Confined placental mosaicism

[Trying2stayhopefull]

Currently going through hell and wondered if anyone has experienced something similar to me with a positive outcome.

• We have had high risk harmony (due to high hCG and low PAPP-A)
• Slow increase NT highest being 3.2
• CVS test showing 60% Mosaic Downs in the placenta
• In the wait (3 weeks) for amino
• Baby heart has been checked and is almost perfect
• Baby has a nasal bone

Has anyone been through similar and got the result of Confined placental mosaicism?

Thanks in advance for any advice
X

@happygolucky20 🤞🤞🤞
Don’t loose hope as only the FULL amnio result (that you are going to get in 2-3+ weeks) is going to give you the most relevant diagnosis. Even the initial amnio might not be enough (but if it’s going to show all clear the wait for a full result is going to be sooo much easier).
Apparently the initial test is a fluorescent one and very rarely (but some sources I’ve read have mentioned it) diploid (healthy) cells can (but don’t have to) look trisomic (we had 6 of them in our initial amnio). When the full karyotype was cultured (twice) none of these were abnormal.

Hold on tight, you are almost there and it is starting looking promissing again. A false negative NIPT is very, very rare. And a USG only gives 60-80% certainty of a healthy/not healthy baby.
I hope our Girls are going to be fine. I know that I will have to apologise to mine one day as even though I promissed myself many years ago that I will never doubt my kid, I lost hope for a few days as my results had been pointing towards Edwards and I also miscarried the child last year (we didn’t know why) so it has crossed my mind my husband and I have some genetic clash and hence the second problem.

Please let me know when your results are back.
🤞🤞🤞

Sending best wishes

It’s going to be a really long two weeks ☹️ Trying so hard not to google but it’s incredibly difficult. 🤞

initial amnio is clear!!!!

@happygolucky20 - amazing News!

@JoAska sadly our worst fears were realised and our baby girl has a very rare genetic disorder. We are booked in for a tfmr on Monday.

Thank you for your support and I wish you and your baby all the best xxxxx

I'm so very sorry to hear this, best wishes for your future healing and recovery

Hi @happygolucky20, I am so sorry to hear this. I wish you strength and for you to be surrounded with people who will try to ease your phisical and then mental pain.
I will be thinking about you on Monday.
Once again, i am very sorry this has happened to you.