12 week scan yesterday... devastated. Any advice welcome.

[WickedWitchOfTheWest83]

Hi,

So yesterday (Friday) morning my husband and I skipped off to the hospital for our 12 week scan, both very excited to see our very much wanted 2nd baby.

An hour later, after hearing the heartbeat and watching the sonographer struggle because the baby was moving around so much (which my husband and I were laughing at because we thought it was so cute!), we were ushered into a private waiting room and told our baby’s NT is measuring at 6.3mm and there seemed to be a bit of fluid around the head too. I was hysterical and my husband was barely holding it together.

They took my bloods and couriered them off to be processed as quickly as possible and booked me in to see the consultant for another scan and CVS on monday. So we are waiting all weekend unable to function at all!

The foetal medicine nurse/midwife who was in the room with us at the hospital, trying to reassure but also prepare us and explain everything to us as best she could, called yesterday afternoon with the results...

1:146 risk of Downs.
1:9 risk of Patau’s Syndrome.
1:9 risk of Edwards syndrome.
Hormones are very low too - 2 particular pregnancy hormones that I don’t remember the names of.

So all is still going ahead on Monday with the scan and CVS. The consultant isn’t actually working on the ward that day but she is going to be in the hospital and has promised to come to the ward just for me.

We are in pieces. I can’t believe this is happening to us! This sort of thing is the kind of thing you read about but never think it would happen to you. Not really. I’m 34, my husband is 38. That’s not really old, is it? My husband and I just keep taking it in turns to be the strong one and hold the other while we cry. It’s mostly me crying, but he is just as devastated. We have to get through the next few days of tests, results and decisions and I’m not sure how to do it.

I keep scanning the internet and these threads looking for good news - women who have had the same experience but had healthy babies. We wouldn’t continue with the pregnancy if we didn’t think the baby was going to have the best quality of life, but we are trying to not go down that road yet - we want it to all have been a mistake on the doctors part.

I’m not sure what I am asking, but please post whatever replies you think might help.

I have no experience of this but want to wish you the very best xxx

Didn’t want to read and run no advice I’m sorry just wanted to wish you well.

Hi op ,

I'm so sorry for what you're going through. I only really have one piece of advice and that's to make any decisions together, it's the only thing that will keep you sane while you wait for results.

Also , what is happening to you is more common than you think, people just don't talk about it unless you reach out.

Good luck and take care of each other

So very sorry to hear this. It sounds like you’re so strong together as a couple.
I hope that whatever happens, that you’ll be well supported by your friends, family, each other and your healthcare professionals.

The thing is, is those are still really, really good odds. 1:9 means that there is an 89% chance that your baby will be completely fine. If you were told you could buy a lottery ticket and have an 89% chance of winning it you’d start planning how to spend the money.

What I’m trying to say is that you cannot cross a bridge you haven’t come to yet, and yes the weekend will be horrifically hard for you, but the odds are still massively in your favour.

So sorry you’re having to go through this. Wishing for the best for you

Ask for a full micro array looking at all chromosomes as it could be ok for the trsomies but still be another disorder. Then you can get informed.

You are going to be inline for more tests and a rollercoaster. Take it one day at a time. You can't change the outcome genetically ....the genetics are already decided..... wait for first results and speak to a counsellor.

What does best quality of life mean to you ? No need to answer it s between you and your dh.

My ds has a disorder which is not down syndrome or the other trisomies.. a different microdeletion. He has a nice life... challenging as a parent tho.
(I had him at 32. My most typical child I had later at 37. It is a lottery. )

I don’t know what to say except I’m very sorry and my heart goes out to you today. It sounds like your husband is very supportive and I just wanted to send good wishes to you both.

I agree with pp it’s a worry for you but the odds are in your favour . With my first pregnancy we miscarried a twin at 12 weeks and then at 16 weeks after a scan and bloods got a phone call on a Friday evening to say the remaining baby was very high risk of spina bifida and that an appt had been booked for Kings on the Monday . It was a hellish weekend ( first baby ) but it all worked out fine and he’s 25 now . Best wishes to you both and I hope it is good news on Monday .

Thank you all. For me, best quality of life doesn’t just mean the baby’s but our whole family. I already struggle with health issues - I’m epileptic (Grande Mal seizures, triggered only by stress, so medication doesn’t work, just trying to live as stress free a life as possible!!!) and I have fibromyalgia (which is a chronic pain syndrome, again triggered and made worse by stress) and M.E. (also known as Chronic fatigue - yep, triggered and made worse by stress!). The past 24hrs have been stress hell so I’m waiting for these to all be triggered...

I have 2 stepsons and a 2.5yr old son who are all a handful at times (like all kids their age!) and my husband works what can be stressful and dangerous job, as a fireman. A baby in itself can be stressful but also joyous - we planned this baby and knew what we were getting into and are more than ok with everyday issues that crop up. My son was deaf for more than his first year so he is slightly delayed, although he is catching up. He is challenging but wonderful. This sort of thing I can cope with. But we aren’t talking everyday issues here. We are talking babies that rarely live past a few hours and 95% die before their 1st birthday. And these babies with Edwards and patau syndrome have horrific deformities.

I just can’t - I have a friend who’s 15yr old daughter has spina bifida and I see how hard their life is. How hard the whole family’s life is. I also see how wonderful it can be, but I know it is a daily struggle and we/I already have so many of them ourselves/myself. I think Down’s would give us perhaps a fighting chance, but they aren’t saying they think this baby has downs.

Please don’t judge me - I am doing enough of that myself. I feel like the worst mother on the planet. My body did this to my beautiful baby and it may not even survive pregnancy. I know the odds on the one hand sound ok, but the midwife’s face when we were with her said it all and her voice on the phone did too. I kept saying “but I’ve heard it can all come back ok in the end, right?” And she did say yes, but she also kept saying to prepare ourselves. We are trying to prepare ourselves for the worst and any GOOD knews would be a bonus.

I think just need some hand holding and some personal experience stories.

The CVS on Monday will give us the main three results by Wednesday and within a week we will have all the other test results back, so I think we are doing all we can for now.

didnt want to read and run

Hi op,

I was in a similar position earlier this year. I went for my 12 week scan and the baby was surrounded by fluid as well as having a couple of other markers for a chromosome abnormality. An appointment was made for fetal medicine the next day and we were sent home by a lovely sonographer who told us to keep away from the internet. At our appointment the next day we had another scan and were told it didn't look good. We had the CVS and results came the next Tuesday, it was Edwards and we had a tfmr on the Saturday. Honestly it was horrible and we were devastated. I tell people that we lost our baby. I don't regret our decision but some people judge even when they have no idea of what we went through or what it meant for our baby if we continued. I also feel that we did lose her.

I'm now pregnant again and have had another CVS which came back clear but still waiting on full results and have dating scan this week. It's been one step at a time and very emotional. I feel a lot of guilt for being pregnant so soon after.

Our case was pretty clear cut from the scan and I truly hope things work out for you. Your odds are a lot better than ours were.

If things don't go well you will get through it, be kind to yourself and take it a day at a time. I am happy to PM you if you want to chat about any aspect of it. I'm not sure if any of what I've written is of help but do ask me anything if you have any questions.

I'm thinking of you and hope that yours is a happy ending. People do have them x

I would not judge you at all. But bear in mind that not edwards/notpatau as you know does not guarantee zero medical or other issues. Scans and tests were a rollercoaster with my ds as worrying signs self righted then others appeared again.

Good luck with cvs and if that is ok you can get additional scans eg 4d and higher level chromosome testing to see what is happening.

Increased fluid is something that needs to be followed up whatever the cvs results.

But you did not cause this...you are not responsible for your genes or for any miscollisions when sperm and egg collided. Nature is random. When you scatter seeds not all grow and not all grow correctly...and some that look weak initially will actually be fine in the end.
You just have to wait and see and make decisions based on what information you have...
One step at a time. Be kind to yourselves.

Thank you NewHope - it does help, if only to know I’m not the only one going through this. Also to know that, if this does have the outcome we are dreading, it doesn’t have to be the end for our growing family. Just saying that makes me feel guilty though, so I just have to focus on the here and now for the time being. This is the baby we already started making plans for. The baby we had already named if it was a girl. The baby we had started telling our youngest about and he kisses my saying “baby brother or sister in mummy’s belly.” It just breaks me. I’m like a zombie at the moment and the only person that gets it is my husband - and even then, not entirely, because it’s not his body that is carrying the baby and no man will ever fully understand what it feels like. But you do. All you women get it. Not that I would tell him - he is as much in love with this unborn baby as I am.

My husband was convinced it is a girl and we were going to name her Poppy - we got married on remembrance weekend, my husband and his late brother were paratroopers, we had our first date on Remembrance Sunday... Poppy’s mean a lot to us. We are also moving to a farm in May (my parents sold everything up and bought one with 2 houses on, 1 for us and 1 for them, so that we could move next door to them and they can help with our children, including this one) and he wants to start making jams, marmalades, Apple pies, etc. from all the fruit and apple trees and sell them at farmers markets in our spare time. Make it a family fun business/hobby. He designed a logo for it on Sunday evening - “Poppy’s Preserves” and its really beautiful. It’s only for a bit of fun really, and we probably won’t ever get about doing it, but this morning we woke up, got ready to take him to work and as he grabbed some paperwork to take to work with him, the scrap of paper with all the designs he had done fell onto the kitchen table. We just stood there in silence staring at it before he folded it up and put it in his wallet to keep.

Not sure why I’m telling a load of strangers this. Just don’t have anyone else to tell - other than my parents and his mum, we haven’t told anyone as we don’t know what to say! Our close friends keep texting us asking how the scan went yesterday and we are just ignoring them. Clients are texting me asking to book in for treatments and I’m just ignoring them. Our world has stopped spinning and everyone else’s is still going round as normal and I want to scream - someone was moaning about something really trivial in Boots earlier (I went in there to see if I could have something for the sickness I’m feeling) and I wanted to shake this person and tell her what real problems really are!

But their world goes on and it’s not their fault is it that mine has shattered? It’s just not fair.

Sorry for going on. I just don’t know who to talk to or what to do with myself. Need to sleep I guess...

Thank you all again for even just commenting with flowers when you don’t know what else to say. It helps xxx

Thank you cestlavie

I’ve screenshotted your post so I can remember what you say about extra tests and what to make sure I get (4d, etc) after the cvs.

I just wish I could wave a wand and the wait be over - it’s the waiting that is so awful! The “what ifs” and “whys” and then forcing myself to be hopeful only to have it shattered seconds later by google! I think it might be best to have no hope and then be overjoyed when there is positive news we weren’t expecting, rather than the other way around.

X

Fingers crossed for you OP. Those are scary stats for Edward's and Patau's. My baby had an NT of 3.8 and I got a 1 in 5 chance for Down's (1 in 312 for the other two) but after testing (via CVS) I got the all clear, so fingers crossed you will be in the same boat. If not I completely understand your reasons for making what will be a heartbreaking decision. I went through all of that thought process myself and was so glad I didn't ultimately have to make a decision either way

Just to say I’m thinking of you. We unfortunately went through the same last year and our results weren’t good news, baby had a fatal abnormally and we terminated our pregnancy. It was devastating. I hope you get better news than we did. It’s very difficult

wickedwitch my heart goes out to you.

I was in a very similar position, same 1:5 odds at the pp. i felt as you did, but it was 10 years ago so didn’t have it as detailed (a good thing I think). Do try to focus on the odds over the next few days, to get you through.

In my case, having had a CVS, all was fine.

Wishing you the best of luck - the chances remain in your favour. Hold on to that.

Hi wickedwitch
I’m sorry you have to go through this, my heart goes out to you.
As cestlavie said, I would ask for a prenatal microarray (the full panel) instead of karyotype (do they still do karyotypes as standard these days? I don’t know!)
Even if the main trisomies are excluded, there could still be another genetic disorder present. And if nothing is detected, they probably will want to do in depth heart scans.

My little boy also has a microdeletion syndrome but we are having a good life (he is our number 3). Funnily enough though, my pregnancy with him was perfect (bloods, screenings and scans) so nothing was ever flagged up.

thinking of you both op

Hi, Wicked, sorry you are having such a worrying time of it.

If nothing else your CVS result will give you certainty (well, at least about the common chromosomal abnormalities) and until then please do your best not to think too much about the what ifs - easy said, not that easily done, I know that fine well.

I carry a genetic abnormality that gives me a 1:4 risk for carrying a baby with either Trisomies 13 or 14. I have had 4 healthy children and 4 MCs all of which had nothing to do with my translocation.

I am just saying this as odds can only ever give your a risk, a chance, and mean nothing at all for that one individual pregnancy that you are worried about.
Obviously you could be carrying an affected baby and then you need to decide what is right for you and your family.

Very best of luck this week

Hi OP
I’m sorry you’re going through this. I did earlier on in the year. I had the CVS test after concerns at the 12-week scan. Unfortunately, it did not end well and we chose to terminate. I say chose; there was no choice in the matter. I understand what you mean when you asked others not to judge. Don’t worry. You don’t need to justify yourselves to anybody.
Although I don’t have any hopeful stories for you, I can answer any questions you have.

Nobody will judge you, this is devastating. My cousin had a little girl with edward’s. She still thinks about her to this day (they chose to terminate). She will
Always be in her heart but she did go on to have other healthy children.

and a hug; you sound lovely. I dearly hope things work out well for you all.

Sorry you are going through this, I have everything crossed for a positive outcome for you.