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

[KIEU]

Hi all my first time posting on here, im 31 with 1st pregnancy, i recently did 12 weeks scan and blood test and results gave me 1:10 DS. Iam shock as my husband family and i have no history of down syndrome. My NT is 1.17, hcg 5.21 and papp a is 0.58. The day before i did the test i had food poisoning which empty my bowel completely. Does anyone know if food poisoning and severe vomiting have any affect on blood test?

[Liveforholidays]

I'm sorry I don't know if it does make a difference. It is a good sign that your NT is normal though, it'll be the bloods that will be making your chance so much higher. Did they recommend your next steps?

[KIEU]

Hi liveforholidays, i have an appointment at the hospital in a couple of days to make my decision. Im going with Amnio. I read alot on it and seem like everyone so far is fine with the procedure. Im 13 weeks so be a few more weeks for amnio and results. The waiting game is killing me, im staying positive and pray everyday

[Liveforholidays]

That's good then, glad you've made a decision. I went into a complete panic and couldn't bear to do nothing for a few weeks so opted for NIPT in the meantime. This came back low risk so decided not to proceed with amnio in the end though for complete peace of mind I do wish I'd had it now. Keep us posted on your results.

[Paranoidkaty]

@kieu very similar bloods and age to me.
The NIPT is a good first step whilst waiting for the amnio as it’s only a blood test and if it comes back low risk, then amnio isn’t recommended.
The NIPT is really really accurate for t21 downs.
I’ve been where you are and totally feel for you. PM if you want to chat any more x

[KIEU]

Thanks everyone, NIPT sound like the option i will try. I should of done it earlier. Pregnancy can be so stressfull. Definately keep you guys posted! Thankyou so much x

[NoCallerID]

Hi @KIEU, I'm sorry you're finding yourself here. As others have said, the NIPT is very accurate for T21.
T21 is 'just one of those things' and happens randomly without any family history.
Neither my husband nor myself have any family members with T21 yet lighting stroke and our little boy was diagnosed with it and also physical abnormalities. We had done the harmony test before the 12 weeks scan (as we did with our firstborn) and had the results on the same day as the high risk 1/40 bloods from the NHS screening. (NT was 1.9 and no other DS soft markers)
I've got everything crossed for you that you'll have a good outcome.

[Milcd]

I haven't posted before, but I am in a similar situation as @KIEU and @Paranoidkaty. I am 40 and this is my second pregnancy, first ended in MMC in December 2019. I decided because of my age to have NIPT as soon as I could so had it at 10 weeks and everything came back low risk (1 in 10,000). I then had my combined screening last week at 12+6, NT was 2.1 and had the call to say my risk was 1 in 10 for T21. My bHCG was 5.8 and PAPP A was 0.8. It left me really confused, I know that NIPT is much more accurate and my NT was well within normal range, but then worried that the fetal DNA they collected was only 5.7% on NIPT. I have called the place I had it done and they said that it shouldn't matter as they have a cut off at which they would have to repeat the test. They also said the lab suggest invasive tests in this situation (probably so they would not be liable if the worse happened). I have come to the decision to have an amnio, even though there is a wait for it. I have reached the stage where I just want an answer that is not a probability, even though amnio has a slight risk.

[Paranoidkaty]

@Milcd I’m really sorry to hear you’re in the same situation. The NIPT is really accurate and chances of false negatives as so so low. My fetal fraction was 10% I think but I’m led to believe above 5% is great.
So I think you also just have wacky bloods!
Please let us know your amnio results.
Best of luck with it.

[Liveforholidays]

@Milcd it is a shock when both screenings come back so widely different. But remember that your combined screening shows that there is 90% chance that all is well so a 'low risk' NIPT indicates that you are extremely likely to fall within the 90%. Both screening tests also look at different things... NIPT is way more accurate because it's not based on a number of averages. Your age will automatically push the risk up massively. This is the reason I guess that a lot of women who've already had NIPT then don't have the combined screening test....or have the combined test first then go on to have NIPT as a second screener to potentially rule the condition out.

[Milcd]

@Paranoidkaty thanks for the reply, I'm holding out hope that it is just a normal level for me. I will keep you updated on my amnio results, it's not until 7th May, trying to find things to occupy myself so time goes quicker which is quite difficult at the moment.

[Milcd]

@Liveforholidays thanks also for the reply. When I had my NIPT they suggested I had the combined screening to check the levels of PAPP A just in case it was low and I would need to be on SGA pathway. Because I am older I am on it anyway. As you said it is still a 90% chance that everything is ok just on the combined test.

[Liveforholidays]

@Milcd yes thats a good reason to go for the combined. That's how my low papp a was picked up and I'm now on daily low dose aspirin. The screening tests are so confusing aren't they? I'm not sure what I'd have done if I'd have been in your shoes as I had NHS screening first and then went for NIPT which I was told was sufficient and trumped the initial combined (as the nuchal measurement was within normal range). It's very hard not to fear the worst though!!

[KIEU]

@NoCallerID thankyou for your information. I will keep you guys posted. @Milcd sorry to hear you are in similar situation as me. It is a stressfull time but stay positive, there are many people in the same situation as us and have good outcome. I have book for NIPT tomorrow so reults should be back next week!

[KIEU]

Hi everyone, just an update on my result. I did NIPT and came back 1:10000 for DDS and Trisomy 21 and 13. Iam pretty happy but the dr ask if i still want an Amnio which is playing on my mind. They said its up to me, because NIPT test is only a screening and Amnio will give diagnose. Im scared about miscarry risk. Has anyone have an incorrect NIPT test?

[KIEU]

Trisomy 18 and 13**

[NoCallerID]

Hi @KIEU, I did wonder how you were getting on. Glad to hear you go low risk results back!!!
I think it's a personal choice. The risk is very small but still 1/100 (correct me if I'm wrong...).
I've only ever had a CVS and I'm not sure how this compares to the Amnio but personally I found it painful and would only ever do it again if really needed.
However, I guess you have to weigh up whether you could accept the good results from your NIPT or if you'd be anxious and worried throughout the rest of your pregnancy.

[Paranoidkaty]

That’s great news it’s come back as low risk!
You are ofcourse entitled to an amniocentesis but my doctors questioned why I wanted it when the NIPT means you now have just as low risk as anyone receiving low risk on the combined screening by the nhs - no one of whom does an amnio.
The whole high risk screening has intermittently played on my mind throughout my pregnancy and has really tarnished it.
There are ofcourse very very rare cases of people having false negative NIPT but for Down’s syndrome it’s very accurate.
I reviewed journal articles and came across 4 or 5 false negatives, which when you consider how many people have it is minute.
As @sussexmidwife said to me; I am now in an even better position, and more likely to have a chromosomally normal baby than someone who had a low risk nhs combined screen and thought no more of it for the rest of their pregnancy.

[KIEU]

Thanks guys for your reply. I'am more positive after NIPT test result as iam now low risk. My husband don't want me to do Amnio as results from NIPT is negative. And they also collected 16% DNA from baby so im guessing thats a good sign aswell. The Dr also said my 20 weeks scan they can look closer at placenta and see if baby have any defect and we go from there. X

[Liveforholidays]

It's really tough isn't it to justify having an amnio once you've had a low risk NIPT. You almost need to have combined then Nipt if high and accept it, or combined and straight to amnio, or Nipt then amnio to confirm a high risk. I was happy to accept the NIPT result based on the scan. If abnormalities or high nuchal fold had been found I think an amnio would have been the more sensible option. For me, as the previous posters have said, combined screening high risk has completely tarnished this pregnancy, despite me now being classed as low risk following the NIPT. However, I couldn't justify risking miscarriage with an amnio when the scans and Nipt came back low risk. It seems many of us are in the same boat which helps. It's good to remember what someone else just said about the NIPT actually being more accurate than many people having a low risk combined. My friend had a child with DS last year and her combined screening was fairly low risk. She didn't have any additional scans, or any further testing as it was deemed unnecessary.

[Liveforholidays]

It also helped me to think about how I would feel if I did miscarry following the amnio.....a very low chance of this happening but still a chance. I think I'd really struggle to live with myself. However, I decided I could manage 6 months of slight uncertainty. Having gone through pregnancy before when I had strep b, I really, really worried about that and I don't even think about it now. Some people really enjoy pregnancy, for me, it's a means to an end (we're incubators). I have a gorgeous 7 year old son and don't even think about the stresses in my first pregnancy so know this will be the same.

[Paranoidkaty]

16% is very good!
They only got 10% from me and they were happy so that’s great.
All sounds on track.
Yes I was dreading my 20w scan but all looked great. That made me think therefore, even if I had a child with Down’s syndrome they’re anatomically healthy so therefore should be able to lead a totally normal life.
Only if abnormalities or heart issues etc seen would I have considered TMFR.

[Milcd]

@KIEU that's really good news that you have also had a low probability result from your NIPT. I have decided to have an amnio, only because I need to know for sure and don't want to be anxious throughout the pregnancy. Although my NIPT result was low risk I have my concerns that there was not a lot of fetal DNA in the sample and that may have skewed the results (probably being paranoid, they have cut offs for the amount of DNA needed for a result for a reason). I believe that the chance of miscarriage they quote is from studies done as far back as 1980 (Emily Oster talks about it in her Expecting Better book), plus it doesn't differentiate between those pregnancies that did have a chromosomal disorder that would have miscarried regardless of the amnio and those that miscarried because of the amnio. I'll discuss with the consultant the chances before hand and they will perform a detailed scan so we will have all the facts before we go ahead. It just seems sad that a lot of us are left in an anxious place following the combined screening, and that NIPT is is still a postcode lottery, or an expensive test that not everyone could afford.

[BabbleBee]

OP here under a different username - I can’t quite believe this thread is still running! I originally posted in 2012!

Also feel a bit guilty for never updating...

I remember it all very well despite being so many years ago. I went for the Amnio as planned. The consultant scanned me before the procedure and told us that it was a very normal looking scan and would be very surprised if anything untoward came up, he even offered for me not to have the amnio but I was so prepared for it we went ahead. There was a chance that the pregnancy was a failed twin, which would’ve explained the horrendous symptoms I’d had at the beginning of the pregnancy. I remember being told the worst case scenario - IUGR, pre-eclampsia, still birth and telling the consultant all of this and he was really shocked that I’d been given so much to worry about based on my bloods.

The amino results came back fine, the pregnancy progressed normally. I went to almost 43 weeks but ended up with a spontaneous labour and delivering a beautiful girl. She was the heaviest of all my babies coming in at 8lbs 3ozs and was really, really long. So much for IUGR!

She’s a healthy 7 year old now, full of mischief and joy.

Here’s hoping for great outcomes for all

[Paranoidkaty]

I’ve just had my 23w growth scan (because I had high hcg) and the femur length is only in the 15th percentile yet the head is the 80th percentile. This can be totally normal (the consultant didn’t care at all) but can also be a soft marker for Down’s syndrome.
I just really really wish I’d chosen amnio instead of NIPT as it would have completely reassured me.
All the doctors seem so flippant - that everything is totally fine other than my hcg but I just have the most awful anxiety about it all that I can’t shake.
When you try and reach out to the midwives they don’t seem interested. They told me an amniocentesis isn’t recommended with a low risk NIPT, but clearly some others of you are being told it’s still a good idea.
I’m so lost I don’t know what to do anymore