Thanks guys. The genetic counselor discouraged us from today’s procedure as it would most likely replicate the blood work findings. Instead, the suggest amniocentesis but which can’t be done till 15weeks minimum, so I have scheduled that for the 27th. Meaning two agonizing weeks before any more information is available. And two more weeks of keeping my pregnancy under wraps to avoid having to explain. We have the inconclusive diagnosis of mosaic trisomy, meaning it’s possibly only in the placenta. But not necessarily. Our genetic counselor had never even had a family with this exact diagnosis before (apparently it accounts for 5% of trisonomy 13 diagnosis only), but she seemed very well informed. Tryin to get mentally prepared for the “two week wait” (much worse TWW) and whatever may come after. This is brutal.
@ssag So sorry for the news that you received from your test results and that you have to wait another two to get more answers. Waiting is so incredibly hard
Two more weeks? That’s insane! I’m so sorry you have to wait that long, I can’t even imagine what that must be like. Big hugs, and please take care of yourself as well as you can!
DS born 2/18/2019 DD born 4/1/2023 Baby #3 EDD 11/21/2024
@ssag I’m sorry to hear that scary news and that you have to wait longer to hear more news. I will be thinking of you and definitely come here for support
Thank you all. I’ve become a bit delusional believing everything will be ok, I can’t stop myself. I hope I’m not setting myself up to go through the devastation of accepting it all over again. Maybe it’s my brain protecting myself from the next two weeks. Thanks for thinking of me.
@ssag I don't want to offer false hope, but a college friend has a daughter with mosaic trisomy 13. She's 8 or 9 now and has physical health issues and some developmental delays, but on the whole is a happy and functional kid. Keeping my fingers crossed that you get good news in two weeks.
@ssag I was a NICU nurse for 10 years and have taken care of many babies born with trisomy 13. I've seen it both ways. I know one right now who is over a year old. I'll be thinking of you!
@ssag I'm sort of in the same boat you are. At the very end of July my Counsyl test came back as high risk for Trisomy 18. The ultrasound at that time looked mostly okay--the only exception being that the bowels haven't gone back inside the stomach yet, but it may have still just been too early. I'm actually going back today for an ultrasound and I think they're going to try and talk me into getting the CVS done. My husband and I have decided that we will terminate for medical reasons if the baby does have Trisomy 18, but we've decided to wait for the amniocentesis for a diagnosis. Since the blood test we took is the placental cells, it didn't make any sense to me to do the CVS since it tests the placenta cells as well. I feel like the amnio will be the best way for us to get the most complete diagnosis we can. I'm also scheduled to have my amnio on the 27th so this month has been sort of heinous. My best friend is getting married on the 24th so that has at least provided some distraction. This is our first pregnancy so I'm totally flying by the seat of my pants and doing all the poking around the internet I can. I'll be thinking of you on the 27th and hoping for the best!
@arcastro wow, we’re on a very similar path at the moment. No cvs, waiting for amnio, healthy(ish) early ultrasounds, and the big wait for the 27th. I’m so sorry you’re going through this too but glad you reached out. I will pray for two healthy babies. We had initially decided to terminate also but as it’s mosaic, it will be a more difficult decision if the test is positive.... it could fall anyway along a spectrum of healthy to severely disabled. Will you be able to get the early FISH results? I know trisomy 18 is one of those they can get the quick results on thankfully. How far along are you and had you announced yet?
@ssag Yes, they said we would get quick results in about 48 hours but the full results would take about a week and a half, I believe. They haven't mentioned anything that would give me any indication if ours is full, partial, or mosaic. It is a difficult decision and I don't look forward to making it even though we already know what we're going to do in the event the amnio comes back positive. Will the full results be able to tell you where along the spectrum yours will fall, or is that more determined by ultrasounds? I'm 13 1/2 weeks and I have announced. When I first got the blood test results I didn't want to tell that many people but since then I've been really open about it with those around me. I think it helps me to talk about it--otherwise I would just drive myself crazy thinking about it all the time. Everyone has been really understanding, so that's good.
@arcastro aside from what is indicated on ultrasound, I believe it’s difficult to predict the severity of mosaicism if the fetus is affected. Partly why our decision becomes more difficult, it’s definitely not black and white. We are trying to find out more information now but feel like our genetic counselor is putting us on hold until results come out. I get it but it’s infuriating, we need to details/statistics (likelihood of quality of life, etc) now so we can consider our options and come to an informed decision. Ive only told people about the trisomy who already knew about the pregnancy. I’m not ready to share/explain further until we know more. But it’s getting harder to hide. Still hard to believe we’re counting down to the same day, hope it’s a lucky day.
And to all those with kind words, it’s so appreciated. Means a lot to know people are rooting for us.
@ssag I kniw, I'd been lurking on the board but when I saw we were going through a similar thing and would have amnio on the same day I decided to comment. I had my ultrasound on Tuesday and the results were definitely not promising. The abdominal cavity has developed on the outside of the stomach and it looks like the heart is not developing properly.
@arcastro what did your doctor say about the ultrasound results? Is there still hope? Or is the ultrasound a strong enough indication to confirm the screening. You still have to wait till the amnio? This interim period is so hard, thinking of you.
NT ultrasound yesterday was good - neck thickness was well under the threshold they look for. Now just (impatiently) waiting for Panorama test results...
@ssag sigh, not great. I'm preparing myself for a positive amnio result. I took a couple days off work after the ultrasound to just process and be alone. Luckily I have a great group of co-workers and family and friends who are all super supportive so I know no matter what happens they'll help get me through this difficult time. How are you doing? One more week until the amnio. I'm keeping up hopes that you'll have good amnio results.
@lifeofboggs oh my goodness, please do not feel icky at all! I'm glad you were able to get the testing done and got the all clear and I'm happy for everyone on this board! This is just life, it has its ups and downs; without the downs, the ups wouldn't be nearly as sweet. I hope you have a wonderful pregnancy and I wish you and your family all the best!
@lifeofboggs oh my goodness, please do not feel icky at all! I'm glad you were able to get the testing done and got the all clear and I'm happy for everyone on this board! This is just life, it has its ups and downs; without the downs, the ups wouldn't be nearly as sweet. I hope you have a wonderful pregnancy and I wish you and your family all the best!
@lifeofboggs I actually feel a little bad we’ve taken an otherwise happy news board and brought it down a level. I agree with @arcastro, everyone’s news, good and bad, is just part of the whole thing. We’re all in this together for the time being. It’s a pregnancy board afterall, we know what we signed up for
@arcastro I’m glad you took some you time. I don’t know what’s the right thing to do in terms of time off and self care, especially in the case of loss/termination. I had a friend who miscarried at ten weeks years ago and took two weeks off of work. I was wondering what people do. It’s not exactly maternity leave but your body has been through a partial pregnancy and procedure. And it’s like if goes unseen. Although it’s is a reasonable distraction, I feel like I shell at work. There’s plenty to do but I’m so emotionally preoccupied I can’t make headway, and just don’t care. I’m the boss on my team and most people don’t know so I feel like I’m setting a bad example. The GC told us today that if membranes aren’t fused yet at our appt on the 27th (15w2d), well have to wait till Friday to try again. That means fish results won’t get to us till after Labor Day weekend. I know in the bigger picture it’s “only a week” more but for some reason I found that news unthinkable and it clouded my day. Every time I think about my pending appt, I think about yours too. Your confidence in getting through this difficult time is reassuring to me. My heart breaks thinking of anyone else going through this.
@arcastro and @ssag - this is exactly what this board is for - don’t feel guilty for posting about your own experiences about your genetic testing. I’ve never been through anything like this, but I’m here to listen and I’m definitely thinking of you (and I know I’m not the only one).
Re: Genetic Testing
MMC 2.12.11 @ 8w
PVM 5.8.12
GWM 3.17.15
RPM 2.21.19
BFP 6.8.2018 EDD 02.18.2019
We have the inconclusive diagnosis of mosaic trisomy, meaning it’s possibly only in the placenta. But not necessarily. Our genetic counselor had never even had a family with this exact diagnosis before (apparently it accounts for 5% of trisonomy 13 diagnosis only), but she seemed very well informed.
Tryin to get mentally prepared for the “two week wait” (much worse TWW) and whatever may come after. This is brutal.
DD born 4/1/2023
Baby #3 EDD 11/21/2024
Maybe it’s my brain protecting myself from the next two weeks. Thanks for thinking of me.
I’m so sorry you’re going through this too but glad you reached out. I will pray for two healthy babies. We had initially decided to terminate also but as it’s mosaic, it will be a more difficult decision if the test is positive.... it could fall anyway along a spectrum of healthy to severely disabled.
Will you be able to get the early FISH results? I know trisomy 18 is one of those they can get the quick results on thankfully.
How far along are you and had you announced yet?
I'm 13 1/2 weeks and I have announced. When I first got the blood test results I didn't want to tell that many people but since then I've been really open about it with those around me. I think it helps me to talk about it--otherwise I would just drive myself crazy thinking about it all the time. Everyone has been really understanding, so that's good.
Thinking of you as well, @arcastro.
MMC 2.12.11 @ 8w
PVM 5.8.12
GWM 3.17.15
RPM 2.21.19
Thinking of you both @arcasto@ssag
Ive only told people about the trisomy who already knew about the pregnancy. I’m not ready to share/explain further until we know more. But it’s getting harder to hide.
Still hard to believe we’re counting down to the same day, hope it’s a lucky day.
And to all those with kind words, it’s so appreciated. Means a lot to know people are rooting for us.
Love to you both
I had my ultrasound on Tuesday and the results were definitely not promising. The abdominal cavity has developed on the outside of the stomach and it looks like the heart is not developing properly.
This interim period is so hard, thinking of you.
MMC 2.12.11 @ 8w
PVM 5.8.12
GWM 3.17.15
RPM 2.21.19
i finally after fighting with my insurance for weeks was able to get my testing done
all came back healthy and it’s a boy. Looks like I’m officially going to be an all boy mom since we’re done after this!
MMC 2.12.11 @ 8w
PVM 5.8.12
GWM 3.17.15
RPM 2.21.19
@arcastro I’m glad you took some you time. I don’t know what’s the right thing to do in terms of time off and self care, especially in the case of loss/termination. I had a friend who miscarried at ten weeks years ago and took two weeks off of work. I was wondering what people do. It’s not exactly maternity leave but your body has been through a partial pregnancy and procedure. And it’s like if goes unseen.
Although it’s is a reasonable distraction, I feel like I shell at work. There’s plenty to do but I’m so emotionally preoccupied I can’t make headway, and just don’t care. I’m the boss on my team and most people don’t know so I feel like I’m setting a bad example.
The GC told us today that if membranes aren’t fused yet at our appt on the 27th (15w2d), well have to wait till Friday to try again. That means fish results won’t get to us till after Labor Day weekend. I know in the bigger picture it’s “only a week” more but for some reason I found that news unthinkable and it clouded my day.
Every time I think about my pending appt, I think about yours too. Your confidence in getting through this difficult time is reassuring to me. My heart breaks thinking of anyone else going through this.
BFP 6.8.2018 EDD 02.18.2019