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

Hmm, wonder if perhaps I’m having a girl. I was doing some research while I was waiting for NIPT results and I found that some studies suggested that PAPP-A was found to be lower in IVF pregnancies than pregnancies which were naturally conceived. Also found some research to suggest that hCG can be higher in girls than boys.
How awful that you had to go through that sorry twice though. The second time did you feel any more reassurance knowing that the 1st time it was ok or did you feel just as worried as the first time?

We'd already done an NIPT test privately at 10 weeks because I didn't want to go through it again! But we still did the NHS testing because we wanted to know about the PAPP-A etc because of the increased risks with the placenta, and they did additional monitoring with my second because of the NHS results (due to a policy change - had no additional monitoring with my first). I'm glad we did.

I don’t blame you, if we were to get pregnant again I think I’d have to do the same. I don’t think I could go through this again. Yes we’ve been told about additional monitoring from 28 weeks onwards. Until then I just need to take 150mg aspirin daily to increase blood flow.

Hi all, I’ve just come back from my NIPT appointment following a 1:91 chance of T21/Downs syndrome.

struggling to find anyone with results like mine. I guess I’m looking for reassurance as the midwife couldn’t offer any at all.. I don’t really know what I’m looking for. This is my first pregnancy and it took us so long to get here - including major surgery for endo in between.

age: 31
NT: 2.7mm
bhcg: 1.38 mom
papp-a: 0.73 mom

Has anyone had similar combined results to this?

im now in the agonising wait for NIPT results. We go abroad next week too so I’m terrified I’ll spend the whole holiday anxious ☹️

Hi @Fifii firstly congrats on your pregnancy. I know it’s a stressful waiting game but try & take comfort in your odds being 1:91.
My risk was 1:9 & I spent the whole time in a state of worry, panicking it was my last chance of motherhood (I was 43). NIPT was low risk after all the stress!

NT 2.9
Hcg 1.09
Pappa 0.93

Your holiday will be a good distraction whilst you await your results. Wishing you all the best x

@Ladybug06 thank you for you reply, and glad to hear your NIPT results came back clear. Have you since had your baby?

I feel so disconnected from my pregnancy now. I’m mainly worried about the lower papp-a and higher NT results (even though they’re supposedly within an ok range). My brain is desperate to rationalise it but it’s impossible.

@Fifii yes my son is now 20 months, it’s gone so fast. I had to take 150mg of aspirin daily during my pregnancy.
It’s understandable the way you feel, it’s an emotional rollercoaster.
When googling a low papp-a result is typically 0.4MoM. It’s certainly confusing.

@Fifii I had my NIPT test today, I found out I was higher chance 2 weeks ago but was on a family holiday in France so had to wait until today. I was told I was 1 in 96 risk for downs, NT was 2.5 and apparently by Pappa and HCG are both slightly low. The waiting is awful. I hope you received the results you wanted and that you are managing to enjoy your holiday.

We had 1:5 risk of Down syndrome.
1mm NT
0.32 Papp-a
6.31 hCG (yes, six!!!)
did NIPT and it was high risk.
CVS diagnosed T21. We TFMR at 15w3.

sorry to everyone going through this. The waiting was unbearable. I’m so glad to read so many of you for the results we dreamed of. If you don’t get positive news, I hope whatever decision you choose brings you peace. Sending love xx

I'm so sorry you had to make such a difficult decision and go through all of that. I hope you both are coping OK x

Hi All

I thought I'd add our story here since this thread has been extremely useful to us the past few days.

Our stats
Crl - 69
Gestation Age 13+1 (We disagree with this, think it should be more like 12+4, I'm a big guy, not sure if it impacts, but it defo impacts MoMs on pappa and hcg)
Papp A MoM: 0.3814
Bhcg MoM: 2.8909
NT: 1.70
Nasal Bone present (not an input to the model the nhs uses but just for reference)
Odds: 1 to 68 (T21), < 1 to 20,000 (T13 and T18)

Nipt came back today, 1 in 10000 T21, we are over joyed.

Our Nipt came back in just over 56 hours. I think this is due to a few reasons:
-Given low score on 13 and 18 opted out of these
-Hospital in Central London, lab is in central London apparently, not sure the impact of this.
-Feb due date is one of the less common due dates, compared to September at least, so logically just less of a queue.

Midwife was amazed they came back so quick.

To anyone going through this stress right now my heart goes out to you, we have been through this pain and just know there is hope.

On another point, this got me thinking about what it is to be a father, yes my child doesn't have downs, but that doesn't mean they don't have another issue, be it physical or mental. Our role as parents should be to accept and support our children regardless. When I went into this process my eyes were shut to anything but a perfect baby, but now they are much more open to accepting whatever is thrown at me.

If you are going through this at the moment, I'm not sure this will help, but me and my partner have come out stronger as a couple from this than anything before.

My heart goes out to all situations and I understand all decisions, it is completely unique to you and your family. But amidst the panic and anxiety, a small time of reflection may help you like it helped me.

If anyone wants to reach out either here or confidentially please do, I know there will be parents right now a decade after the original post, trawling through for answers in the waiting period.

Thanks
T and C

I have had a 'low risk' result but the chance number given (1 in 207) is far higher than my last (healthy) pregnancy, which I feel a bit uneasy about as my blood results must be very different and the midwives can't give me any reason that might happen. I wondered if others have had the same at all - vastly different results in different pregnancies - and what the outcome was?

I can't get an NIPT through the NHS because it's technically low risk but I am trying to decide whether I should get one privately, just because I will be wondering for the next 6 months and straight after birth otherwise.

My screening results are below, and although they haven't flagged high risk, I think my age (30) might pull me into a lower risk category, and I don't know why they would be so different from last time unless something is wrong.
CRL 53.5
NT 1.9
hcg 1.75
PappA 0.45

@ConcernedFather19283 that's a lovely message, I have also been thinking more about all the things that aren't screened for and things that can happen during births etc that would have much worse outcomes than a downs syndrome diagnosis.

Hi, new here!

My wife (39 years old - 40 next month) is currently 12 weeks pregnant (first baby, we did IVF). Last week she had the combined test (so we think - the doctor just said that she will run some "genetic tests"). Two days ago she had NIPT. Yesterday her doctor called her to tell that the "genetic tests" she performed returned some high result but she said "not to worry". We were very upset about the lack of the clarity of the doctor.

The baby so far is growing fine, and we are looking forward the NIPT results next week, but this call from her doctor made us both nervous and spoiled our weekend.

Good luck all and I will report back the NIPT results next week.

My results were similar.
NT 1.4
HCG 2.2
PAPPA 0.49

I have a healthy 11 month old with no genetic abnormalities xx

Hi all,

I'll start by saying I have read this thread page 1 to the end and it has armed me with calm, patience and optimism (granted, very contained) regarding my situation.

I have had my scan and combined blood tests almost a week ago and I was nervous about the scan but relieved when the sonographer told me all looks good. All that changed when the midwife called me on Friday afternoon to tell me my blood results have come through and the combined result puts me at high risk.. 1 in 29 to Trisomy 21. In hindsight, having having read this thread and multiple others (as well as Emily Oster's book, Expecting better), given my age (38) and the fact that I'm starting my a background risk of 1:177 for DS, I should have known there a high chance I ll have a high risk result instead of the complete shock I've experienced having found out.

My scan and blood results have been:

measuring 5 days ahead at 13 weeks and 2 days (though I m convinced my initial EDD was correct)
NT: 1.40mm
b-hCG: 3.412
PAPP-A : 0.510
1 in 29 chance for Trisomy 21

Thankfully my partner & I had booked an NIPT test even before the officeal 12 weeks / NHS blood tests but we've have a gone for a comprehensive one (Prenatal Safe Karyo Plus) that analysise the entire kariotype it's taking 2 weeks to get the full result. The NHS have also offered their own NIPT and have taken this one as well to rull out any doubt, whichever the result will be. I am due to have the private NIPT results back on Weds. It's been a long weekend and I nervously wating for Weds to come.

LE: I was in the process of posting this and just received the all clear for the private NIPT and also confirmed the sex, it's a girl (I was secretly hoping for a girl) I am so happy and relieved ! Thank you to all the (expecting) moms and dads that have taken the time to post here to support others, this is helping a lot of people and we are all grateful

I just wanted to share my story here, as this thread gave me a lot of peace and reassurance while I was waiting for my NIPT results. Thank you to everyone who posted here.

I'm 39, IVF. CRL: 1.3mm, all was well on the scan. HCG: 1.19 MoM. PAPP-A: 0.17 MoM. I was given a 1:17 chance for DS.

Today, I received a low-risk NIPT result, and I feel so relieved. However, I will never forget how I felt after hearing the initial news and how difficult it was to get through each day while waiting for that next phone call. When they called to discuss the NIPT results, I was so anxious I could barely speak. I wouldn't wish that experience on anyone. For those who might find this thread in the future, I just wanted to share a couple of links that really helped me through it.

https://yourmidwife.org.uk/ I know it says "private midwife" but she gives a 30min phone consultation for free. I spoke to her and she actually used to deal with combined test results in the past, was very sweet and compassionate, and gave me a lot of information about the way the test works.
https://www.arc-uk.org/ a charity regarding the antenatal test results. They have consultants who can explain the results to you, as well as listen to you and your thoughts for as long as you wish. They literally said to me " call us as many times as you wish". They were so kind.

You can contact me anytime if you wish to talk.

I hope this post helps someone in a similar situation and I wish you hear good news and have have peace and joy in heart after overcoming all the struggles x

Hi everyone, reading this thread has been helpful. I'm beyond worried, my husband and I are barely sleeping and eating with worry.
Our situation is the following:
NT : 1.5
Nasal bone measured and normal
Free HCG: above 3
Pappa: the doctor said it was normal
I'm 31 and I'm 14 weeks today and this pregnancy was through IVF.
Worth mentioning: we had a silent miscarriage a few months ago, we never found out what happened
Our risk is high for T21: 1/44
We are waiting for the NIPT results the the waiting is killing me. I'm preparing myself for the worst...

This really sounds okay to me! The results are nothing like mine and seem super close to being normal!!!

All pregnancies are precious but you must be extra anxious having gone through IVF and a silent miscarriage. I can completely understand how you must be feeling.
The only thing that seems to have given you a high risk result as far as I understand is the high level of HcG, and sometimes it is just high and they don't know why. I had it with both my girls who are healthy. All your other levels and measurements sound great. Please take comfort from that if possible, and the chances are that everything will come back fine from these results.

Honestly your results are very similar to mine. Please please don't panic. I spent so much time worrying and it was wasted time. I know easier said than done. I have a healthy baby boy who has just turned one now. Xx

Hi all,
Thank you for your kind messages.
Unfortunately the NIPT came back positive yesterday (96%) for T21. We have an amniocentesis planned for next week but it's just to be 100% sure, we know how accurate the NIPT is.
The doctor checked our values again today at 14w5d:
NT: normal
Free HCG: 3.3MoM
PAPP-A: 0.3MoM
He said at this stage the nasal bone should be 3mm but ours was 2.5mm.
We are going to terminate the pregnancy as soon as we get the results, probably at 16wks.
We are beyond devastated. This baby came from a long way of infertility. 3 IUIs, 3 IVF transfers, 1 MMC at 12 weeks and now this.
I wish you all the best, thanks again for your kind words.

So sorry :(. We were in your position in April and terminated in May at 16 weeks. I have no regrets and open to chatting if you do feel you need to with someone who’s done it.

I'm so, so sorry to hear you didn't get the results you desperately hoped for. It's so completely unfair. You've been through so much already. Sending you strength x

At 13 weeks my HCG was 2.0 ,
PAPP-A 0.4,
NT 2.6

After the scan the PAPP-A was adjusted by factor to 0.9

I am 38 this month and my DS was adjusted from 1:191 to 1:15 after the 13weeks ultrasound.

I did a NIPT and i am going crazy, the wait is long and i have googledand searched about everything and anything.

Has anyone gone through the same? Please share your experiences i need your prayers.
I have 3children and this my 4th one i cant think straight.

I had a call yesterday that my cubs screening gave me a 1 in 109 change of T21 making me high risk and I am beside myself with worry. I am 30 years old, fit and healthy with an overweight bmi as am very muscular and exercise a lot. I am 13 weeks and this is my first pregnancy and I think I just wasn’t expecting this call it’s shocked me a lot.

NT was 2.3mm
Papp A was 0.42
HCG was 1.98

All within normal range with my bloods just is what the midwife said and the high hcg and low Papp a is what’s put me in this risk. I had the NITP bloods yesterday and have to wait a whole week. I just can’t stop thinking about a high risk outcome and am just making myself sick with worry. My boyfriend is positive which is good but I just can’t believe I have to wait a whole week.