harmony result 😍

Thank you xx

I still welcome all the advice/experiences... Thank you 💕

Handholding until you get your Harmony results back.
Where have you had the test? Mine came back within 7 days, so hopefully you won't have to wait the full two weeks.

They should be able to get your results fairly quickly. 2 weeks is typical in an otherwise 'normal' pregnancy. If you are having it because there are concerns they usually try to get them quicker.

I got mine, privately, in a 'normal' pregnancy within a week.