Devastated 1:4 chance of downs

[disconnecteddrifter]

I have had 6 consecutive miscarriages and finally got to 13 weeks at the age of 42. Combined test nt 3.8, hcg 1.5, papp a 0.5. This seems certain for downs syndrome in all three areas of the test. I'm going for cvs but it's not looking good. It's stupid to hope isnt it?

I understand that more than anything. I had one child already at the time and most of my agony was about him and if his life would be set on a different course and if we were being selfish. I think you are doing the right thing. You need to know beyond doubt. I am sending you strength and will be thinking of you.

My child was given a one in five chance of having a chromosonal disorder due to bloods (can't remember the levels) and an NT of 4.7. They also suspected she would have cardiac problems. I kept repeating to myself that it was a four out of five chance of not having a chromosonal disorder.

The first set of results were back just over 24 hours after the CVS and ruled out the three major trisomies. People don't always realise that the blood results and high nt aren't just an indicator of downs. Edwards and Patous were the ones that haunted me during the wait. She had neither a chromosonal disorder nor a cardiac one and is a cheeky, gorgeous and loving little girl.

One in four chance of a trisomy means a three in four chance of it being nothing. Be kind to yourself while you wait. I know the test itself is probably the least of your worries right now but it isn't as bad as you expect. I was advised to go home and take things very easy for a few days. From the blood results/scan through to the results, all the medical professionals were truly brilliant. You will be in a kind of limbo while you wait. It feels like the time just drags so slowly.

I just want to add something to my initial message....

@disconnecteddrifter when my mum was preggers with me. I was high risk for downs! And she had to have the CVS back in the 80s. I think her odds were the same as yours!

I know what you’re going through I remember it clearly.

“I remember it clearly” is referring to my DS being high risk!

Not referring to me remembering being in utero oh my days!!

Have you (or DH if all pregnancies have been with him) ever been tested for a chromosomal translocation at all? Seems unlikely if your lost babies have been chromosomally normal, but can be a thing. DH has one and we have multiple miscarriages and then a higher than usual chance of other genetic conditions.

But we do have DS2 who is perfectly healthy and gorgeous.

I was 1:6 with ds2 with no scan markers, had an amino and the all clear and he is now a very healthy nt 9 year old. Wishing you all the luck in the world tomorrow.

@hellofromcornwall that made me laugh even at this time. We havent been tested - that would have been the next stage if the fetal karyotyping had shown any abnormalities.

Good luck today

Thank you and thanks to everyone. I had some sleep last night and dont have to work so feeling much better. Will update later

Wishing the best possible news for you

Another hand hold from me. Good that you don't have to go into work :)

Good look OP. I just wanted to say, you are only 42, whatever happens, you can do it.

No parent plans for a disabled child but it doesn't mean you can't deal with it. All children have needs which challenge us to the extreme and I don't think a child with downs syndrome would be any different in that way.

Sorry, I meant good luck!

Hope today was ok, been thinking of you. Did they recheck the nt measurement?

Thank you. They checked it still 3.8 no other markers. However they coiodnt do the cvs as my placenta is low and I have to wait two weeks. I dont think mentally I can go on for two weeks ans not know. I'm in a mess at the fmu

Hi OP

Oh this is so awful for you 💐

We had NT of 4.7!

We had CVS - We were told less than 1% miscarriage risk at our hospital and many of those were babies who wouldn't have made it to term.

Came back clear for downs, Edwards and Pateaus (sp?) and they did extra investigation to check no heart conditions I
Also had extra check ups with fetal medicine.

My son is perfectly healthy.

It's an awful time truly. X

I have no useful information to share 😣but wish you the best of luck. Try and relax and not panic, easier said than done I know xx

I just saw your update... Oh my goodness that's hell having to wait

I am so sorry you have to wait op. Not knowing is hell. When I had to wait it out I did pregnancy yoga, tried to come up with three things every night that I was grateful for and reiterated mantas in my head when my thoughts were spinning. The what if this, what if that - I would say "I will MAKE it ok." I also was so scared I literally had the runs (tmi).

Randomly, I also used to silence the horror by saying "we will walk in fields of gold." Not sure that makes sense now but it did at the time. You just need to take comfort where you find it. Words, actions, people. You will get through this.

Hope. Breathe. Just get through each day. That's all you have to do for now. Whatever happens "you will make this ok."

So sorry to hear you have an agonising wait. Our baby had an NT measurement of 4.6 and at 13 weeks we were told to wait 4 weeks for an amnio, and then at 17 they couldn’t do the amnio due to the membranes not having fused so we were sent away for another week. The wait is just awful and such a tough time, but you will get through it, it’s amazing how you find strength at these times that you didn’t even know you had, look after yourself as best you can and let others look after you too x

God I dont know how you did it @notinthestarsigns I am barely coping dont know how I will feel when the baby kicks etc plus I'm a teacher and have to go back to school soon. Already taken off a lot of time due to the 6 miscarriages as I needed to have operations for two of them.
I looked at the report and heatrate was 172bpm and google suggests this rate is significant for congenital heart disease and down syndrome with heart disease. It sounds awful but I just want this all to be over. It's such a struggle.

Just to give you a little bit of hope, our odds were 1:2 and the cvs results were clear

So sorry you have to wait longer, it's such an awful wait without it taking longer . It might be best being back at work, it might help take your mind off it. I went back to work whilst waiting for my harmony results and really appreciated the distraction (although I totally appreciate people deal with things differently)

Thank you. I'm worried about having to take time off work for tests etc and if pregnancy continues I will have extra appointments.it is going to be difficult in school with the new normal and I dpnt want to be taking time off or feeling mentally below par when I have 150 students a day wanting reassurance and consistency. I suppose it doesnf sound like a big deal but it's making me stressed to think about it. I just wish I knew.