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Original poster

High risk screening - Normal NT but high hCG, Low PAPP-A

453 replies

SoozyWoozy · 15/01/2012 21:06

Hello everyone,
I'm new to this board, so apologies if I'm posting in the wrong place!

I'm 13w pregnant with my 4th baby (6th pregnancy, first two were ectopic & mc). My other pregnancies went without a hitch, other than the dreaded SPD.

With the other 3 I just had a Nuchal as screening, and all were very low risk. My hospital now does combined screening so this time I had bloods done as well. My scan was apparently OK and the Nuchal measurement was within normal range but my bloods made me high risk with a 1:78 chance of a baby with Downs / other Trisomies. My BhCG was double what it should be and my PAPP-A was half, apparently can be an indication of trisomies, but even with no chromosome problems this can lead to other problems in pregnancy such as IUGR, preeclampsia to mention just a couple!

I guess what I would like to know is this - has anyone been in a similar situation and come out the other side?! I have an amnio booked for 16w, but the waiting is driving me crazy and giving me too much time to think about the what ifs and if I am doing the right thing having the amnio at all!

Any words of wisdom would be gratefully received.

Suzy

OP posts:
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Amandabg1983 · 20/02/2020 03:44

It’s been comforting reading some of your posts.
This is my first pregnancy and I’m 36. At our 8 week US, we found out we had vanishing identical twins. One had stopped growing at about 7 weeks and we could detect a heartbeat.
We went back for our NT at 12w3d and the sonography said measurements were good (we even got to see our little bean moving all over the place, and it had hiccups - so cute)

NT measurements were fine at 1.1, but our blood work has put us at high risk for Downs. They said 1 in 63.
It was: Hcg - 2.81 MoM, PAPP-A - .47 MoM, and AFP - 1.71 MoM

Because of the vanishing twin, we’ve opted to forgo any other blood work, as there is concern the passed twin’s dna could confound the results.
Instead, we have scheduled an amnio for 16 weeks. The waiting might just kill me.

We’re so concerned because of the vanishing twin... and not just a normal twin, but IDENTICAL twin. We’ve been told that if the passed twin had chromosomal abnormalities then so does our living twin. And if the passed twin didn’t die from chromosomal abnormalities, then what could have caused it?

Sadly, I’ve been unable to find any similar situations out there with a vanished identical twin. I have so much anxiety.

NoCallerID · 20/02/2020 22:59

Hi, I've just been reading through lots of posts and comments here...

We had our NIPT come back positive for T21 this week, same day I also got the results from then nhs test with 1/40 HCG >4 and Papp-a 0.3, NT at 11+3 was 1.9mm. We were referred for a CVS which I had yesterday. At the scan it was confirmed that the baby also has omphalocele which was very visible at the 12 weeks scan at 11+3 but we were told to just come back in two weeks to check whether it has closed. Coincidentally I had come across an article a few days before the scan and I read that in around 40% cases this is linked to chromosomal abnormalities so although my world shattered when I got the calls Monday I did have a feeling and was expecting the call.
I don't seem to find anyone on here (or maybe just didn't read properly) where they had a high risk NHS test, a positive NIPT and they still ended up with an all clear or mosaic result from the CVS?
We're not clinging onto hope and have made the decision to TFMR once we have the result from the CVS but I'm just wondering if there is a realistic possibility of getting a mosaic result back from it. The consultant kept saying this to us - before she had seen the omphalocele. After this her attitude changed a little and we felt she was a bit more understanding....
not sure what I'm expecting from this post. I guess I'm just lost right now.

Chefwifelife · 24/02/2020 18:50

Just a little update that fetal medicine called with good news. Negative on further testing for trisomies.

SarahD19 · 24/02/2020 19:02

@Chefwifelife so happy for you!! That is fantastic news xx

NoCallerID · 24/02/2020 19:27

@Chefwifelife amazing news!!! So happy for you!

Chefwifelife · 28/02/2020 06:38

Thanks everyone. @NoCallerID any news?

NoCallerID · 28/02/2020 07:42

Yes. Had the call on Tuesday. Positive for T21, as expected after the NIPT.
Had the tablet on Wednesday and going in for the TMFR today...

SarahD19 · 28/02/2020 08:20

@NoCallerID so sorry to hear your news. Sending you lots of love xx

NoCallerID · 28/02/2020 08:32

@SarahD19 thank you x

mjas · 28/02/2020 17:30

Hi @Amandabg1983, although rare, there are cases of monozygotic (so called identical) twins discordant for trisomies described. The exact mechanisms how this happens are not completely clear, but it may happen if one twin looses an "extra" chromosome very early in the development. Sometimes such trisomy "rescues" happen in the absense of twin as well, and in most cases no one knows about it.
It is not common, but not impossible. Hope your amnio goes well.

Annie5213 · 03/04/2020 20:02

Hi

I wonder if anyone can help me with some reassurance. I had a call today to say I was high risk for t21 1:140 it sounded really bad but then she went on to say this is only a 0.7% chance of anything bad and actually 99.3% it will all be ok.

My nt was 2.8 (higher end of normal but under 3.5)
Hcg: 1.28 slightly elevated.
Papp-a: 1.5 slightly elevated and usually lower with t21

What does anyone think of these results. I’m really worried and have opted for the NIPT test privately. How likely will it be to come back ok?

NoCallerID · 03/04/2020 20:42

@Annie5213 sorry you're finding yourself in this situation. From my experience this isn't looking bad. I suppose they haven't mentioned any soft markers like nasal bone? Obviously I can't tell you that your NIPT will come back low risk but with my T21 baby the hormone levels were above 4 for the HCG and 0.3 I think for the Papp-A.
There's a lot of hope for you there!! Got everything crossed for you!

Annie5213 · 03/04/2020 20:55

Thanks for your reply. I’m needing any reassurance I can get. I’ve read lots about t21 having that picture of higher hcg and low Papp-a and mine doesn’t follow that picture my Papp-a is elevated slightly. And the hcg isn’t even that much over. I don’t understand why I’m now in that category.
Plus when your told it’s only a 0.7% chance it seems so low anyway. I just don’t know if I should be worried.

Laurenm1995 · 04/04/2020 23:25

Hello,
After some advice or anyone who has gone through the same thing.

My screening has came back 1:5 chance of Edwards and patau syndrome, I am upset and so worry as all my scans there has been no concerns I am 14 weeks pregnant. My NT measurement was 1.66 and Pappa blood test came back low 0.44. I have refused cvs due to chance of miscarriage my midwife told me not to get harmony as it is the same accuracy as nhs testing.

I am now waiting for my next scan I had one last night privately and nothing was concerning, just don’t know if I’m doing the right thing waiting but don’t wanna risk a miscarriage.

Thankyou

Amandabg1983 · 05/04/2020 03:15

@Laurenm1995 The only way to be certain, from my understanding, is an amnio. The risk of miscarriage is very low (our doctor said 1/400 at their facility). We were high risk for Downs (1/63), and it was worth it for us to know. Best of luck to you!

Amandabg1983 · 05/04/2020 03:23

@Annie5213
I was told I was high risk (1/63) KO for T21 based on my bloodwork. The NT measurement was fine, but my HCG (2.8) and PAPP-A (.47) was off. On top of that, I’m 36, which automatically increased my risk.
However, we had an amnio and all is well! Perhaps your age has something to do with it?

Paranoidkaty · 05/04/2020 07:02

I posted in February about my high hcg >4 and my pappa 0.6. NT was 2mm.
Soft markers on12w scan were fine.
NIPT came back low risk

Annie5213 · 05/04/2020 09:06

@Amandabg1983

I do think my age has something to do with it plus the higher end of normal Nuchal fold at 2.8. My Papp-a was slightly higher at 1.5 yet I can’t find any info on here about that. My odds are 1/140 and when you say that as a 99.3% chance it will all be fine i wonder why I am worrying but it’s that high risk category which is really upsetting me. I have booked the NIPT next week.

Annie5213 · 05/04/2020 09:11

@Laurenm1995
I would def def try the NIPT first. I rang a private clinic and the woman I spoke to was brilliant she explained they use a lot more markers to generate the result and also the blood work looks at the genetics of the baby. She said she would go as far to say it’s 99.9% accurate especially for t21!

Amandabg1983 · 17/04/2020 18:35

@Paranoidkaty That's great news! Thank goodness!

@Annie5213 Any news on your NIPT? Fingers crossed all is well.

Annie5213 · 17/04/2020 18:38

It came back low risk!! So really pleased

NoCallerID · 17/04/2020 19:50

@Annie5213 amazing news!!! Congratulations!

Liveforholidays · 17/04/2020 20:12

@Paranoidkaty just thought I'd let you know I had my 34 week growth scan today.. Baby is measuring along the 10th centile which is the same as at 28 weeks so following own growth line. Everything looked good with scan and I got a lovely photo given to me as my husband couldn't attend. Hope you're doing OK in these challenging times.

Paranoidkaty · 17/04/2020 20:24

@liveforholidays that’s great news! I’d forgotten all about the risk until this week again, it comes and goes but now I’m feeling baby moving it just makes everything feel all ok!

Liveforholidays · 17/04/2020 20:29

@Paranoidkaty that's good. It comes and goes with me too, especially this week with the scan coming up.