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Antenatal tests

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Original poster

1 in five chance of problems

58 replies

FiftyShadesOfGreen4205 · 03/03/2015 15:17

Hello
After finding a NT of 4.1mm on Friday, my blood test has just come back and revealed my combined risk is one in five for DS.

I have gone from being excited to finally tell people to feeling horrible and like I'm in some awful purgatory.

The midwife said the blood test actually seems not too bad but the high risk is based mainly on the NT.

I'm so, so heartbroken. I know nothing is certain as yet and I have elected to have the CVS so that will be another hard wait. But I'm preparing for bad news.

I feel guilty, I feel heartbroken.

OP posts:

Rightokthen · 03/03/2015 15:37

Very sorry you're in this situation but it means 4 in 5 chance of being ok

WipsGlitter · 03/03/2015 15:49

I'm sure it must be very hard.

I have a child with downs syndrome and it's not the terror it used to be, things have really moved on.

If you have any questions please ask.

KittyandTeal · 03/03/2015 17:06

I know it must feel like your world is falling apart right now.

It is especially hard in that period when your waiting for results and just don't know.

Like pp have said, ds is very varied. Even if your dc has ds it may not be so bad.

I have no experience of having a child with ds but lots of wonderful posters on here do.

I do have experience of the testing process and now getting good news. Please feel free to pm me or ask any questions here if that will help.

Swifey · 03/03/2015 17:13

There is a test called the Nifty test, that will take your blood and test for (nearly) definitive for downs and two other syndromes. It is expensive, but so worth it. I think there are clinics in Manchester, Hull, London amd Cardiff. It is just a scan and a blood test, no risk to you or baby at all. I have had it done, so feel free to ask anything. Best of luck x

Original poster

FiftyShadesOfGreen4205 · 03/03/2015 17:57

Thank you everyone.

Wips I know that attitudes have thankfully moved on regarding DS.

A lot of my fear is because I just don't know, and if the cvs shows DS, I don't know what to do from there. I have so many conflicting thoughts throughout the day. I am also worried about associated health problems.

OP posts:

KittyandTeal · 03/03/2015 19:31

Have you asked your hospital for an appointment with a fetal medicine specialist? They will be able to talk to you about the issues a baby with ds will face. They will also be able to give you scans and give you a bit of a better idea of your baby's issues if they do have ds (if you decide to continue)

Arc are amazing, they will be able to give you some answers that we can't.

LMLytton · 03/03/2015 19:43

I have been where you Are now, but slightly worse. I had a 1 in 3 with a NT of 4.6mm.

I had an amino though I had decided to carry on regardless.

It came back all clear and my little boy is now 3.5 and entirely chromosomally normal.

Not data I know, but I found these stories vaguely reassuring.

WipsGlitter · 03/03/2015 20:21

I understand. Wait and see what the cvs says but it's my understanding that the medical professionals expect you to opt for a termination so make sure you get time to think.

My son has no heart problems if that's the thing you're mist worried about, of the five mums I know with kids with ds only one has heart problems.

Original poster

FiftyShadesOfGreen4205 · 03/03/2015 22:06

Thank you. Yes Wips I am especially concerned about that, I'm glad to hear your son does not have heart problems. I guess the worry is just piling up.

There is some good advice here- I really appreciate it at this time. I am touched you are sharing your own experiences with me.

I'm going to try and sleep now. What a dreadful five days it's been.

OP posts:

KittyandTeal · 04/03/2015 08:40

I have to say wips that my experience was different.

Our dd2 had Edwards so completely incompatible with life, if she was born alive she would have needed a very complex care plan to keep her comfortable for as long as she lived (not very long but very expensive for the nhs)

At that point we were told that whatever decision we made we would be supported. We had already made the decision to terminate but we're asked lots if we had had enough time to decide and think properly.

Not all medical staff will encourage or expect you to terminate especially in the case of ds which is compatible with life in many cases.

Like I said, please make sure you make the decision for you not anyone else. X

Original poster

FiftyShadesOfGreen4205 · 05/03/2015 16:00

Kitty

I had cvs today.
Second scan has shown NT decreased to 2.8. So that's quite a lot in six days. It obviously doesn't mean we are going to get a clear result but it's better than an increase.

OP posts:

KittyandTeal · 05/03/2015 16:36

That's great news. Things are going in the right direction at least.

I hope the cvs was ok, I'm presuming it's similar to an amino and just a little weird and uncomfortable rather than painful.

Do you know how long until your results? I know the trisomies can usually be reported before other genetic conditions so I hope you don't have to wait too long.

KittyandTeal · 05/03/2015 16:37

That's great news. Things are going in the right direction at least.

I hope the cvs was ok, I'm presuming it's similar to an amino and just a little weird and uncomfortable rather than painful.

Do you know how long until your results? I know the trisomies can usually be reported before other genetic conditions so I hope you don't have to wait too long.

Original poster

FiftyShadesOfGreen4205 · 05/03/2015 16:48

Thank you, Kitty.

It was okay- uncomfortable, weird and painful in parts but over quickly and bearable. I imagine similar to amnio in that they jam a huge bastard of a needle in your uterus!

Results on Monday for the trisomy trio and then about ten days for the others. I can't fault the doctors, midwifes and consultants. If this horrible experience has taught me anything it's how amazing our NHS is.

Thank you for the support on this thread xx

OP posts:

KittyandTeal · 05/03/2015 20:02

Yep sounds like an amnio :)

I feel exactly the same way about the NHS. I know some people that have had terrible experiences but all the staff I have come across have made a truly horrendous situation just a little bit more bearable.

The midwife who delivered dd2 came to see me when we arrived and just said 'it's rubbish you're here, it's rubbish you're going through this but I'm here to do whatever I can to make it a little bit easier' and she did, she was amazing and managed to give me some positive memories of the 19 hours I got with dd2. She was amazing.

I won't ever forget the kindness and professionalism of the medical staff who helped me. They must have been rushed off their feet but still made me feel like they were dealing with just me and no one else. It really moved me to think of the kindness I've come across during this time.

Original poster

FiftyShadesOfGreen4205 · 06/03/2015 07:18

Oh Kitty I'm so sad you had to go through that. It's not fair. None of it is. A positive experience with the professionals at times like this does make such a difference.

I think when the shit hits the fan, the NHS comes into its own.

OP posts:

KittyandTeal · 06/03/2015 17:02

No it's not fair at all. I have very dark times but in my more positive times it makes me realise that I am grateful for everything I do have.

If I could change things and make it so she didn't have edwards and I was still pregnant I would. If I could go back and stop myself getting pregnant so I wouldn't have to go through it but not have had my baby at all I wouldn't.

I'm really keeping my fingers crossed for you x

Original poster

FiftyShadesOfGreen4205 · 07/03/2015 17:25

That is a very moving statement, and I understand why you feel that way. I'm so touched that you come on here and share your experience to help others. I certainly know your posts have made me feel less alone.

There is such a feeling of helplessness with antenatal problems. I can control many things in my life but not this. It feels crushing at this stage.

I called the FM midwife to ask about the disparity in the two NT measurements. She seemed quite surprised then defensive...but said 'different people get different results'. Well, I presumed the tests were standardised so...

Anyway, the sonographer at 12 wk scan told me NT was 4.1. However she wrote 4.5 on my paperwork. This is a difference that I feel should have been noticed by her.

The consultant at UCHL got a reading of 2.8 six days later. That's a big disparity. I wonder if anyone else experienced similar??

Anyway, of course I could still receive bad news on Monday (and 2.8 is still on the high side really) but the hospital said they will review my initial scan.

OP posts:

LMLytton · 07/03/2015 17:29

I had something very similar.

It was 4.6 and then 6 days later it was 2.85 with a different sonographer.

They were also a bit defensive but it was apparently a good sign it had gone down.

Of course if the second scan had been the only scan I had I would have been none the wiser...

Original poster

FiftyShadesOfGreen4205 · 07/03/2015 17:35

Do you mind me asking if you had a 'good' outcome LM?

I guess down is better than up!

But only sure thing is I will know very soon anyway with the cvs

OP posts:

Original poster

FiftyShadesOfGreen4205 · 07/03/2015 17:42

Oh sorry! I you mentioned earlier that you had good news!

Sorry I have not bloody slept in a bloody week and all I can eat is chocolate and pickled onions. Fart city

OP posts:

Original poster

FiftyShadesOfGreen4205 · 07/03/2015 17:45

I've just received a mahoosive bouquet from my friend. Oh I'm off again. Sob.

OP posts:

SirVixofVixHall · 07/03/2015 17:47

The consultants at UCH really know their stuff, it sounds very postive that the second result is so much lower. Hoping it is good news tomorrow, and also agreeing that Down's is not a tragedy, I know a gorgeous little girl with Downs who is at mainstream primary. Seeing her with her siblings there really isn't much difference to notice, she is just a sweet little girl, in a lovely group of siblings.

Original poster

FiftyShadesOfGreen4205 · 07/03/2015 17:56

It's not so much DS in and of itself, but the associated health problems that worry me so much. I know everyone with DS is an individual and people without it also can have a myriad of health problems, but that is just where my fear lies.

OP posts:

Artistic · 07/03/2015 20:26

If you are in doubt you could go for a Harmony test which is a blood test with 99% accuracy of result.

Sorry you are going through this, and I hope the result you get is what you hope for.

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