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

Hi everyone,

Reading these threads tonight have been so helpful. I’ve spent the majority of the day crying, feeling confused, angry and emotional. Already have two children 7 & 4, who I love dearly.

Currently 12+1, had my scan on Friday just gone, all seemed well, sonographer said so… could see the nose bone etc…

Got the devastating news today that I have 1:4 chance of Downs. I am 34 years old, no previous complications. Also 1:264 for Patau’s and Edwards but apparently this is low risk.

NT 2.3mm (said to be within normal range)
B-hCG 2.24 (nothing said about this)
PAPP-A MoM 0.23 (very low & this was the indicator) - have been prescribed aspirin & said will need growth scans.

I went to the hospital today for the NIPT test, hopefully due results next week.

I know nobody on here can tell me everything will be fine. I may very well not be, but I was wondering if anyone else has similar results/ age as me and what the outcome was?

Thanks so much in advance.

We just had a CVS test after being given a 1 in 4 chance at 35 years old.

Screening stats were:

NT at 12+1w 3.7mm
hCG 2.11 MoM
PAPP-A 0.34 MoM

Nasal bone was present on the scan and baby had a 166bpm heart rate which I've read is slightly high?

Now the dreaded wait for the call which is hopefully before Xmas..

I wish you all the luck in the world. The wait is the most agonising part, aside from the result. My NIPT & CVS confirmed t21… and I am awaiting surgery on Monday for tfmr. The decision has absolutely broken my heart but we have two children already and we didn’t think the possibilities would be fair on them, us, or the baby. My Papp-a was 0.23 so lower than yours, my HCG about the same and NT 2.7…

I am sure you will be one of the lucky ones, and I have everything crossed for you.

Xxx

@E77ie2021 I’m so sorry you’re going through this. I had a tfmr last month and it is so heartbreaking and hard. Wishing you lots of strength and love to get through this. x

@E77ie2021 thanks for message. Sorry to hear you got the news that you didn't want to get - I hope you have plenty of support to get through this tough time.

This thread has been so informative and useful to us - gives us some idea of what to expect either way

Hope for our cvs results today 🤞

Our cvs results came back on Friday and it was confirmed the baby has T21. Even though the medical staff did prepare us by saying the combination of our screening and bloods pointed something being wrong, we were absolutely devastated to hear this news.

We've now begun the medical procedure for TFMR. We did enquire about the surgical option but was given a 2 week timeframe for this process to be completed. This would have meant the baby would be 16 weeks and didn't want to wait this long.

@Nightsb4xmas

Our cvs results came back on Friday and it was confirmed the baby has T21. Even though the medical staff did prepare us by saying the combination of our screening and bloods pointed something being wrong, we were absolutely devastated to hear this news.

We've now begun the medical procedure for TFMR. We did enquire about the surgical option but was given a 2 week timeframe for this process to be completed. This would have meant the baby would be 16 weeks and didn't want to wait this long.

@E77ie2021 @Nightsb4xmas I'm so deeply sorry to hear that you're going through this – my heart goes out to you both. I had a medical TFMR for T21 7 weeks ago at 16+2. If you need someone to talk to who knows the pain you're in only too well, please don't hesitate to message me. I'd also highly recommend contacting ARC if you haven't already (www.arc-uk.org) – they've been a great support to me in my darkest days.

I hadn't felt able to come back to update this thread sooner, but I originally posted here in October when my blood results gave a very low PAPP-A at 0.28 and high bHCG at 3.69 (nuchal translucency was fine at 1.9mm). NIPT followed by CVS eventually confirmed our much-loved and much-wanted baby had T21. For many different, complex reasons we eventually decided that TFMR was the right decision for our baby, and for us, but it was the hardest thing I have ever had to do, and I am still struggling to come to terms with what's happened.

Sending love and strength to everyone who finds themselves here x

This thread has been so helpful. I found out this week we are high risk for T21. It was completely out the blue as at our 12 week scan the sonographer said the nasal bone was present and NT was 1.3mm so low. He said (and even wrote on the report) 85% this was correct. However, this week the fetal medicine department called to advice my bloods has put me into the high risk category. The beta free HCG was 4.71 and PAPP A was 0.34. They even said the scans are only 50% accurate which I think they should make people more aware of.

I have cried every day since as we already have a non verbal 3 year old who is just starting to speak and catch with developmental delays so we couldn’t take on addition challenges as it wouldn’t be fair to them.

We had the NIPT so now the painful waiting game and just hoping we get some good news. This thread has helped show me it can be positive and just praying we are one of the lucky ones! I wanted to comment just so others this may happen too have lots of info and stats to read, just like I did. Will update when we get our results x

Thank you ALL for your lovely comments and well wishes. I’m two weeks through following my surgery at 18 weeks pregnant. I felt sheer devastation in the days that followed but I am now starting to look forward. We knew it was the best decision for us, the baby who would have a limited life- and our two children we already have.

I send huge amounts of love to all of you, as we ourselves only truly know the heartbreak and sadness that this causes.

X

We had our results back and low risk for all three - over the moon ❤️

Fantastic news @SophG1990- I’m so over the moon for you ❤️

Thank you ❤️

Sending you lots of love and strength after your journey xxx

During the past 2 weeks I have been frantically searching for posts like this as I was given a 1 in 9 chance of downs & 1 in 130 for Patau.

My last pregnancy ended over 2yrs ago due to Edwards Syndrome (1 in 2 risk then) NT was 6 & other issues were detected. I was devastated to be in this position again as it’s been such a long journey to get pregnant again.

Thankfully my NIPT results came back lower chance but I’m posting my results for others who find themselves here too.

NT 2.9, hcg 1.09 & Papp-a 0.93, age 43

Hi this thread has both helped me and also induced further anxiety
had the phone call this week to say I’m high risk 1/12 risk for DS

Heartbroken after suffering MS in January plus it’s taken 2 year to get to this point. I’m so anxious I’ve called in sick from work as I’m just so unsettled and shaking with anxiety

age 35
NT 1.9
HCG 3.8
PAPPA 0.39

im to scared for the amnio due to suffering miscarriage had the NIPT yesterday I’m so so scared as I don’t think I could cope with DS child with

Out personal circumstances. I just wish this call would be sooner than a week the waiting is horrendous. Also the fact that if I was to TFMR I won’t try anymore as I can’t go through anything like this again and it just makes everything so much harder.

lots if your posts have been reassuring though and I’m holding onto that x

@Shleebob hello there, so sorry to hear you're going through this horrible time. I remember it well, it was the worst 5 weeks of my life waiting for the situation to be concluded. I was given a 1 in 5 for downs bc her NT was 3.5mm, my age being 40, my bloods were normal. I did the amnio and everything turned out to be fine! She's now 6 months old and having her nap!
There's not a huge amount anyone can say to make you feel better but just know that many many women go through this situation with the combined test, and things turn out to be fine. I had a week off work I was so stressed so that's the right thing to do. Tea, choclate, warm baths and scrolling through the Internet about the subject is what got me though.

Good luck ❤️

@Fs252a honestly thank you so much. Although some of the posts on here are anxiety inducing I really appreciate this thread it’s been a bit of a life line this week x

@Shleebob I know exactly what you are going through, I've had 1 in 16 risk of DS, my results were crazy
NT 3.1mm MoM 1.59
bHCG 185.0 IU/L MoM 8.69
PAPP-A 7684 mIU/L MoM 1.47
Plus my age 35 years old
RISK 1 in 16
I couldn't believe it!!!! I had my NIPT the next day and the result was normal. I was in a huge relief. My baby is 8 months old now and healthy, he didn't have DS.
So please don't worry, I know it's hard but most of the ladies get normal results after NIPT.
Wishing you a very good luck xx

@Mummy825 I’m so pleased you got your happy ending must have been like the weight of the world was lifted ❤️ I praying for good news. How do I tell all the people that have wished us well and congratulated us that things havnt worked out i just hope and pray for good news. Thank you for message of hope xx

Many thanks to all the ladies of this thread who've shared their story. You're all amazing. I'm currently an emotional wreck and feel very alone, but your experiences and support bring me comfort.

Two weeks ago I had the NHS combined screeing (at 13 weeks). Nt was 1.4, so all seemed well but i just had a funny feeling I'd be receiving the dreaded phone call. I'm 39 years old so already high risk (40 at full term, background risk is 1:121). I received the call a few days later...

NT 1.40
hCG 1.5184 MoM
Papp A 0.2949 MoM
13 weeks crl 67.4mm
Fetal heart present but no rate given

Risk T21 1:37
Edward's/Patau's 1:1490

All I could hear was 1 in 37. The hospital midwife was so kind and caring. She took blood for the NIPT screen that afternoon and booked a cvc or amnio, depending on what the consultant thought best. The waiting is driving me mad. My poor DH is so utterly supportive and holding us together.

The jubilee bank holiday means i won't get the nipt results for a while, possibly the same day as the procedure. The procedure is booked for next Wednesday at a fetal medicine centre, a 2 hour drive away. I'll be 15 weeks, so the consultant will decide on the day the best approach. Regardless of the nipt results, I cant live with the uncertainty and therefore need to have the procedure.

I feel numb.

I have a beautiful little boy who will turn 4 very soon. He keeps me going but I am feeling sick with worry. It was a low risk pregnancy.

The midwife also told me my papp a is very low (i guess hcg is within range but I cant find figures). So now I'm afraid I'm not even nourishing this little baby. I'll be given aspirin to start after the procedure. But these awful thoughts about how i am not feeding my baby properly is also hurting me so much.

Thank you for listening. I feel so lost. I dont know how to get through all this waiting and every second i am hoping for a good result.

I had this thread bookmarked from years ago when I went through the same thing. There wasn't much info out there at the time maybe there is more now. I just came here to say my bloods were very similar to yours from what I remember. I'm sure my pappa a was 0.3. I was 37 years old at full term. My risk was 1/9 for T21.

Anyway after the longest 2 weeks of my life I got the results of my harmony test and results were clear.

Hes sat here now with me having his bath. He's hit some milestones late but I think that's just him and he's happy and healthy and gets there in his own time.

So try and eat and take care of yourself and hopefully everything will be OK. I think over 35 perhaps rather than theses combined blood tests it would save a lot of worry if at 10 weeks they just did a harmony test. I advise any pregnant woman over 35 to just pay for one. I would have done if I knew it was an option but 7 years ago I hadn't even heard of it.

Hi,

I also had this thread bookmarked. It’s a horrific time and a horrible wait…on the nourishing point, my Papp-a was lower than yours at 0.18 they gave me baby aspirin which I took religiously; and had extra scans which were wonderfully reassuring. Baby was smaller than my first but still went to full term and 6lbs 8. Hopefully this is a bit reassuring for you and fingers crossed for a positive outcome x

Thank you both for your kind words and stories. Every hour feels like days.

I feel sick, partly pregnancy related but i think largely to do with the anxiety. I dont remember feeling like this before.

You all give me hope. My little boy is my ray of sunshine and i hope and wish for this little baby I'm growing to be happy and healthy.

This thread has been the most comforting thing for me. i have been up SICK to my stomach for days now.

i'm 29 weeks and just got a call from my midwife that our high risk doctor reviewed my anatomy ultrasound and found an echogenic focus on my baby girls heart. she said it could be nothing - or could be a soft marker for Down Syndrome. I had first and second trimester screening done that came back 1 in 7800 chance for down syndrome, which i thought was good until i took a microscope to my numbers which were as follows:

Im located in the US by the way, and 29 years old.

First trimester results, taken at 12weeks 4 Days
NT: 1.7mm
CRL: 62mm
Nuchal Trans: 0.90 MoM
PAPP A: 0.49 MoM
hCG: 1.0MoM

Second Trimester Results, taken at 16 weeks 4 days
NT and PAPP-A were the same
AFP 1.53 MoM
HCG went up to 2.08 MoM
UE3 0.8 MoM
Inhibin 1.83 MoM

after researching these numbers im really not sure how my risk factor is that low. everything ive read has said low PAPP and high HCG is DS linked. none of my doctors have even mentioned these numbers to me and No further genetic testing has been offered. I have a level 2 ultrasound scheduled for 2 weeks to check on the echogenic focus. Being 29 weeks already i am so terrified.

Hi there.
I just wanted to send you some love and solidarity here. We had a risk factor of something like 1 in 60 for downs syndrome and 1 in 180 for Patau's or Edwards syndrome, I forget which one. For my age and with the bloods it should have been so much lower but the NT measurement was high, 3.4mm, and they went with the lowest measurement they got after taking it several times, 0.1mm below the cut off for being offered an amniocentesis. I also didn't want to take the chance with the amnio as I'd been told it was a 1 in 150 miscarriage rate and I'd not even supposed to be able to have children. We ended up paying for private genetic blood testing ourselves as no further testing was offered to us on the NHS. It was pricey but worth it for the peace of mind. I know how horrendous the waiting for results is and how hard it is to focus on anything else.
There are some fantastic stories on this thread of people with totally similar results to you and baby has been born absolutely fine with no trisomy. Also, I know two mums of children who do have downs syndrome, and they are absolutely WONDERFUL children. Yes, they have some challenges they have had to overcome, but they are beautiful happy children who are doing so well. They are both medically very stable now and healthy as they can be. One of these children had absolutely normal results all the way through the scans and the pregnancy so it was a complete shock to them. He has mosaicism so his form of downs syndrome is milder and not as easily picked up on. But his mum has always said that as she knows no different, their life feels normal and he is just their son and that's how he is, and they couldn't imagine him to be any different. There are charities and organisations out there that can offer amazing support for the parents of these children too. Even if you have normal results in pregnancy, there are many conditions that aren't picked up until after birth. Added to which, even if your child isn't born with a health condition, they could develop one at any time. I don't say this to worry you, but more to express that we never know what is around the corner for our babies, even the ones who are born with no existing conditions. As parents we can either worry about all the what ifs, or roll with the punches deal with bridges to cross when we come to them. It's all we can do. It's hard, and it's terrifying, and I know you are going through all the worst case scenarios in your head. But all you can do is try not to lose focus of the fact in 10 weeks or so you are going to be meeting your beautiful little baby. What will be will be, but also remember that the odds are stacked overwhelmingly in your favour. An echogenic focus is much more likely to be nothing, here's a link that you could have a read through if you haven't already come across it that may give you some reassurance;
utswmed.org/medblog/pregnancy-ultrasound-scary/
Come to think of it, I'm pretty sure they found one on my son's scan as I'm sure I remember it being mentioned and they spent a long time looking at his heart, but I didn't Google it or look it up as we'd already had the private testing done and I'd decided after that, I was going to only worry if my sonographers were worrying. We had extra scans all the way through which showed his legs were very short (2nd percentile) and he had a big head (somewhere on the 90th) but still within the realm of expected variation according to the doctors. I had to stop myself looking those things up too! He was born at 40+2 with no pre existing health conditions, and just very short legs! He's 18 months now and still has a huge head, have to yank age 3 t-shirts over his head as they get stuck! But no health reasons why, it's just big. He was also born with a fold on his ear lobe that he still has, which can indicate other genetic disorders, but it's never come to anything. He is developing normally and seems absolutely fine. Sometimes these things just are, and there is no explanation. I never really got an answer as to why his NT measurement was high, other than these things just happen sometimes. I remember reading a story of a lady with twins with measurements of over 6mm, they were absolutely certain the babies had some sort of condition, but neither of them did. No matter what scans say, you can't be 100% that there is no condition until after baby is born, and then there are hundreds of things you could worry about after that too, if you were trying to! It's such an anxious time, but it's really positive that they've only found one thing that can very occasionally be a soft marker, and even if it was, you still have a wonderful little baby who is half of you and half of your partner and you've created them together. If there was one thing I'd done differently through pregnancy and the early months, it would be I wish I'd just worried less and gone with the flow because whatever was going to happen was going to happen. Take all the advice you can from the doctors, and please try not to worry unless they are xx