advise please - amniocentesis test

[Ruthsoph]

I had a CVS test a few weeks back and the first part came back all clear but the second part has come back with cells found relating to Mosaic Downs Syndrome – The hosp told me that the CVS tests the Placenta so I need to go back to hosp for an amniocentesis test where they take some fluid from abound the baby to determine the situation 100% - has anyone been through this or anything similar ? Thank you xx

I had an amnio Monday took them longer scanning and setting up then doing it the actual test took about 2 mins to do I'm waiting on my results

they have told me results can take 10+working days - did they tell you the same?

No initial results for t18/13/21 and the sex will take 1-3 days then the full report is 2 weeks that tests for other chromosome issues xx

@Ruthsoph that is a particularly complicated situation. There are 2 possibilities here which can only be explored by amino (or once baby is born). One is that it is possible to have trisomy 21 only in the placenta, not in the baby which is why the double testing is used on the CVS sample . the quick test won’t pick that up. The other possibility is that your baby has trisomy 21 in only some of his/her cells.
What you do now, whether you opt for amino depends on what you feel the results might mean for you. If you would plan to continue your pregnancy you may well conclude that the additional risk of doing the amino is not justified. Testing can be done after birth (if you want it). If you would be inclined to end the pregnancy if baby had partial trisomy 21 that is obviously justified.
This is a hugely personal decision. Have you been offered specialist support to explore your feeling & make the decision?

@Nanmumandmidwife - Thank you for replying. We have decided that if the baby has partial trisomy 21 that we would end the pregnancy - and i kinda feel that the odds are really stacked against us but feel i need to see it through so we know 100% all the information.
The hosp said that the Genetics team would call me at some point.
I had the harmony test at 10 weeks and it came back 1/10000 so i just assumed everything would be good so we took our daughter (5) to the 12 week scan so now she knows mummy is having a baby and its just heartwrenching knowing that she will be disapointed

@Nanmumandmidwife have you ever come accross this before where the placenta had the abnormality and the baby was fine?

@Ruthsoph Yes, I have seen trisomy 21 in the placenta only. I am very glad that you are going to talk to someone from genetics because this is very complicated. This is not a decision to make without very detailed discussion and thought. Do PM me if you would prefer to discuss privately.
What led to you having the CVS? I assume there was something on the scan which raised some concern at 12 weeks?

@Nanmumandmidwife The NT was 4.8mm - experiencing trisomy 21 in the placenta only was the baby perfectly ok? i also worry that if this test come back ok then 5 weeks down the line something else may come up

@Ruthsoph If there is placental trisomy it can affect baby's growth. If it is confirmed to be that the genetics team will need to talk it through and give advice because it is an area of developing scientific understanding/knowledge.
Have you been advised about having a detailed cardiac scan for your baby at around 17 weeks (assuming you continue)? An NT of 4.8mm can be a marker for an issue in the formation of the babies heart. It can also be of no relevance for contining health at all!
Out of interest, which brand NIPT (SAFE, Panorama, Harmony etc) did you have and what was the fetal fraction (percentage of fetal cells?)

I had a heart scan last week at St Thomas in London on babys heart and they were satisified that all was ok - they want to see me at 20 weeks just as a safe guard.
It was called Harmony and the Fetal cfdna was 14.7%

Hi @Ruthsoph I hope you are well. Can I ask how things turned out for you? I’m potentially in a similar situation much further along at nearly 36 weeks and feeling very concerned and anxious. Xx

@LAURAPAX hello - our story didn’t get a happy ending - our daughter had mosaic Down syndrome and will further investigation her heart chamber was leaking
we decided on a medical termination - little Violet was born on 16/11/19
we have since had a son called Ethan who is 11 months and a joy
at 36 weeks surly they can tell if anything is amiss? Sending you love xx

I had an amnio on the 15th Jan. They said 3 working days, so I had to wait over the weekend and got the results on Monday 20th. It feels like the longest few days wait ever.

@Ruthsoph im really sorry to hear about your darling Violet - that’s incredibly hard to go through. So wonderful to hear about Ethan I am sure he has brought you lots of love and smiles : )

The reason for all my late investigations is slow and dropping percentile growth. Nothing advertly obvious has been noticed on 20 week (apart from being in lower growth percentile 20%) and 34 weeks after I went to triage for reduced movements had a scan and noted baby’s restricted growth and estimated low birth weight. My NIPT test results came back 3:10,000 (low risk) at 10 weeks but my NHS came back 1:280 adjusted risk. I already had my NIPT test results at that point so didn’t really think too much into it. It’s only now going through the details and understanding that although it says low risk I am higher than a lot of woman my age, my bloods and NT were within ‘normal’ but on the higher end. My friends NHS one came back at 1;5000 and she is the same age, I just didn’t think about it all at the time as was so relieved to finally get to a 12 week scan and then the 20 week one we skipped out when sonographer said all good. Didn’t even think to question any of the detail. The screenings both said low risk so I was super happy after suffering two miscarriages (we’ve been trying for our first since 2022 and I’m now 38) this was a spontaneous conception after failed ivf too. I just have an awful feeling something is amiss and that I’m going to be the 1:280 with a DS diagnoses at birth and it’s too late to know for sure. It’s really struggling and don’t know if I’m completely spiralling or whether my fears have foundation. I have another growth scan tomorrow so will know more then. Thanks for sharing your story xxxx

@Alwaysanna hopefully all ok xxx