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Original poster

Increased risk of Edwards and Pataus

96 replies

Liara1512 · 06/03/2019 17:15

Hello, Im just posting this and I feel so alone and have nobody to talk to that can relate to how I’m feeling right now.
I am 12 weeks and 4 days pregnant with my 2nd child. I went for my first scan at 11+6 weeks where I had the screening test done and sonography this found an increased NT measurement of 5.3mm. I was then sent for another scan with a consultant the following day where she explained to me there is a 1 in 3 chance of my baby having a chromosome abnormality. Today I received my blood test results via phone call from the hospital and they have now told me I am low risk for Down syndrome and high risk for Edwards and Patau. I am completely terrified I am 22 and didn’t even expect anything like this to happen. I just wondered if anybody had similar experiences they could share as right now I am completely confused and scared. I am booked in for an amniocentesis on the 25th and don’t know what to expect with that. Any replies would really help.

OP posts:
Georgia1512 · 27/03/2019 09:21

@KTD27 Thankyou so much for your kindness and support, it’s not looking good just preparing myself for the phone call which I should receive today with the results

Littlebelina · 27/03/2019 09:24

Sorry to hear that Georgia. My situation was different to yours but I know how agonising the wait is. Hope you get your results soon Flowers

notapizzaeater · 27/03/2019 09:27

Hope they don't keep you waiting all day 🤞

Crushedvelvetcouch · 27/03/2019 09:34

Sending positive thoughts and wishes to you OP.

Georgia1512 · 28/03/2019 12:41

Thankyou all for the positive wishes, I still haven’t heard back with my results. I was told I’d hear yesterday and rang the hospital they said it would be this morning, rang the hospital at 10am and they still don’t have the results. Could this possibly be a good sign that the fluid isn’t yet showing anything? I’m just out of my mind waiting around

Georgia1512 · 29/03/2019 09:41

Just wanted to give a quick update, got my results yesterday and unfortunately my baby does have Edwards syndrome I’m deveatated and completely scared for the next few weeks. Thankyou to everyone for your support and kindness towards me

Crushedvelvetcouch · 29/03/2019 10:57

I am so sorry Georgia,
I hope the next couple of weeks pass as painlessly as possible and that you can do what you need to with strength and peace.
Best of wishes for your future, we are all here if you need to talk x

aweedropofsancerre · 29/03/2019 12:10

Georgia1512 I have been where you are, Big hugs from me

redwoodmazza · 29/03/2019 12:34

I was pregnant in 1992 so tests then were a little different. I had a standard AFP test about 12 weeks [can't remember exactly] and the results showed the baby could have a cleft palette, hare lip or innards forming outside the body - opposite result to that of Downs Syndrome. Repeat test was the same result. I was advised that an amniocentesis test was a risk to take and that result would not be conclusive anyway. There was nothing to do but worry until the birth.

On my birthing plan I asked the midwives just to tell me if the baby was OK or not when it finally appeared...

He was absolutely perfect!!!! Nothing wrong at all.

I later found out that our relatively new doctor arranged AFP test as routine and that not all doctors did. So if I had been registered with another doctor, I may have not had all the worry which ended up being unnecessary.

Good luck and wishing you all the best.
[PS Son is now 26!!!]

KTD27 · 29/03/2019 18:42

Oh Georgia. I’m so very sorry. It’s such a hard thing to deal with I wouldn’t wish it on anyone.
Have you decided what you’re going to do? If you haven’t already the ARC were brilliant with me at this point in our diagnosis so they might be someone to talk to to go through your options.
For us it was a surgical termination as I didn’t want to deliver our baby. It was the right choice for us absolutely but you may decide to do things differently and that’s ok.
If you decide to have a surgical TFMR then do PM me if you have any questions at all.
Massive love to you and your partner and family. It broke my heart completely to say goodbye to our Edwards baby I have nothing but love and sympathy for you all. Flowers

Georgia1512 · 29/03/2019 19:14

Thankyou crushedvelvetcouch, awedropofsancerre and redwoodmazza it’s just an awful time and I’m just in shock right now.

@KTD27 I went back to the hospital today and they told me the procedure I’d have would be a medical termination which scares me as I’m going to have deliver my baby. We haven’t yet decided what the best thing for us would be, the biggest part of me wants this baby no matter how short amount of time I get with it, I just want to hold it and show it love, but then another part of me is worried about introducing a baby into my 3 year olds life and then the worst happens and I have to explain to my daughter. I’m so confused in what’s right and I think that’s the worst part is that there isn’t a right decision.

Littlebelina · 29/03/2019 19:49

I'm really sorry to hear that Georgia. I second what KTD says about talking to ARC. Take your time with the decision. We lost our little girl postnatally, we'd decided not to tfmr as we were told it might go either way after birth. We don't regret that decision and the time we spent with her. However if we had the same diagnosis in our next pregnancy we would have opted to terminate, not least of all because of our oldest child. As you say there are no right or easy decisions here. Much love to you allFlowers

KTD27 · 29/03/2019 20:31

You’re absolutely right there isn’t a right decision. Just to let you know though I had my TFMR with BPAS at 17w5days so there is another option out there for you even if it’s not one offered by your hospital.
Again it may be worth a phone call. Flowers

Vika1985 · 30/03/2019 13:38

So sorry to hear this. I carried my daughter who had Edwards Syndrome to term and we had a short time with her after she was born. Have absolutely no regrets. Please pm me if you want.

Georgia1512 · 31/03/2019 20:29

@littlebelina I’m definitely going to give them a ring I’ve heard good things about them from a lot of people, thankyou it means a lot x
@KTD27 we did briefly look into that but I think we’ve made our decision and we are going to carry on with the pregnancy, I just feel like I want to give this baby a chance, I’m just not sure how to maintain normalcy for my 3 year old at the same time, it’s not going to be easy but there’s no easy way in any of this - thankyou for your support. X
@Vika1985 so sorry to hear that, but I’m glad you feel it was the best decision for you, I feel it’s the best decision for us too, I just want to give my baby the best chance at life, no matter how short that maybe I just want it to know love if that makes sense X

anniehm · 31/03/2019 20:39

Thinking of you Thanks so sorry

Georgia1512 · 31/03/2019 21:27

@anniehm Thankyou it means a lot xx

Crushedvelvetcouch · 01/04/2019 00:06

Georgia, I know exactly what you mean, to show your baby your love for however long you have together. It makes perfect sense and I wish you and your baby lots of luck, let us know how you are getting on, I hope your decision brings you peace x

Georgia1512 · 01/04/2019 10:32

@crushedvelvetcouch thankyou, I just feel that it’s the right option for us and I will do x

Fuppy · 01/04/2019 11:24

My experience was similar, V.high NT the initial combined results came back high risk of Downs.

I had a CVS. Clear of Downs, Edwards & Pattau syndromes. Showed I was having a boy.

NT stayed large, nothing else came up as an issue other than a couple of very small holes in the heart and polyhyraminos (extra amniotic fluid).

Waters broke early at 24+ weeks, delivered at 25+ weeks.
After 3 cardiac arrests my son died after 39 hours of life in my arms. I don't regret meeting him. Still can't say if I would've made the same decision if I'd known the outcome.

6 months later his blood tests came back showing a syndrome that isn't tested for in a CVS/Amnio (also deadly) and had to wait a further 6months to see a geneticist to find out if it was 'safe' for me and DH to try again.

Fast forward 2 years, I'm 22 weeks, everything looks great on scans so far and I'm both happy and terrified.

I hope yours is a happier story OP Thanks

Sorry to all of you who have been through similar, it's the most unique kind of pain, even now Thanks

Georgia1512 · 01/04/2019 12:48

@fuppy so so sorry to hear your story, but glad you didn’t regret meeting your little one, I think I’ll feel the same regardless of what time I have with them. So lovely to hear you’re carrying again without complications it just shows there is hope and as awful of a time it is for anyone who has been through something similar, there will be hope again. Flowers

KTD27 · 01/04/2019 14:13

Oh Georgia you’re incredibly brave I think you’ve made an amazing decision and wish you nothing but love. Flowers

Fuppy · 01/04/2019 14:34

@Georgia1512 thank you, I'm sorry you're in the position you are. Whatever decision you make in this position is brave. I wish you the best Thanks

Georgia1512 · 01/04/2019 18:45

@KTD27 @fuppy thanks so much that means a lot Flowers

moita · 01/04/2019 19:38

Just want to echo you sound like a lovely lady and I wish you all the best. An impossible decision to make xx