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

Hey, definitely worth going back through the thread as so many people have posted their results but yes, my combined screening came back as 1 in 5 for downs… NT was 1.5 with HCG at 5.65 and Papp-a at 0.18. NIPT came back as highly unlikely and I have a healthy 18 month old girl. The wait was awful… I think I read this thread again and again. Fingers crossed for a positive outcome for you and easier said than done i know but try not to get too anxious as not good for either of you x

Hi, with my first I was 1 in 33. He’s absolutely fine. He’s now 3. And he’s currently jumping around the living room like a lunatic haha.
The wait for the results is so stressful.

Just to reassure anyone facing high chance through either the combined test or NIPT, my daughter had a postnatal diagnosis of Down's syndrome (we'd been given 1-1,900 in the combined test, so it wasn't even on our radar). We were so shocked and distraught, as we knew nothing about DS, but nearly 8 years on, our daughter is an absolute delight and lights up our life!

Sorry @curliegirlie I don't think that post is helpful or asked for. Posting pictures may only make people feel worse about one of the most agonising decisions they ever have to make (which will be considered on a number of factors, including far beyond the cute years of childhood in bringing up a child with DS, a sad decision I have made myself a few weeks ago). And posting a happy picture of your (gorgeous!) daughter isn't going to make things feel any easier for someone waiting for results, or considering a termination - quite the opposite. It's not a decision people take lightly.

Hi
For anyone new here waiting for their further results, I see you & know how worrying that time is.

I posted on here a couple years ago after we received a 1 in 8 chance for Down’s syndrome. We received a low risk score after the subsequent test (I can’t remember what that test was called)

We now have a very determined, funny & gorgeous 16month old girl, who does not have have DS (but does put us through our paces with her big personality 😆)

I was 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

I hope this helps someone & gives comfort, as I found positive stories helpful during that worrying wait.

@User69611 so this is only a thread for one type of outcome is it?

I'm truly sorry if I've triggered you, but do you not imagine that these threads full of doom and gloom are slightly triggering for us parents further down the journey?

I hugely appreciate that getting a high chance diagnosis prenatally can be shattering (it can feel equally shattering postnatally) but all I want to add here is some reassurance that a DS diagnosis does not have to equal the end of the world. At the same time I do recognise that for some families there will be very valid reasons for not wanting to continue. BUT that is not everyone, and others may appreciate the fact that post DS diagnosis life does go on and this thread should reflect that as much as it reflects TFMR. It's a thread to give advice from all perspectives and my gorgeous daughter is mine. Sorry.

@User69611 I had no idea that you could get a postnatal diagnosis of DS, I thought it would always be picked up during scans, so that's actually really good to know. You're daughter is beautiful, thank you for sharing

*your daughter

@curliegirlie thank you for sharing. Your girl is beautiful. I agree diagnostic and screening tests are not black and white. Helpful for people to know there’s positive outcomes x

@curliegirlie Of course it's may be helpful for those in this position to hear what it's like, if they choose to do so, and of course your daughter is absolutely gorgeous and great she is thriving. And I get these threads are 'triggering' for you on the other side - but you've chosen to come into this thread on antenatal tests to post that. If someone wants to know about what it's like to have a child with DS in order to make the decision I would think they'd then go to the appropriate parenting board to find that question. People in here are posting about the agony of waiting for tests and making decisions.

@curliegirlie speaking as someone who came on this thread years ago with a high risk diagnosis I would like to say I think it's great that you posted something so positive and had you posted it then I would have really appreciated it.

@User69611 screenings and diagnostics are far far far more complex than people on these threads realise - and certainly even clinicians are limited as to what can be assessed prenatally.

My own experiences of prenatal screenings and diagnostics were complex. I got told everything from my daughter being allegedly “incompatible with life” to “healthy” results, and then back again. As it turned out, she is seemingly a happy, healthy 3 year old now.

Personally this taught me that when pregnant we can only hope for the best. We may be blessed with a healthy baby or not - and clinicians can only tell us so much.

When people post about having NIPT at 10 weeks to reduce anxiety and “for certainty”, I can only say I find this tremendously unhelpful and unrealistic as I have come across so many people have the opposite experience. These tests can also elevate anxiety and sometimes give the illusion of certainty when this is not the case. Having said this, everyone is different, and some do find comfort in having endless tests even when this is clinically contraindicated or holds inherent risks.

@curliegirlie your daughter is gorgeous!
of course no antenatal test is always correct & I’ve came across a few people who had a DS diagnosis after delivery with perfect scan & testing results.
The wait is agony no matter what you decide to do after the results. I totally understand everyone’s decision is different & for different reasons.
I’m sure @curliegirlie posting a pic wasn’t aimed at ‘trigging’ anyone!

Yes, I've come onto a thread on the antenatal tests section about coming out the other side of a DS diagnosis to offer my experience and another perspective - that life can be positive afterwards, even if the test is high chance and the baby has that extra chromosome, just to balance the TFMR or "hurrah, I wasn't the 1 in x!" that makes up the majority of the thread. If that's all people ever read, then it's no wonder that the termination rate is something like 90%.

If I posted this in the parenting section, those who the post was directed at (pregnant women who are scared after receiving a high chance result for DS) would never read it. Again, I'm sorry if it triggers anyone who has had to make a horrifically difficult decision and are coming to terms with that decision, but you have to see comfort in the fact that you made the best choice for you and your family based on what you know, what you were told and what you researched. It was right for you and seeing a photo of a little girl with DS won't change that. Maybe that choice would have been different had you seen a post like mine, maybe it wouldn't, but at least it would have formed part of the info you took in when deciding.

My daughter is amazing, makes me so proud, yes there are plenty of difficult moments (as there are with my tantrumy NT 5 year old) and yes it scares me a bit reading about things like early onset Alzheimer's etc, but you can't predict the future of other kids, so why try to do so with kids with Down's syndrome?All you can do with any child is try to prepare them for adulthood and support their future as best you can.

Back on topic, some really useful things to read if you get the phonecall, include the prospective parents information (and signposting to local groups) on www.downs-syndrome.org.uk, www.positiveaboutdownsyndrome.co.uk (which also has various FB groups for parents and prospective parents) and a lovely photography project (which includes stories from parents of children with DS at a variety of ages) www.downrightamazing.co.uk.

Also Sarah Roberts has written some wonderful, positive but honest and never sugar coated, blogs on FB and Instagram called "Don't be sorry" about her young son. I think she'll be winding those pages down soon, due to a change in career, but her book For the Love of Oscar is available and fantastic.

Love to all.

Thanks for your message @curliegirlie You make some very good points and your resources are v helpful I imagine to anyone reading these wanting to find out more - and I am sorry if my comment was a bit curt, I think you are right and it’s important to hear about both sides and especially about what it might be like having a child with DS if someone is very unsure about their decision, or if they choose to continue with the pregnancy. I think it was just the image that felt like it may be adding pressure on people who could be agonising over the decision (aware this is just my view and I am obviously sensitive having recently been there). And I guess a big part of the nature of the screening tests is that it gives people choice when previously and in your and other cases there isn’t a choice and of course you just get on with parenting and loving your child immensely to the best of your ability.

Anyway, sorry again if my reaction to your post was hurtful and I wish and your daughter the very best xxxx

Hi.

Wanted to post my results. I I took my NIPT test a week ago, still no results. I'm dying and switching from hopeful to crying in my bed.

We have been given 1/60 chance of T21.
Will be 31 at Birth.
It is my second IVF round, the first one didn't work.
Papp-a 0.27 MoM
HCG 2.54 MoM
NT 1.7 mm

I need words of encouragement.
All I wanted was a "healthy" baby, I have put so much effort into this. I'm worried sick. Why can't it be simple for us for once. 😫

@Newmomsmile please stay positive, I'm sure you've read through every message in this thread just like I did back in 2021. My numbers were crazy I can't remember them exactly now but I had very high HCG something like 5.MoM and NT 1.8 I was 35 years old at my due date and I was given 1in16 for T21. I can feel what you are going through now but please stay positive as most of the expecting mothers get a clear NIPT with I believe will be the case for you too. I had my boy in 2021 he's now a healthy 2 years old and I really regret not enjoying my pregnancy back then.
So try to keep yourself busy with other things and don't Google too much as it will only put pressure on you, your NIPT will hopefully comeback clear xx

@Mummy825 Thank you so much. I read everything, but got lost with the numbers and good and not so good stories.
I'm really glad I found a community of mom like this though.

@Newmomsmile
Your numbers look pretty good! Your baby's NT is in the normal range and not a marker at all. Your Hcg is only slightly over as only above 2 is a marker. For Pappa, anything below 0.5 is a marker so again not hugely under. Like mummy825 said, keep yourself as busy as possible and I hope you get the outcome you want 😊

@quesera88

@quesera88 Thank you. This thread was so reassuring.

So, I loved reading the outcomes of others.
Here's mine:
The day we found we were high risks we did the Harmony NIPT.

We also had an appointment with a genetic counselor 4 days later, who suggested we do another NIPT at the public hospital (to eliminate any false positives - or negatives) and a karyotype of both my boyfriend and I's DNA.

So both NIPT came back low risks with all trisomies !!! And we waiting for a baby girl.

Didn't have any feedback as for the karyotypes.

❤

@Newmomsmile I'm so happy for youuuu 🤗 forget about all this now and enjoy the rest of your pregnancy xx

Congratulations on your healthy baby girl!

I’m the same as you I got the call yesterday and went straight down for further test, told me 1 in 12 chance and my papa was 1.2 does that sound possible ! Was all info overload at the time x

Hello,

I'm currently in the same position as many women on here and the last few days have been hard. This forum has helped me lots and wanted to add my NT combined test results. Even though the last post was in September.

GESTATION AGE AT SCAN: LMP 12+6 / 13+0 BY MEASUREMENT
AGE: 37 (38 at EDD)
NT: 1.6MM
HCG: 4.16MOM
PAPP-A: 0.51MOM
Total result 1:45 OF DS / 1:5000 T. 13&18

Probability of 1:45 is scary to be honest and I'm due on for a CVS tomorrow and absolutely anxious and terrified (the pain during the test and also what will happen after).

Anyone had CVS and could share their experience with me? How was the pain? Did you have to do anything beforehand to prepare? I'm doing it at Homerton hospital in London and I've heard good things about them so hopefully all will go well. How long did it take for the results to come in?

Fingers crossed 🤞