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First trimester screening, 2.8m NT, high free beta HCG. Panic.

15 replies

Arnemamma · 07/09/2015 14:57

Hello folks. I'm new here. Looking for solace!
I had a 12 week scan last week (12w5d) and came back with a 1:44 chance of Trisomy 21. Devastated. I know that means a 97% odd chance things will be fine but I'm an arch-worrier.

Here are my stats:
NT 2.8mm (awful)
CRL 69.7mm
HCG 2.9 MoM (awful)
PaPPa 1.1 MoM

I'm 40 but the embryo was frozen when I was 36.

It's an IVF pregnancy from a frozen cycle and I still take cyclogest (progesterone supplements). I have two boys, 12 and 3, both straightforward during pregnancy and now (touch wood).

I did the Harmony Test today at UCH and now face the 7-10 working day wait for results. Trying to stay calm for the kids (and for a full time job) in the meantime but it s DRVING ME CRAZY.

Anyone had similar results? Anyone had wonky bloods because of IVF?

Please help, if you're out there. All help and advice much appreciated.

OP posts:
RattyCatty · 07/09/2015 20:30

Hi - I'm so sorry for your worry Flowers

I don't know about ivf affecting your blood tests (I'm sure someone will come along with more knowledge) but my NT measure at 12 week scan was 2.7mm & was told anything under 3.5mm is considered normal.

Try to focus on the good stats Flowers

Arnemamma · 08/09/2015 10:11

Thanks for your kind reply RattyCatty. I retrieved my (now 4 year old) son's previous readings and he was much closer to normal. He was also an IVF baby, so I think that might be a red herring.

I guess I am now playing the waiting game. I'm having the test repeated tomorrow at the FMC, and while I sorely hope for a better result (they use more soft markers), I am bracing for worse.

Good luck with your pregnancy and let me know how it goes!

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Lagoonablue · 13/09/2015 18:19

How did you get on?

Slowcoach40 · 21/09/2015 07:55

Hi Arnemamma

I hope that by now you've had some great news. I like you got a high screening, 1:75 with the NHS. I did the Harmony and unfortunately came back positive for that too BUT a friend of mine got a risk of 1:12 for her first and 1:20 for her second and both children were absolutely fine. When I was waiting for my Harmony results I heard a lot more good news stories than I did bad news stories.

There is a chance you will screen positive but hold on to your hope - you have 43 chances that your beautiful baby is fine and I've read of people with results from the NHS screening that are a lot worse than yours and everything was fine.

I have everything crossed for you.

Arnemamma · 26/09/2015 18:27

Thank you for all your kind words. It's been a trying few weeks.
Update in a nutshell:
While waiting for my NIPT results, I went to see Prof Nicolaides at the FMC. He repeated the NT and bloods, looked at soft markers and returned a much higher risk of 1:2. I had a CVS done there and then, because the wait for the NIPT would have simply agonising. And I was at rock bottom. In Nicolaides words: 'Have the CVS or go and get drunk until you hear back about the NIPT.'

He also diagnosed an AVSD.

CVS came back two days later positive for Trisomy 21. The baby is a boy, all the more heartbreaking because he's the fraternal twin of my 3 year old boy who was conceived via IVF at the same time.

UCH (an outstanding hospital) followed up the test with fetal cardiologists who actually dispute the AVSD. Though of course it's early to rule out heart or other organ defects.

They advised waiting for full karyotyping in case of placental mosaicism. That came back yesterday confirming the T21 DX.

It has been a heartbreaking time. I've read every study on Down Syndrome I can get my hands on, talked to doctors, watched documentaries, talked to God, friends, parents and searched the very depths of my spirit and soul.

In all my research, the recurring theme that haunts me is the child's later life. While I believe babyhood a and childhoods can be rich and rewarding for children with DS, the prospects for adult life look daunting, less supported, and potentially beset by dementia, deafness, loneliness and coping with parent's eventual death.

While that may seem a very bleak outlook, to me its a crucial consideration. Am I saddling this baby with a life that entails perhaps 20, 30 years of hardship just so I can have my precious third child?

To me, right now (and this is by no means a cut-and-dried decision), taking the decision to stop that potential suffering while the baby is still blissfully unaware seems like the most maternal thing to do. And it breaks my heart. Looking forward, I doubt I will ever recover from that decision. But whether I have to fight that demon for the rest of my life seems secondary to what I think is best for this little boy. I will cope, or at least have mechanisms to do so. The child may not.

This is a hugely personal decision of course, rife with inconsistent logic and doubts, but in the absence of a better way to make a decision, my instinct is the only thing I think I can trust.

For those who choose to carry on a T21 pregnancy, I think you're also doing the right thing.

Thank you for all your support and kindness so far. For whoever is also in the 1:44 camp, take heart: I was the 1. I hope you will all be the 43.

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Slowcoach40 · 26/09/2015 19:36

Hi Armemamma

I am so so sorry for your suffering. I have just gone through a termination for T21 and your post is so beautifully written and speaks to me. I have no words of wisdom to add to your very articulate words.... You have clearly done an amazing amount of research for your little boy and plunged the depths of your heart to make a decision.

Whatever your next steps are I wish you peace and a great deal of love to get you through this difficult time.

Xx

Arnemamma · 26/09/2015 19:57

Hi Slowcoach40,
I'm so sorry for your outcome too. There are so many layers of grief to get through right from the very first signals to the ultimate end. I hope you're finding strength along the way. I hope I do too. These babies are so precious, I know we're all just battling to the the right thing for them.
Being a grown up is super hard. Being a mum too, but also the best and most important job in the world, wherever we decide our babies must be.
Good luck to you.
With love
Xxxx

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WipsGlitter · 26/09/2015 23:20

I have a child with DS. Progress is made all the time. Yes there are moments of bleakness but no child comes with a risk free guarantee. If you'd like to pm me please do.

Arnemamma · 28/09/2015 20:47

Hello WipsGlitter, thanks for your response and congratulations on your LO.

As I scrutinise my own decision making, a helpful hand from a parent who knows is invaluable. The Down's Syndrome Association wouldn't put us in touch with parents until we'd made a decision to continue, and I totally see why.

Since there may be others in a similar position to me, I wonder if you'd mind me asking the questions publicly. By all means PM me if that doesn't work.

  • Do you have other children, and how has having a child with DS affected the time you spend with them?
  • Have you come across any health concerns that the doctors haven't been able to help with?
  • Are you able to work or are you a full time mum? (I only ask because I'm the breadwinner at home and we'd have trouble paying the mortgage if I quit.)
  • Have you received any support or advice from authorities about long term planning, or is it far too early?
  • How has DS differed from your expectations?

I appreciate that's a lot of probing so tell me to buzz off by all means. But any insight would be wonderful. I've read a lot of blogs by parents who are overjoyed by their kids (I totally understand) but I want to make sure I'm working with a realistic picture, neither coloured by ignorance nor the apparent take-it-in-their-stride blogs.

Many thanks

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WipsGlitter · 28/09/2015 22:06

Do you have other children, and how has having a child with DS affected the time you spend with them?

I have one older child. So my son with DS is 5 and my other son is 7. From the start we decided we were just going to get on with life. DS is not a big part of it, although I know families where it is a big part of their life and they do lots of DS related stuff and socialising. I prob do more with my older child as he does more activities and stuff.

Have you come across any health concerns that the doctors haven't been able to help with?

No. We were lucky, our son had no heart problems. We see his paediatrician once a year. GP for regular stuff eg chesty cold.

Are you able to work or are you a full time mum? (I only ask because I'm the breadwinner at home and we'd have trouble paying the mortgage if I quit.)

Yes I work full time in a stressful managerial job. He is now at school (special school) and then to an afterschool where he's everyone's pet.

Have you received any support or advice from authorities about long term planning, or is it far too early?

Too early!! One day at a time!

How has DS differed from your expectations?

Honestly? It's not as desperate and awful as I thought it would be. When he was born it was a very dark time. Fearful. Now I love him to bits, accept his limitations and get on with it.

I often say it was maybe easier than say a diagnosis of autism. We knew from day one it was going to be different, people mostly know and understand what it is, there are well established care pathways in place.

Hope that helps! Feel free to ask more!

KittyandTeal · 30/09/2015 10:41

I'm sorry you are going through such a tough time.

I know there are many posters here who have experience of having a baby with T21.

My dd2 was diagnosed with T18 (so much more life limiting) and we decided to have a tfmr. If you would like to ask questions about that process I am more than happy to answer. Whatever your decision it will be what's right for your family.

Arnemamma · 02/10/2015 08:44

Thank you WipsGlitter. That sounds like such a positive story and it's great to hear.
KittyandTeal, I'm so sorry about the T18. I was reading about it the other day. So desperately unfair. I hope you're recovering and might go on to have more children and happy pregnancies if that's in your plan.

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KittyandTeal · 02/10/2015 18:22

Thank you. We are getting there. I have learnt a lot about myself and am a better person now because of it (as cheesy and glib as that sounds)

We are ttc atm but having issues with cycle length so it is likely that dd1 will be an only. I'm slowly becoming ok with that.

I'll be thinking of you whatever decision you make, either one will be tough.

Arnemamma · 02/10/2015 20:47

Hang on in there KittyandTeal. You may yet have a bigger brood. Our DS1 was an only child for eight and a half years before DS2 arrived after a lucky go with IVF when I was 36. They're now nearly 4 and 12. One benefit of IVF is that you could ask for the embryos to be screened for chromosomal issues before you use them. Sadly I didn't take my own advice on this when I transferred DS3.
Good luck. On PM if you ever want IVF pointers. I've got the t-shirt. X

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KittyandTeal · 03/10/2015 08:08

Thanks. I have thought briefly about ivf but I don't think I could handle how invasive it is. I'm in a strange position where I would like another but I'm not desperate. I would be happy enough with dd1 growing up as an only I think.

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