Edwards / Patau with extremely low hcg level

[SorellaLuna]

Hi there, first time posting. I’m not sure if I’m in the right place. I’m 42 and pregnant for the first time. Had 12+2 week scan last Thursday and today received the news that baby has a risk of 1:25 of Edwards Patau. Scan results were normal but blood markers showed some crazy results. Papp-a Mom 0.75. More worryingly though hcg MoM came in at 0.12 which is just 5 mIU/ml. These would be the levels of someone at three weeks pregnant. My levels should be min. 25,700 at this stage. Midwife would not tell me whether this means the pregnancy is no longer viable. She offered various tests for further Edwards / Patau screening and we opted for the NIPT. I’m just so confused. A hcg of 5 with a perfectly normal scan seems impossible. Am I missing something or is this the beginning of the end? I can’t think straight. This is my first and last chance of having a baby and it seems it’s not meant to be. Anyone out there with a similar experience?

Hi Im in same position right now!! What happened? I hope you are ok xxx

I’m so sorry you’re going through it right now. Sadly for us it wasn’t meant to be. I hope your situation is different and wish you strength and positivity during this difficult journey x

Oh no Im somsorry sending a massive hug. Ive got scan and cvs tomorrow. Trying to stay positive but I think the babys going straight to heaven 😭❤️

I am so sorry you went through that sadness and it didn't turn out more positively for you @SorellaLuna. I am currently in a similar situation to which you were in (low HCG 0.22, low Papp-a 0.21) but baby also has a soft maker of higher than normal NT measurement. Worrying out my mind as you can imagine, the waiting is excruciating for CVS results.

If you are able to talk about your experience and if the NIPT gave you the answer or if you had further testing to find out what was happening?

@Ziggyisalive I am sorry to hear you are also going through this. I was wondering if you had any update on your situation?

Looking to talk to ladies who have either been through similar situations 🙏

Hey my daughter Beatrix died at 16weeks gestation. She had trisomy 9. Xx

I'm so so sorry to hear this @Ziggyisalive. Thank you for letting me know though, I appreciate this must be extremely difficult.

Yeah its very hard but god is with me 😊I hope you don’t have to go through it. What is your situation if you want to tell me? Xx

@Ziggyisalive At the 12 week scan the baby had a raised NT measurement of 4.4, my bloods then came back we high risk. Low HCG, low Papp-A. Baby were given the odds of 1 in 5 chance of Edwards or Patau.

We had a CVS done last week and today the midwife called me from the fetal medicine team to tell me they had found trisomy 18 (Edwards syndrome) in the placenta however they need to do further tests to see if the baby has it too. They've told us it's 'highly likely' and that this is the 'most likely outcome' especially with all the soft markers and now having it confirmed in the placenta.

We aren't very hopeful of the outcome after the negative results to date, but need to wait until next week to get a clear confirmation. It's a very sad situation and I feel for anyone else that goes through this turmoil. I never expected anything like this to happen when we got pregnant, this is our first baby so it's been quite blindsiding. 😞

Omg Im so sorry to hear that. If you ever want to chat my IG is amanda_otp. Im a member of a lovely group called tommys which has helped me a lot. I hope you don’t mind me saying this but try to enjoy every day you get with your baby during the pregnancy. Make it as special as you can. I got -6 weeks with Beatrix that was her whole life. Every day we were together and I loved her with everything for every second. 😊 Im grateful I got that xxx

16 weeks

Just wondering if anyone else has been in the same position and gone on to have a healthy baby?
I am currently 13 weeks pregnant, had an early scan at 8 weeks 5 days and baby looked perfect, at my 12 week 3 day scan they picked up the baby’s bowel was growing outside the tummy and NT fluid was 3.8mm, I got sent to st georges the next day for tests having a cvs and they also discovered the baby had 5 fingers and a thumb on each hand :( with all the things combined they said it’s pointing to patau syndrome. Cvs results came back yesterday and it is patau syndrome. I am devastated as now have to wait two weeks for termination which is horrendous.
I was just wondering has anyone been in a similar situation and gone on to have a healthy baby as I am now worried sick and will be if I fall pregnant again.

Its highly unlikely you would have another baby with Patau. You are likely to be the same level of risk as if it had never happened if that makes sense. My friend had a baby with edwards then a typical baby afterwards xx

Thank you xx

Yes I had a healthy baby after having a baby who died at three weeks old with Patau.
My thoughts are all with you ladies.

Aww bless you. Thank you so much x

Hi @Ziggyisalive I'm in a similar situation, very high NT and a few other markets of Edward's. Now I'm just waiting for the CVS results and it's brutal.

Hey there! How are you holding up? It is absolutely brutal yes. If you have any questions or you want to talk please message on here Im happy to speak about it all. Just take it hour by hour and allow it all to unfold. Try not to project or imagine things because it doesnt happen how you think anyway xx

Did they pick anything else up on ur scan? They picked up a few things on mine such as bowel growing outside tummy and an extra finger on each hand :( I’m still waiting for the termination after my CVS came back as patau syndrome, it’s heartbreaking and the hanging around is the worst part. Good luck I hope everything works out well for you xx

Thanks @Bayleyk they picked up a single artery umbilical cord, some bowel growing on the outside, and some fluid in the lungs. I was really hoping it would just be high NT, but there seems to be a lot of signs that something is seriously wrong.

Yeah my daughter had fluid down the spine and in her tummy. When she was born there was a big growth on her butt cheek. She also had a problem with her chin it was like the lower jaw didn’t grow properly and her nose was too big. She had Trisomy 9. So our cvs came back the first part was normal then they do the microarray.. that said trisomy 9 and we were so excited because I know some kids do survive til birth. But then I started bleeding an hour after they told us. She was born a day later. Im glad we let it all happen naturally I got to have her with me her whole life. 16 weeks of loving her even though she never took a breath that was still her life. ❤️🕊

Ahh bless you, it really is the worst feeling in the world nothing can prepare you for the pain and worry you feel. I really hope everything is ok for you 🤞🏼 xx