1:2 edwards patau / 50% risk

[Sara249]

Head all over the shop so just need some honest opinions as not able to share with our families just yet. We have been trying for 3 years, 2 failed rounds of IVF. Fell pregnant unexpectedly. Just focused on getting to the 12 week scan. No sickness in pregnancy have felt fine. Normal 12 week scan, nothing flagged as a worry.

Combined screening blood result has come back and shown we are very high risk of T13/T18 - 50% chance. Very low Pap-A level. Lovely nurse today recommended NIPT as next step, saying that it could be my Pap-A level that is causing the high risk result. If that NIPT is also high risk we will for the amnio.

almost every positive story I have read has the risk factor as way less than 50% / better odds than ours.

nurse was straight talking and said that if the NIPT is also high then the likelihood is baby will be affected by either Edwards or Patau.

Surely if my Pap-A level is what could be causing this though (given nothing seen on scan), then the NIPT will also come back as high risk?

would T13 / T18 normally show on a 12 week scan, or is it typical that you would have a “good” scan at this stage with no obvious markers?

would love to hear any and all stories please, and don’t hold back as I am feeling quite unattached and would rather have some straight talking and honest advice from anyone who has been through similar or who might be more informed.

thanks so much

Firstly, I'm so very sorry you're going through this. I had a very long and difficult journey to parenthood too, so I really feel for you going through this 💔 I also had a baby who was born at 26 weeks who had Edwards syndrome and it was utterly heartbreaking. 50% chance is very high risk, there is no getting away from that, but having had the harmony (Nipt) done in 2 subsequent pregnancies, it is really quick and straightforward and although they can't claim it to be diagnostic, the results are statistically very accurate. I hope for a positive outcome for you xx

Sorry to hear about your struggles. I can only share my experience, I don’t know if it would be the norm or not though.

Our first baby had patau syndrome and the scan was the first flag. Lots of fluid behind the neck and some other markers. I’m not sure what the combined bloods were but nipt was 99.9% patau and an amniocentesis confirmed it.

Second baby: normal scan but combined blood screening was low Papp-a and a higher risk of T-13/18 (I can’t remember the exact PE recent now) but an nipt came back clear and baby was born healthy.

So from my experience T18 did show up on the 12 week scan whereas the low Papp-a didn’t have any effect on the pregnancy other than I had to take a daily aspirin. Was it just low Papp-a or were any other blood levels not in normal range?

Also ARC were a godsend to me with both my pregnancies, it could be worth a call to chat through everything with them.

https://www.arc-uk.org/

Ah OP. ❤️ It’s absolute torture. I’ve been there. Twice. Consecutive pregnancies. And in my case, the news wasn’t good. It was a very dark time. One pregnancy I didn’t find out until 26 weeks (the hospital completely messed up). The second, I found out much earlier.
That said, my friend had worse odds and her DS was absolutely fine and is now a healthy young man. There is ALWAYS hope.

ARC was my total lifeline. You may at some point want to join the forum but (as you’ll see on the site) that’s for later on. Just see how things go. There’s always room for hope. I sincerely hope that yours is a joyful outcome.

www.arc-uk.org/

Just to add, my 12 week scan was fine. The bloods were not bad but not good- borderline normal. A CVS wasn’t necessary apparently, and the consultant wasn’t concerned because my results were borderline. I can’t recall the numbers. It’s been 13 years now. 💔
They cancelled my 20 week anomaly scan twice (for staffing reasons) and eventually rebooked it at 24 weeks. So, by the time I had the amniocentesis, I was so far into my pregnancy. It was a dog’s dinner, to say the very least. The hospital really mismanaged the screening and diagnosis. 😔

I'm so sorry. I had a higher chance screen for the same syndromes but with lower odds, and all was OK thankfully. I just wanted to say that the NIPT is a different form of testing and it won't be skewed by the low papp a. I do remember the midwife saying that whilst very accurate for T21, it's less so for 13/18 so maybe worth asking about that.
They also told me that usually there is some indicator on the scan with these syndromes, though of course that is not always going to be the case.
Another plug for the ARC, I bawled down the phone to them for hours while we waited for the NIPT results, they really were very helpful
Really hope it's good news for you OP

thanks so much for the replies and advice. NIPT has come back high risk for Edwards. As we would have to wait a few weeks for the diagnostic needle test / further scan, could I get a sense from those who may have more more experience on this as to whether the NIPT would also be affected by my PAPP-A level being so low?

My PAPP-A level was abnormally low / lowest score the nurse had seen, could that be skewing the NIPT as well as the combined screening?

Or would a “very high” combined screening result for Edwards followed by a high risk NIPT for edwards indicate it’s more likely baby than my PAPP-A?

I know we won’t know for sure for a few weeks, but preparing myself would really help I think. And at the minute that is what keeps tripping me up, whether the NIPT could be high risk due to PAPP-A level, or whether it’s more likely to be baby.

age 35 if any help.

thank you again for your kindness

My niece was born with Edward’s Syndrome. My sister found about around 12 weeks as there were some obvious signs on the scan. My sister was in her early 20s at the time. She was a precious little miracle and lived for several months but I understand this is unusual.

I’m sorry you’re going through this. 💐

I'm so sorry you are going through this. Do chat this through with the screening midwife and/or the ARC. I understood that the combined screen and the NIPT are different entirely. The combined screen is an algorithm based on NT and the papp a /hcg level, so the likelyhood based on statistics of others with similar results to yours. The NIPT tests the actual dna from your blood, so the papp a doesn't skew the result because they are looking at actual genetic material rather than hormone levels. I had read that it is not as accurate for Edwards and pataus as it is for downs syndrome though in terms of false positives. Wishing you strength x

The NIPT is likely to be accurate as it looks at the genetics of the baby and will be unaffected by the Papp A. My daughter had T18, also a pregnancy after a long period of infertility. Diagnosed at 23 weeks via amnio and we chose to continue the pregnancy.

False positives for T18 do happen on NIPT but they’re not that common and I would be planning for that outcome. I’m so sorry you’re going through this.

@Sara249

I’m really sorry to read this, and I so hope it worked out for you. This journey can be so cruel. I’m currently 14w pregnant and got the call this morning with exactly the same outcome as you. A 1:2 chance of Edwards/Pataus and extremely low PAPP-A (0.05). I’m feeling so numb. I think we’ll go for the amnio as we just want to know 100% and not drag anything out, I don’t think I’d trust a NIPT and be able to let go of my fear even at 99% accuracy. May I ask, what was the outcome for you? Really hope it worked out. Sending love xx

I went through this in may this year. We had a high nt of 6.6mm so not a good outcome for us. But here if you have any questions. Xx

I’m so sorry, it’s absolutely gut wrenching isn’t it. We had an amniocentesis on Tuesday and got the results that baby girl has Triploidy 😔heartbroken doesn’t even come close x

Oh I’m so sorry. Our little girl had pataus. On another note i am currently 26 weeks pregnant with a healthy baby boy. We got extra testing due to the loss. I fell pregnant within 3 weeks. X

Im sorry to hear about your little girl 💔 but really pleased to hear you’re successfully pregnant again. I’m sure it’s been an anxious time for you but how great that you’re well over halfway! X

I’m so pleased to hear you’re pregnant with a healthy boy!
i had my 12 week scan last week, then a follow up 3 days ago at Harris birthright centre kings college London, and sadly the scan did not show good results. I received my CVS results and my much loved and wanted baby has Patau’s syndrome. I am totally devastated. I’m having to sadly terminate this pregnancy which is totally heartbreaking.

I had an early miscarriage in July, and now having to terminate this pregnancy at 13 weeks. I’m so scared to try again as I can’t take any more heartbreak.
i have a beautiful 16 month old son and I’m so very lucky to have him.

Aww I’m so sorry to hear this. We got as far as the cvs test (2 days after the 12 week scan) but her heart beat had already stopped within those two days. I had a d and c a few days later. Going home with my baby still inside was tough. It did help to no there was a reason and it’s nothing we could have done. Although like me, you will prob search the internet for weeks looking for reasons why that chromosome split 3 times. It really is just bad luck 😢 I hope everything does work out for you. Don’t give up hope xx

Sounds like we had a similar timeline.
its just devastating. It is reassuring to know it’s nothing we have done to cause this, but yes, you can’t help to search google for reasons how and why.
It’s purely bad luck. The worst luck.
I go back to the hospital tomorrow for the second medication and will have to go through a labour and give birth to this tiny little baby. The thought of it is unbearable. I have no idea if baby is still alive or not after the tablet I had to take. Either way, I’m going to bed now for the last time with baby in my belly. My heart literally breaks. x

Oh no I feel for you. One more day and this will be over with. U will get your rainbow like me. I hope it goes as best it can for you and is over with quickly. X