[~A2~]

Hi all

New thread time

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Regards

Ali

[zackcat]

Just thought I’d give an update on where I’m at;

We had our final geneticist meeting yesterday and am almost 100% comfortable with our decision to take the plunge and continue this pregnancy and hope for the best. There are so many good indicators about this pregnancy, that we have much greater odds of her being ok and normal, than not. It’s been a horrible journey to get to this place, but with the anti-depressants kicking in I am feeling much less anxious and in turmoil about it. We will stay under the care of the Fetal Medicine Team and still have frequent scans to keep an eye on bub due to the placenta having 50% of cells with the extra chromosome ring marker. It feels weird for DP and I to look at each other and say “we’re having a baby” after not knowing for so long. We are so behind with buying stuff or learning about stuff – we have 1 teddy bear and that’s it!

The final result of what they found is something known as sSMC. It’s estimated that 2.7million people have it with one chromosome or another and approximately 70% of affected people have completely normal lives. The fact that bub looks good physically and internally all her organs appear normal, plus the fact she is growing well are all good indicators that she will also be mentally well. They will test her cord blood at birth to see if the abnormal cells are in her blood, but it’s pretty difficult to do any other tests apart from looking out for normal milestones. This pdf explains it pretty well although ongoing impacts are not very well documented due to it being so rare - http://www.fish.uniklinikum-jena.de/fish_m...28Unique%29.pdf

BIG Thanks to all of you for being so supportive and understanding with me for the last few months

[nikkibaby1]

Hi all. Im not sure where to post this so maybe if its in the wrong place someone can point me in the right direction.
I am currently 20+5 and had my morph scan last tuesday. Before i say what they found i will say my 13 week nt scan came back low risk but they did find a aingle umbilical artery.
Anyway so i went to the hospital to get my morph results and have been told i now have 2 soft markers and need a level 2 scan. My 2 soft markers are the single artery umbilical cord and a choroid plexus cyst. I am freaking out that the baby might have trisomy 18 even though my nt came back at 1:33000. The doctor told me most rimes it turns out ro be nothing but they just need to check all the organs at a higher level of utrasound. Baby is growing at the apropriate rate all between 19w and 21 weeks.

[MrsBobby]

Zackcat, I have nothing else to say!

Nikki, do the docotrs mean they are softmarkers for Trisomy 18? Are they just doing a scan or have they offered an amniocentesis?

[rainluv]

Hi all!

I am so glad there is a support forum for this! I have been driving myself crazy trying to find a forum with current posts on the subject.

Anyhow, I'm joining you here because after my NT scan and blood screening, my results came back as:

T 21 1:2
T13 1:13
T18 1:235

hcg was 3.18, papp a was low, but I don't remember the exact number. My scan revealed a "thick measurement," but no one told me exact numbers. The Dr. told me on the high end of average, maybe a little over. He then checked the heart and abdomen for what seemed like hours (it was about 30 minutes), but didn't give any detail. They only mentioned the NT result and that I would have to come back in a couple weeks to check the heart because it was too soon to see anything clearly (I was 13 wks, 1 day.) Of course this was before the blood test, so I wasn't too worried and didn't ask questions. I got a call the next day that I needed to come in for further testing and that's when I learned my devastating odds.

Needless to say, I'm a mess. I had my CVS on Wednesday and was hoping for a phone call on Friday, but no such luck. I'm actually feeling a little better today knowing that no bombs will be dropped, although I'm now reading into the wait as "bad news." I have an appointment Monday for another ultrasound to check the heart and can't help but think that they want to tell me in person. Had it been good news, they would have called. I know I just made that up, but I can't help myself. Everything means something in my head right now.

What an emotional roller coaster this is. Bouncing up so high with hope only to come crashing so far down with despair is really taking its toll on me. It's hard to eat, drink water, or keep from snapping at my little girls. I would not wish this on anyone, especially with so many markers pointing to doom.

I'm so sad to see that I have so much company, but I'm grateful for your posts and displays of strength. I really need that right now, thank you all.

[adl]

Rainluv - I am not in this group this time around...but have friends that are ... I saw your post and had to answer

.I am sorry to hear your results and worry, all I can say is that perhaps Friday, depending what time you had your CVS may have been too late for a call, in the 48hr space ..

also in my case it was my OB that called with the results when there wasnt a happy outcome not the testing place... I wish you the very best

[MrsBobby]

Hi rainluv, sorry to hear about your results. Obviously your NT results are not looking amazing but just keep in mind that it's only a risk factor. You have at least a 50% chance that everything is going to be perfectly fine. Good that the CVS was already done. Bummer you didn't get your results on Friday but I wouldn't read too much into that. When I had my amnio I specifically requested to be told either way over the phone. BUt they might just be running a bit behind at the laboratory. Sometimes samples don't get send in in time and that might cost a day... I found the waiting for the actual test to be the hardest part, I had to wait three weeks until the amnio due to posterior placenta... Once it was done I was kind of more calm as there was nothing I could have changed.

Have you spoken to your DH of what you are going to do in the case you get a definite on one of the trisomies? i found it quite difficult to discuss this but also very important and made us stick very close together in tis difficult time.

I do hope that your results come back all clear though! Good luck hun!

[rainluv]

Have you spoken to your DH of what you are going to do in the case you get a definite on one of the trisomies? i found it quite difficult to discuss this but also very important and made us stick very close together in tis difficult time.

I do hope that your results come back all clear though! Good luck hun!
[/quote]

First, hank you so much for taking the time to respond to my post. It's very hard to find someone to discuss this with.

Yes, we have discussed it...well, he has discussed it. He has made the argument as to why he doesn't want to continue the pregnancy. I told him I wasn't ready to discuss it but I am really starting to agree with him. I'm not sure what I will actually do when the time comes, however. I am scared to death of the actual procedures, mostly because I have no idea what they might be. I am not from Australia and the medical system is so different from home. At first, I said I didn't want to put myself through thinking about it because it may not be necessary, but I actually find facing reality a little more comforting. I am thinking the worst because no one at the hospital gave me any reason to be hopeful. I really think there was more to the scan that they didn't tell me about.

Anyway, sorry to ramble on so much, but like I said I'm not from here and I really don't have anyone close to talk to about this so your response means so much.

This post has been edited by rainluv: 03/11/2012, 10:07 PM

[nikkibaby1]

Zackcat, I have nothing else to say!

Nikki, do the docotrs mean they are softmarkers for Trisomy 18? Are they just doing a scan or have they offered an amniocentesis?

They didnt say specifically soft markers for trisomy 18 but i know they are. At the moment they are sending me for a level 2 scan to re check all the organs in more detail. If that comes back high risk they will refer me to the fetal medicine team. Im freaking out. So stressed not wanting to think about anything baby related i feel like im not getting a take home a t home baby

[Cyaira]

Hi all,

I thought I would post and update to give a bit of hope for those who are not undergoing invasive testing.

We had our 19 week scan and baby is STILL looking perfect, no markers, nothing. And he's a little boy.

We still have another scan at 24 weeks and we're not technically in the clear (baby can show up perfect and still have T21) but it's definitely a really good sign. Fingers crossed we continue to get good results and have a healthy happy baby at the end of it all.

We are getting frequent scans due to our low Papp-A (0.29MoM) and risk of IUGR etc but baby was measuring 6 days ahead of his due date and the measurements at our scan at 16 weeks, so I am feeling positive.