High risk blood results

(18 Posts)
Roseandwine Sun 21-Aug-16 06:01:13

Am currently 13 weeks pg and g
have just received the results of my private blood screening which has come back as 'High risk' for trisomy 21, (a 1 in 28 probability).

I am very, very worried. This pregnancy comes after a number of miscarriages, and I suppose I thought after so much heartbreak that this would be my 'happy ever after'.

With this result my next move is amniocentesis - with its 1% chance of miscarriage, but I can't have this until week 25, so 2 more weeks of mental torture. I would choose amnio over CVS because the tissue of the placenta (which is tested in CVS) can at times be different to the foetus, and as amnio tests the fluid around the baby it is 100% correct information. This is what I need because of the difficult decisions that would be made on the basis of those results.

I am hoping against hope that someone out there can tell me that despite high odds that their amniocentesis showed a negative result, despite their harmony/nifty - private dna blood screening, showing a high probability. (Not the NHS tests which are more usually inaccurate being based upon scan measurements and horemones blood count.)

I seem to have signed this long awaited and, up until now, easy pregnancy off already, and what I need right now is hope!

OP’s posts: |
Bumblebee84 Sat 05-Nov-16 03:34:58

Hi roseandwine, I am currently in the same boat as you were. I wondered how things turned out for you?
Needless to say I am going out of my mind!

SarahOoo Sat 05-Nov-16 12:50:36

Hi Bumblebee, I was sad to see RoseandWine didn't get a reply. Hope all was well.

I went through this early October, we opted for the CVS (I don't believe the info above is accurate regarding the CVS vs amnio).

It was very scary and nerve wracking, our odds were 1:85 for T21 and 1:78 for T13/18.

We had the all clear for the initial results and the full karyotype but it was a strange few weeks.

If you need any help, advice or support please let me know via this thread.

Bumblebee84 Sat 05-Nov-16 21:35:28

Hi Sarah, thank you, it would be great to talk to someone. The above is correct, cvs does take placenta DNA and is not in fact the exact feral. I did have this explained by our specialist.
I have just received my full Iona results and am struggling to understand them.
I'm terrified of my amnio but my head is spinning with confusion with all of this. 😔

SarahOoo Mon 07-Nov-16 22:51:10

Hi Bublebee, apologies for the delay, got the dreaded norovirus this weekend so been in hospital with a drip! Home now though!

With the CVS they will only test if they have enough fetal sample found, if they don't get this then it needs to be repeated or wait to have the amnio.

What did your NIPT Iona test say? I've done a fair bit of research with my CVS results but had thek explained to me before I got the paper version.

Nicketynac Mon 07-Nov-16 22:58:48

We were 1in 12 chance (nuchal fold not checked due to baby's position so based on blood test alone) and amnio was negative.

Bumblebee84 Thu 10-Nov-16 08:35:56

Hi Sarah, sorry you were so poorly. Glad you are better now though.
My Iona were >100,000,00:1 and 95%, however I went for the amnio last night and the specialist looked really puzzled when looking at my results. I was told to ignore them and stick with the NHS 1:11 ratio.
The scan although baby was still very small only being 15.1 weeks has been reported as healthy looking with no abnormalities seen.
It all makes your head spin! Then at the end the midwife said to prepare myself for the worst possible outcome. So confused!


Bumblebee84 Thu 10-Nov-16 08:38:05

I am am trying to stay positive but keep getting such conflicting responses from people. Glad to hear you got the all clear. 😊

SarahOoo Thu 10-Nov-16 14:09:16

I am sorry you're still in this limbo time, I found it so hard but we tried to be level headed and decided we were a team in it together.

I'm so appalled the midwife said that to you, it's exactly what anyone in our situation will do but you don't need that being said to you.

Those odds from the Iona are great so please try to remain with your head above water regarding what they said about only taking the NHS screening into consideration. As far as I know the NIPT tests are more accurate than then the NHS screening, the NHS screenings are a first stage, the NIPT a second stage and then the amnio or CVS a diagnostic.

Keep in touch and if you want a rant then let me know 😊

Bumblebee84 Thu 10-Nov-16 14:53:31

The Iona were explained to us last night by the specialist that the risk means our baby is most likely affected.
As the t13 and t18 were 1:100,000,000
The t21 was the other way around with a 95% positive.
I just need to know as limbo is hell for all people in this position.

SarahOoo Thu 10-Nov-16 15:13:16

Apologies, I read that as 95% not a trisonomy. Have you discussed together what you will do if confirmed as T21? We're all here to chat to as well.

Bumblebee84 Thu 10-Nov-16 16:01:18

That's ok, we have. We're still not sure to be honest. I'm hoping it's all in my placenta due to the fact all my babies were tiny and I was given high risk 14 years ago with my daughter and she's absolutely fine. It's very hard especially when you have to factor in how it affects your other young children.

SarahOoo Thu 10-Nov-16 20:58:37

Yes it is very hard indeed, please let me know how you get on xx

Bumblebee84 Sun 29-Jan-17 03:13:51

Amnio was inconclusive with low level mosaic and grown cells showing only normal. At worse my baby has less than 20% mosaic t21.
But they can't rule out placental contamination as the same was also contaminated with my blood and as she's a little girl our cells are very alike.
All in all I'm 27 weeks still in limbo but awaiting my daughters delivery.

Bumblebee84 Sun 29-Jan-17 03:14:33

Oh and all scams are perfect! Measuring perfect with no heart or organ defects.

SarahOoo Sun 29-Jan-17 09:47:14

I'm glad the scans are all good Bumblebee84. Limbo is always a hard time but you seem to be doing well 😊 The very best of luck for the rest of your pregnancy...we are only two weeks apart!

Bumblebee84 Sun 29-Jan-17 12:11:50

Oh wow, are you ahead or behind me? I have just excepted what will be will be now, we've been through so many emotions.
I can't help but feel in my heart that I'd know if something wasn't right. I just can't help but think all is ok. 😊

SarahOoo Sun 29-Jan-17 19:38:16

I'm 2 weeks ahead of you so 29 weeks now 😊 Remain positive and you will deal whatever life throws at you....the same as us all 😊

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