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

[SoozyWoozy]

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

i hope everyone is waiting for results is coping. I had my Harmony test 13 days ago (9 working days - they say it takes between 5-10 working days for the results) through the NHS and still haven't had the results. Feeling so anxious and sick and I shit myself every time the phone rings. I wish i'd had the test privately as i would have had the results last week - and i'm now 14.5weeks so time is running away if i need further testing :(

Hi @bunnypenny, I hope you're doing okay. I just got my NIPT results today after a weeks wait so I know how you are feeling. In Scotland they only run the tests on a Friday (at my hospital they only take bloods on Monday), and then said they would call the following Monday - today. I was really anxious all day and when there wasn't a phone call by 3.50 my husband ended up phoning for me to chase it up. Anyway, the good news for us is that we got very low chance (originally 1 in 24 for Downs) so I can relax for a few weeks!

I hope the rest of you waiting are doing okay, it's such a stressful time
I found this thread one of the most reassuring pages all my googling led to!

I had my amnio on Thursday and had my initial results today, all clear! The heart scan was also normal.
It's been an awful time, I have let it really engulf me. Im pleased I did the amnio. Now I've announced the pregnancy I've heard a number of my friends have had them with no problems.
It feels like it's only happening to you. I found it so hard to talk to anyone but this test is performed more than you think and these issues crop up all the time. Good luck to anyone going through this. Its hard xx

@OM82 that’s great news about your results - congratulations, wishing you a safe rest of pregnancy. Your measurements weren’t far off mine (and I am 1 in 26 for DS) so I hope my news (when it eventually comes) is as optimistic as yours.

@Fs252 you didn’t have long to wait at all for your wonderful results! Congratulations - enjoy your pregnancy now you can breathe easier!

I’m hoping I’ll hear tomorrow.

@Fs252
I'm so happy for you ☺️. I hope you can really get back to enjoying this amazing experience now xx
I went ahead with my CVS last Thursday, still waiting on our results 🙏🏻 it's been so tough. Hoping for happy news.

@Herc2021 I'm sure you will get your good news too! It's such a relief. We'll done for going through with it. It's a really hard decision but I'm pleased I did it ❤

i've just called up and finally been given the NIPT results - everything is low risk! So relieved (the results were dated 14 June so i'm not sure why it's taken so long for me to receive them - i've had to chase several times).

question: based on this, is there any point in going for a diagnostic test privately? i've read about NIPT false negatives - should i put that out my mind and just be thankful that the NIPT came back low risk?

@Fs252
Unfortunately we got a confirmed diagnosis of DS yesterday. It's been the most torturous week waiting and yesterday was just the worst day I've ever had. We are crushed by this news :(

@fs252 oh my god darling, I'm so sorry. I can't believe it.
Sometimes life is an unbelieveable a-hole, no rhyme or reason or explanation. But you can face this. Stand up to it. Whatever you decide to do will be the right decision.
Wishing you strength and love to you and your family 💕

@Herc2021 I replied to your message but tagged myself instead of you. I was in a fluster. Hopefully you can see it xx

[quote Herc2021]@Fs252
Unfortunately we got a confirmed diagnosis of DS yesterday. It's been the most torturous week waiting and yesterday was just the worst day I've ever had. We are crushed by this news :( [/quote]
It may not have been the news you expected or wanted, but please don’t see it as a tragedy. I learnt that my daughter has Down’s syndrome postnatally and can completely relate to feeling crushed when being told, it felt so scary and not to mention unexpected (we were given a 1:1900 chance, so it wasn’t even on my radar). However my daughter is an absolute joy. She took a little while longer doing things - sat at 8 months, crawled at 14 months, started to walk just before she was 3 - but she is doing so well, will be 6 next month and is in reception at a mainstream school: she can count to 20, recognises the letters of the alphabet and is doing really well with her 1, 2, 3 and Away reading scheme. She is Beugung to use longer sentences, has a wicked sense of humour and a brilliant relationship with her little sister. She has been lucky enough to have no health issues, but even her little friends who had to have heart surgery are doing brilliantly a few years down the line.

Do have a look at the resources on www.downs-syndrome.org.uk/ - both their info for new parents and their lists of local support groups are super useful and www.positiveaboutdownsyndrome.co.uk includes stories and experiences from all kinds of families. On Facebook, Future of Down’s is a fantastic support group and Don’t be Sorry is an uplifting but honest blog about a little boy with DS called Oscar and his siblings and family life. Take care, wherever the future takes you 💐

Hi,

I had the call yesterday to say my DS risk was 1:11. I was devastated as a healthy, what I thought 'young' person with no health issues. This is my first baby and since I did the 1st pregnancy test I've had a sinking feeling about something going wrong. My results from the screening are as follows:

NT 1.8
hCGb 4.98 (MoM)
PAPP-A 0.34 (MoM)
Age 31

I am booked in to have the CVS tomorrow and so nervous. My gut tells me everything is ok with the baby (although that isn't a reliable or scientific measure) but I still have this feeling of dread and inability to be excited or really connected to this pregnancy.

This thread has been a real source of security for me. We were going to have the NIPT this morning and then changed at the last minute in favour of the CVS. I really hope it's the right decision.

@Newmumnats I think you're doing the right thing. I am pleased I did my amnio so now I know for sure. Be brave. This is a horrible time, and I feel for you. Stay positive and keep strong. You'll get through it xx

Thank you @Fs252. I’m so nervous and feel like I’m being selfish when the NIPT wouldn’t risk the baby at all but as an anxious person, I think I need a certain result. I’m dreading the next few days of waiting.

@Newmumnats although hard to get your head around, cvs is a low risk procedure as is an amnio. I'm still waiting for my full results so not totally out of the woods myself.

Thanks @Fs252. Fingers crossed all is well with the rest of your results

Hey so I wanted to update everyone in case it can help.
I had a papp-a of 0.43 and an HCG of 2.7 (I believe) my NT measurement was 1.4. I was 34 at the time but would be 35 when delivering. I was given a 1/57 chance of Down syndrome.
My son was born 5 days ago and does not have Down syndrome. There was also no placental issues during the pregnancy. I was induced at 40+2 and my boy was born at 8lbs 3 oz. even after getting two different NIPT tests done that showed no chromosomal abnormalities that stupid screening ruined my whole pregnancy.
I think for anyone over 30 they should skip the blood work associated with the nuchal ultrasound and go straight for the NIPT.

Good luck everyone.

That's great news @brit86. I had high risk results as well, then low risk from nipt but with hindsight (I really didn't know much about how it worked, or the stats just based on age - I'm 39 and did ivf) I would have definitely done nipt, even privately, earlier to save the stress.

I feel if you're likely to be high risk based on your age, and your board dies nipt anyway for this situation, it makes total sense for them to do this in the first place!

Yes, I have to say if I find myself pregnant again I’ll go straight to the NIPT, as the combined test would throw up falsely high chance results purely on the basis of my age and my having a child with DS....when I did this with my second daughter the 12 week scan became just a dating scan, as they didn’t think it was worth doing the NT measurement, so I never got to find out what the combined results for Jessie would have been.

I just wanted to add my experience as someone who has been googling like crazy for similar posts in the last two weeks to hopefully give a bit of hope to anyone out there in a similar position.

My combined screening came back as 1 in 5 for downs… NT was only 1.5 but bloods were crazy. HCG at 5.65 and Papp-a at 0.18… got the call yesterday from the NIPT test as ‘highly unlikely’ for downs. Massive relief for us. Good luck to anyone waiting on these results in future, it’s a horrible time x

To conclude my story also, we ended up having an amniocentesis which came back clear, as well as the full microarray.
We were given 1 in 5 for downs also, my pappa-a was 9999, my hcg was 2100, the nt was 3.5mm, I'm 40 years old.
It was a horrible time, and I wish we didn't have to experience it, but since having the amnio and knowing for sure there aren't any serious issues, I have really enjoyed the pregnancy since then.
Anyone thinking about an amniocentesis, it was painless and over so quickly.
Wishing strength to anyone going through this issue x

Hi, new on forums but wanted to comment as I found this thread so helpful after receiving a high risk result in the initial NHS screening - 1 in 8 chance for Down’s syndrome T21.

We were very surprised by the result, as it is our first baby & I would not consider myself an older mother (33 - will be 34 upon delivery). Scan & bloods taken in week 13.

My results were:
NT: 1.2mm - 0.75MoM
HCG: 208.4 ng/ml - 6.12MoM
PAPP-A: 696.6 miu/l - 0.17MoM

The hospital midwives gave me a phone number for the Wolfson Institute (the lab that processed my results) & when I spoke to a midwife there she was super helpful at explaining why I got the risk factor I did. With our result, the baby’s measurements were well within normal but my hormones are off, where HCG is super high (& also explains how I still sick as a dog at 13-14 weeks) & my Papp-a low & these hormone markers are a characteristic pattern of Down’s syndrome. She also did say, that everyone’s hormone levels are different & this might be ‘normal’ for me & for next pregnancy it will be easier to interpret results based off this pregnancy.

As next steps, the hospital midwife recommended the NIPT second screening blood test, as it is more accurate than the initial screening blood test. I had that last week & got my results back super quick (less than a week) & have been bumped down to the low risk category again.

While we know this is only a screening & not diagnostic, we are super relieved by the result. In our particular case I was relieved by the baby’s measurements & also in hindsight am not surprised by my hormones being off - I have always had problems with hormones throughout life (hormonal acne, irregular cycles, took a while to conceive etc) & think this is part of it. Due to the low Papp-a it might cause complications later in pregnancy & they have put me on aspirin, so we aren’t out of the woods yet & don’t expect a fully easy pregnancy, but at least this result has given some reassurance. Hopefully this gives others reassurance too.

Thank you to everyone who has shared their stories on this thread over the years. I have read every word and it has made me feel less alone on what has been a very difficult day.

I had my 12-week scan yesterday in which the sonographer told me everything looked perfect, but today received a phone call to tell me my baby has a 1 in 5 chance of having Down's syndrome. I'll be 36 at delivery. Nuchal translucency was fine at 1.9mm, but my blood results gave a very low PAPP-A at 0.28 and high bHCG at 3.69.

I went straight back to the hospital for a NIPT test, and now I have the agonising wait for the results. Finding this thread gave me some comfort, but the 1 in 5 chance is a lot higher than many others have been given here. I'd been so nervous before the 12-week scan and felt so, so happy last night that all seemed to have gone well, but today I just can't stop crying. I'd waited for the scan to start telling friends my pregnancy news so had only told a handful before this happened, and now I can't bring myself to tell anyone else until I know more, but it means I feel desperately alone.

I've never posted in a forum before, but reading everyone's stories today has made me feel less isolated, so I thought I'd join to share mine too. Take care, everyone, and my heart goes out to anyone else who's also going through this now x

Hi all, OP here under a different username.

I’m so glad I posted my message at the beginning, and that lots of people have had a thread to come to. Sending love to all of those who have experienced loss or difficult news, and of course happy to see good outcomes to.

The baby I posted about is now a very tall 9 year old, who is the funniest and most mischievous little person. She’s an absolute joy and has made some difficult days much brighter.

@missmarie85 hope you’ve had some news by now, and all is well.

Hi Everyone

I had a call last week to say I was high risk, 1:27. NT came in at normal; 1.5mm and I will be 34 when I give birth.

The midwife said my bloods were a little out, only noted PAPP-A, which was 0.34MoM. This all placed me high risk in the algorithm.

Midwife promised to call today before 1:00pm, still waiting. Just wanted to say every time I felt anxious, scared or sad, I came here and read all the posts as it helped me.

Thanks all x