High risk Edwards/Patau

[NSx]

Hi all,
I’m extremely worried as I received a call from my midwife today to say I was low risk for DS, but high risk for the other two <Edwards&Patau - 1 in 32.

when I asked what put me into high risk, she said it was my bloods(hormone levels), my Papp-a & HCG levels were off. Low and high I think.

I asked if anything was seen at my latest scan (13wks) and she said everything was normal NT was 1.8mm and all the babies measurements were normal.

I’m 34 years old with my first pregnancy. I’ve opted to do an amnio test next Friday (15+1) as she said NIPT is more accurate for DS rather than T13&18.

has anyone been in a similar situation? I’m freaking out and haven’t stopped crying.

x

There was a recent thread on a poster's personal experience of an Edwards diagnosis. It should show up if you search for it. I'm sorry you're going through this, it's so stressful.

What was your actual result? 1:?

Result of what sorry ? My head is gone at the moment.

all I was told was 1in32 chance of having it.
my papp-a is 0.150 - that’s the only figures I know.

It sounds a scary result, but it's still only a 3.1% chance of your baby having it. Put another way, there's a 96.9% chance he/she doesn't.

Try and stay calm.

I’m trying to stay hopeful but I’m terrified ..
thanks for the positive words.

It breaks my heart to read this. I despirately hope for a positive outcome for you. Do you know your hcg figure?

If high its not likely to be Edwards which is the only condition I have experience with. My odds were much worse than yours xxxxxx www.mumsnet.com/talk/antenatal_tests_choices/4542751-our-edwards-story

Have arc been mentioned to you? I haven't used them personally but have heard good things about their help lines and forums.

Are you on daily aspirin?

Amnio is the most definitive test you can. The wait will be hard I'm sure. I am thinking of you xxxxx

Hi, thanks for replying. I read your thread and I was crying my eyes out. You are so brave to write that and it has given me a lot of info so thank you.
I don’t know my hcg when she told me details I was in such a daze so I assumed high, but now the more I think of it she may have said low.
yes she has put me on 150mg of aspirin.
this whole waiting game for my amnio next Friday will kill me, then to wait for results but it’s the only way I will know.
I will contact her today to get my exact info because I feel yesterday I really couldn’t focus.
hope you’re ok, thanks again for reaching out it means a lot xx

My screening nurse team were amazing so I hope yours are the same. If 32 women present with your stats only one will have Edwards /Patau. Pm me any time x

Thank you so much. I feel physically sick, like sick with anxiety.
I really appreciate your support I know this must be hard for you to revisit.
I’m preparing myself for the worst, then that way I won’t be as heartbroken, although I guess the heartbreak is inevitable! X

The waiting is so hard. I recommend Arc. Very supportive and informative. Helped me to understand what was happening.

Best wishes for a good outcome for you Op

I will definitely look at arc, thanks so much. I’m hoping and praying for a good outcome! x

Spoke to my midwife -

I was Papp-a 0.150
and hcg 0.53

so both low

I hope you can find some mental peace during your wait, even if it's a snatched five minutes here and there while you're thinking of something else. They will do a scsn before the amnio which will give you more information. Sending lots of love x

Thank u so much. It means a lot it really does xx

Slightly different OP but I had low Papp a, high hcg and was 37 (would be 38 at birth, first pregnancy). Combined tests gave me a 1:19 chance of Downs. NT was also 1.something like yours.

Had a CVS at 14 weeks and was told all was fine. Can confirm 4 years later they were right!

Thanks for your message.
I’m trying to stay hopeful but you just never know.
how low was your Papp-a, it was 4 years ago so not sure if you can remember?
I guess I will only find out with the amnio next week.
fingers crossed x

@NSx in our situation there was an admin error that listed a heart defect and gave high risk for downs. NT scan was also normal.

By the time the error was realised, they had already taken a CVS sample, and which killed our short period of relief as it tested positive for traces for T13.

Subsequent scans and amniocentesis all came back normal. Fetus is currently 41weeks+3, quite overdue and kicking healthy.

Patau and Edwards are quite severe, they're usually visible on a scan in most cases.

I’ve been told I will have a scan when I go for my amnio and I’ll be 15 weeks by then, so I’m hoping that if anything they will be able to see something on the scan? as at my 13 week scan there were no visible abnormalities and everything is normal (and they took lots of measurements of skull brain etc)

the midwife said that my low hormone levels could still result in everything being fine but it’s hard to be hopeful when faced with this type of news.
I just don’t know what to think tbh.

I don't remember but will try dig out my notes! Let us know how you get on. I know how awful it is waiting, sending a massive handhold x

I'm sorry you are going through this OP. It can be so hard not knowing. My 1st pregnancy had patau's, picked up on NIPT. From memory the NT was 6.5mm at 11 weeks, so MUCH larger your your babies. Also, there were very obvious physical issues seen on the scan even at 11 weeks, some of which I could even see on the scan when pointed out.

The fact the NT is normal and nothing abnormal was seen on the scan is great. If you have any questions, please just ask

Thanks so much I appreciate it 🤍

I’ve heard so many mixed stories, some ladies with similar numbers to mine having an absolutely healthy baby, others not so I guess it’s anyones guess what my outcome will be.
I have my amnio on Friday & she said I should have results by Wednesday. So I guess it’s just a waiting game to see what the results say.
I really do hope everything is ok, but you never know, so I’m trying to mentally prepare myself for the worst!
thanks for your support 🤍

Good luck for tomorrow. I've been thinking of you. Xxxxx

This honestly means so much - thanks for being so kind… im extremely nervous xxx

Mine barely hurt. Less than a normal injection. But I'm guessing that isn't the but your nervous about! You know to go with a full bladder like a normal scan? Hopefully the scan will tell you a lot. Then it's more waiting til Wednesday isn't it. Wishing you all the best xxxxxx