Wolf87 Posted December 23, 2020 Share Posted December 23, 2020 Hi guys I got call from the genetic counsellor today and they picked something up with one of the rarer trisomys (???whatever they look for), something about chromosome 11. I was at work and overwhelmed and didn’t really take in much - I have to go for an amino. I will ring back tomorrow to get some information but has anyone ever had anything like this? Quote Link to comment Share on other sites More sharing options...
IamtheMumma Posted December 23, 2020 Share Posted December 23, 2020 Yes although a different issue. Still a chromosomal abnormality. 1st - Don't google just yet. You'll freak yourself out. Wait until you have all the information after your phone call tomorrow. 2nd - You don't have to have an amnio. It is an option if you wish to investigate further. Everything is a choice. 3rd - You didn't cause this. It is a random fluke of nature. Potentially, one of you might have the gene mutation and have passed it on but its not like you knew and choose to.Most importantly, be kind to yourselves. Quote Link to comment Share on other sites More sharing options...
LifesGood Posted December 23, 2020 Share Posted December 23, 2020 I've had a pregnancy involving a trisomy for a rare chromosome but not that particular one, and another pregnancy with markers indicating a high risk for a trisomy.Its quite important to understand what it means before you decide on next steps, as [mention]IamtheMumma[/mention] says - you don't automatically have to have an amnio. Wait until you have called them back tomorrow for a more detailed conversation when you aren't distracted and caught off guard.There is a huge spectrum of trisomies / partial trisomies and potential implications of them - from almost no impact on the baby through to severe and beyond. When you speak to them they can give you information to clarify the situation. I agree it isn't worth googling as the internet is full of confusing and technical info that doesn't really give you any answers about what it means for your baby.Sending you good vibes and hugs, hope tomorrow comes quickly. Quote Link to comment Share on other sites More sharing options...
Sharalanda Posted December 23, 2020 Share Posted December 23, 2020 Hi [mention]Wolf87[/mention] I don’t have experience with trisomy 11 but a different one. Just wanted to say that I’m thinking of you and I hope you get some more clarification tomorrow x Quote Link to comment Share on other sites More sharing options...
Ozgirl Posted December 23, 2020 Share Posted December 23, 2020 I'm sorry Wolf. I agree - don't google.There is not rush for anything - and you don't HAVE to do anything, Call back at a better time for you - hopefully with your partner present. Discuss next steps and maybe consider a formal appt with a genetic counselor. before deciding next steps - whether you have the amino or not. Quote Link to comment Share on other sites More sharing options...
Pip Posted December 23, 2020 Share Posted December 23, 2020 My post may get deleted, as I apparently do not belong in this area, even though I have being through things I comment on.Call the genetic counsellor back and have a list of questions you want to ask ready. My personal experience and advise would be, if the counsellor is saying an amnio is the next step listen to them and their reasons. However, if you are going to continue the pregnancy regardless of what the outcome then don't have the amnio. BUT do as much research and preparation before the baby arrives, have in place and ready to go early intervention specialists, have back up plans in place. And whilst this is not pleasant even plan for the worst case scenario. It sounds harsh but it will take off the pressure when the baby arrives and you are overly emotionally having to make what could be split second decisions.If you have the amnio and choose to end the pregnancy, please do not feel guilty, sometimes the results leave you no option. You can google, sometimes it helps and sometimes it prepares you for the outcomes of the call. Don't make decisions based on google though or take everything as being correct and up to date, things change rapidly with neonatal care. Quote Link to comment Share on other sites More sharing options...
Wolf87 Posted December 23, 2020 Author Share Posted December 23, 2020 Thanks for all your support and advice guys. GC called back this morning - apparently the chance of it being a true positive is 1-2% as it is showing a whole other chromosome - which would usually have resulted in a miscarriage by now, or severe abnormalities at the brief scan I had before the NIPT. But it could be other stuff, apparently still unlikely but worth looking into.My apt for my 13 week scan has been changed to later in the day so a specialist doctor can be there for a consultation and have a look at the scan - hopefully I’ll know slightly more then?If the chances of something severe being wrong are there I would be having an amnio as the chances of miscarriage are less than the chances of something being wrong if that makes sense. My mental health would not survive not knowing.*trigger warning* If I have to medically terminate I think this will be the end of TTC#2. And I’m not thinking about that until I have to as I will go crazy. Just wish it wasn’t Xmas and I could chuck my head into work and not have to see anyone socially.Thanks again Quote Link to comment Share on other sites More sharing options...
Sharalanda Posted December 24, 2020 Share Posted December 24, 2020 All of that is totally understandable wolf. It’s a stressful and nerve wracking time when you can’t get all the information straight away with something like this. The wait till your next appointment will feel like forever so do whatever you need to do to get through until then. My experience with the amnio was that it wasn’t too painful and it was over fairly quickly. Just don’t look. Feel free to pm me if you want to. Thinking of you x Quote Link to comment Share on other sites More sharing options...
Gabbitz Posted December 25, 2020 Share Posted December 25, 2020 I’m sorry to hear your news wolf. Stressful at any time and super difficult at Christmas time.We never had trisomy issues, but with my daughter’s heart issues, they wanted to do genetic testing to see if there were any other factors that might need to be dealt with upon birth. When we asked, they indicated that it would be repeated after birth anyway as that’s a more accurate result. So we didn’t get the amino done. I hope you’ve been able to have a good Christmas despite your recent news. Big hugs being sent virtually your direction. Quote Link to comment Share on other sites More sharing options...
Phillipa Crawford Posted December 26, 2020 Share Posted December 26, 2020 I had an amnio for DD2 20 years ago (so they will be much better at it now!) .At that stage the 2 tests they had done- neucal fold was great but bloods indicated significant issues so we decided on an amnio to make sure.It was quick and simple - the only issue I had was the radiologist saying "Don't you want to look at your baby?" Errh no, I was having this as I might have to terminate. Fortunately all was OK, even though I fell down the front steps that afternoon.Wishing you all the best and hoping you still found some joy in Christmas. Quote Link to comment Share on other sites More sharing options...
Wolf87 Posted February 5, 2021 Author Share Posted February 5, 2021 Just for anyone reading along - got the full amnio/microarray results back today including full chromosome studies, micro deletions, uni parental display studies - all genetically as they should be. Looks like it is a case of confined placental mosaicism. I’m so fucking relieved - I am 18 weeks and feel like just now I can breathe and be excited. Hopefully my placenta doesn’t play up too much, as CPM can cause issues. But a load has been lifted. Quote Link to comment Share on other sites More sharing options...
IamtheMumma Posted February 5, 2021 Share Posted February 5, 2021 Wonderful news!Placentas are brilliant organs. They know to chuck all the junk into them to protect the baby. My DS's placenta was a lot worse than his actual chromosomal makeup (think 80% fucked up verse his 40% mixed up) Quote Link to comment Share on other sites More sharing options...
Feebi Posted February 5, 2021 Share Posted February 5, 2021 [mention]Wolf87[/mention] Great news. That must be a huge relief.Will you be monitored more closely? Quote Link to comment Share on other sites More sharing options...
Andi Posted February 5, 2021 Share Posted February 5, 2021 Oh I'm so relieved to see this! I've been looking out for your update. So happy Quote Link to comment Share on other sites More sharing options...
Wolf87 Posted February 5, 2021 Author Share Posted February 5, 2021 Wonderful news!Placentas are brilliant organs. They know to chuck all the junk into them to protect the baby. My DS's placenta was a lot worse than his actual chromosomal makeup (think 80% fucked up verse his 40% mixed up) It’s crazy isn’t it how it all works. The science is amazing. Hope all is well in your case. @Wolf87 Great news. That must be a huge relief.Will you be monitored more closely? There will be a doctor at my 20 week scan, and I think they said if all looks well then they wouldn’t need to. But I had Gestational Diabetes with DD, so I’ll probably get that again and be watched closely with that anyway Oh I'm so relieved to see this! I've been looking out for your update. So happy How are you getting on, must be getting close now! Quote Link to comment Share on other sites More sharing options...
Andi Posted February 6, 2021 Share Posted February 6, 2021 I'm doing well thanks [mention]Wolf87[/mention]! 33 weeks and still at home, I'm shocked. BP and GD well in control with meds. Scans are saying the boy is 98th percentile and the girl 70th, which is a bit hard to believe given the small size of my previous babies So it will be interesting! Should be here some time in the next four weeks! Quote Link to comment Share on other sites More sharing options...
Blondie Posted February 6, 2021 Share Posted February 6, 2021 Great news Wolf87. Hopefully you can start to enjoy your pregnancy a little more. Quote Link to comment Share on other sites More sharing options...
Wolf87 Posted February 6, 2021 Author Share Posted February 6, 2021 I'm doing well thanks @Wolf87! 33 weeks and still at home, I'm shocked. BP and GD well in control with meds. Scans are saying the boy is 98th percentile and the girl 70th, which is a bit hard to believe given the small size of my previous babies So it will be interesting! Should be here some time in the next four weeks! Ahh that’s so close!!! Previous bubbas were on the smaller side? You must be massive good luck and I can’t wait to see your update! Quote Link to comment Share on other sites More sharing options...
emmbop Posted February 7, 2021 Share Posted February 7, 2021 So glad to see this update [mention]Wolf87[/mention] !! Must be such a huge relief. Quote Link to comment Share on other sites More sharing options...
Wolf87 Posted February 7, 2021 Author Share Posted February 7, 2021 So glad to see this update @Wolf87 !! Must be such a huge relief. It sure is! I’ll stick my head back in the DIG soon Quote Link to comment Share on other sites More sharing options...
emmbop Posted February 7, 2021 Share Posted February 7, 2021 So glad to see this update @Wolf87 !! Must be such a huge relief. It sure is! I’ll stick my head back in the DIG soon Oooh good, it's pretty quiet over there! Quote Link to comment Share on other sites More sharing options...
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