Edwards and Patau's syndrome

[ChasingSunsets35]

Hi mums!
After my 12 week scan+blood tests, I got a higher chance result (1:82) for Edward's and Patau's syndrome.
I am beyond devastated by these news and trying to gather as much info as possible while awaiting NIPT results.
I found many posts on here mostly about DS, but not much about future mums who went through the risk of these other 2 syndromes with their pregnancy.
I know this is not a diagnostic, just a possibility but I really feel hopeless as these syndromes sound horrible.
Would you mind sharing your experiences? ❤️‍🩹💔

Firstly I am so sorry you are going through this. It's truly awful.
With my now 4 month old, we had 1 in 76 for those syndromes. This pregnancy was after 5 miscarriages and the screening result nearly broke me.
I assume you had low papp a and hcg? If so did they recommend starting aspirin? Did they see anything concerning on the scan?
The screening midwife was very helpful in reframing those odds and reassuring me. She seemed genuine when she said she was not expecting to get a positive on the NIPT with this result and indeed we did had a lower chance come back. It took a few days and I did call to chase on the Friday, they had the result and it didn't sound like they would have got round to phoning me with it before the weekend if I hadn't chased
The ARC charity helpline is also excellent to talk things through with. I think I bawled down the phone for over an hour one time, they are very patient and kind.
It's impossible to keep calm I know, but do what you can to stay off the google searches as you are only going to find the tragic stories and that's no good for your mental state right now. Do whatever you can go occupy your mind x

@Chasingbaby2
Thank you so much for your reply.
I don't know anything about low papp a and hcg, i wasn't explained anything. I was put on aspirin from 12 weeks during my first midwife appt, before they even did any blood test or anything at all, just for the fact that my first baby was low weight at birth (she's now 8). Other than this she was absolutely fine, didn't need any special care and we were discarged from the hospital after 2-3 days.

With this pregnancy, I had a feeling that something wasn't right during the first scan but I wasn't told anything. The screening midwife looked concerned at one point, I could clearly see it. Then she carried on with the normal oh there's one hand, another hand, a leg, another leg and that was that. She told me they'll be in touch in the next 2 days with the blood test results if something was wrong. I only got a call a week later, exactly on my birthday and received these terrible news.
I am currently abroad in my home country, ofc I couldn't wait to be back so I went for a private scan here right away, was told the nucal fold looks concerning (don't know the measurements, i didn't even think I should ask, I was just in complete panic at that point). I was told it doesn't mean anything by itself (so further tests needed) and now I am wondering if this is what the screening midwife back in London saw and that's why I had the feeling she looked concerned at one point.

Anyway, I went for the NIPT testing and I am currently awaiting the results, this wait is really nerve-wracking. I keep thinking how I am now almost 15 weeks pregnant and don't have time to waste, if I need to go for an amnio after this and wait again for results, it will probably be another 2 weeks, I feel like I don't have time to wait but at the same time I understand there's no other way. I am on a verge of a mental breakdown but I have to be strong for my daughter.

Your story is truly heart breaking, you've been through a lot. Happy to hear you have a 4 months old now, I hope all is well and wish you all the best xx

It might be worth speaking with the screening midwife about the specific results, panic might be making you read too much into things. Though of course the agonising wait is for the NIPT and that's understandable. Really hope they don't keep you hanging over the weekend. Remember the odds they have given you are actually quite favorable. 1 in 82 means there is a 98.8% chance that your baby does not have one of these syndromes. I remember how awful the waiting was like it was yesterday. You are not alone, will be thinking of you x

My DD had a 1 in 8 chance of Edwards and similar for Pataus. Had amino, had to wait for results Turns out baby had neither of them

Hi there

I would echo the others, 1 in 82, it's still unlikely that baby has either of these. Did the sonographer mention a raised NT measurement or any other indicators on the scan?

For us, our baby had a NT of 8mm at the 12 week scan - to be honest we knew there and then this meant something was seriously wrong and it was only a matter of what rather than if. My combined blood test came back 1 in 8 for T21 and 1 in 5 for T13/18. I had the NIPT, and it came back high risk for T18. We decided not to have a diagnostic test as baby was clearly very unwell and it would only have prolonged the agony. We had a TFMR at 14 weeks.

It was heartbreaking but we have got through it by considering ourselves grateful that we had a choice, and an early indication, rather than having a very unwell baby - most babies don't make it to birth but the few that do have a very brief, poorly life.

I am now 28 weeks pregnant with our rainbow baby and have had lots of extra care and early testing this time x

I remember seeing your heartbreaking story when searching for experiences on here when I was waiting for our NIPT. Congratulations on your rainbow xx

Not me personally but my ds2 went to preschool with a little girl who had Edwards syndrome. They went to different primary schools and we lost touch when she was about 9. I didn't realise at the time how rare it was for children with Edwards syndrome to live that long and that many don't survive birth. She had a lot of needs but she was a lovely girl and ds2 really liked her.