Trisomy 22 in placenta after CVS

[LCKTT]

Hello, I'm new to this but wondered whether anyone had any experiences which may help and which they'd be willing to share. I'm 17 weeks pregnant and following a CVS scan we discovered that we had 100% Trisomy 22 in the placenta. Usually Trisomy 22 would miscarry within the first 12 weeks and the abnormalities, both physical and structural, are so serious as to make the baby not viable. At 16 weeks my baby girl looked so 'normal' that our doctors are hoping that the Trisomy 22 is only in the placenta and not in the fetus. This is so rare that there is very little literature for us to read and what we do know is that however many tests we do we will never be able to be sure that the Trisomy 22 is not in part of our little girl. Has anyone had any similar experiences or know anything about this which may help? x

Sorry, should have also mentioned that we have now had an amnio which we are waiting for the results of. x

Just wanted to sympathise. No that is rubbish. We had a 20 week diagnosis of something different and this is a horrible time for you. Our screening nurse was very good though. hope yours is as supportive as ours was. Just reread your post - we were/are wait and see. DS is 18 mths now and we still have to have him checked regularly for developmental problems.

Meant, I know that is rubbish (as in no help!)

Honestly, we appreciate just reaching out to people with similar experiences right now. Being asked whether we want to terminate our longed for little girl feels like an impossible question when we can not quantify what quality of life or length she may have. (average life expectancy of true Trisomy 22 is reported as just 4 days)

So sorry LCKTT - awful situation. Although not similar I had a very protracted period of time (about 9 weeks) between the doctors thinking there was a problem with my second son and confirmtation that his condition was not viable with life. I terminated at 21 weeks simply because it was 100% sure he would die, either in the womb or immediately at birth. It must be so hard though when you dont have that certainty, and there is an ongoing denate about how serious it is. how much more information will the amnio give you?

Hi LCKTT, don't know much about this except that my DP's brother's wife had the same result (don't know if it was T22 but it was something that may have been just in the placenta) - anyway, DP's nephew turned out just fine, so fingers crossed for you. Good luck, tough situation.

Chooster / SandRs, thank you for your kind messages.

The amnio will tell us whether the cells that they test there have any T22 but obviously it will be impossible to know if there are any T22 cells in any part of the baby unless we could test every single cell.

I it comes back as 100% T22 in the AF then we have to probably accept that she won't live, if it is 0% we still run a risk that it is in her brain.

There is so little written about this that we are just trying to find anything out so that we can try and assess probabilities as best we can.

My friend had a mosaic result (not trisomy 22- a different one). It was just in the placenta and her baby was fine.

Unfortunately I think this is a situation where it will be really hard to assess probabilities because it will be hard to get the information you need because it's probably not known. Given that the abnormalities that go with trisomy 22 are usually very serious (leading to early miscarriage) I think the fact your baby is growing well is a really good sign. Hope you don't have to wait long for the amnio results.

As your little girl is growing normally is it possible that you conceived twins, one of whom had Trisomy 22 and has been lost? Very much hope you get good news - have you had a specialised cardiac scan? You should be able to have one at the stage you are at and they can see the heart and it's functions very well. If that is normal - that has to be good news.

Thank you for your comments and thoughts. Hopefully we will get the amnio results this week. We have everything crossed!

Good luck LCKTT - I really hope you get good news

Hi, I'm experiencing this exact same thing right now. All ultrasounds have been normal. The last one was yesterday, right before my amniocentesis. The CVS was done about 2 weeks ago and the short-term culture diagnosed my baby as having complete trisomy 22. I'm waiting on the results of the long-term culture and had an amniocentesis done yesterday for more information. I hope everything turned out o.k. for you LCKTT.

LCKTT - I don't have any advice I'm afraid but my first pregnancy had to be terminated at 21 weeks due to Trisomy 18.

We didn't find out until the 20 week scan - this was 11 years ago, but the decision to terminate was the hardest we've ever made. We found trisomyonline.org very helpful, and the support we received from the screening team was invaluable.

I shall be thinking of you and hoping and praying that the trisomy is only in the placenta - good luck xx

have you posted on the ante natal tests/choices forum on mums net? There are lots of people with different experiences related to testing of one sort or another?