NT/Panorama results

Melissa2216

I went for my NT scan today and the tech said, "everything looks ok so far, but they go off the blood test." I didn't really know what to make of that. She didn't even say anything until I asked her how the measurements were. NT was 1.7mm.

Then I mentioned I was still waiting to hear back about the Panorama. They checked on the computer and it turns out the results came in on Thursday morning...

The first thing I saw over her shoulder was "high risk" in bold letters at the top. All trisomies were low risk, but DiGeorge syndrome was 1 in 19. I have an appointment for genetic counseling and possible CVS on tues 5/20. I had to have an amnio with DS, which was terrifying. Not looking forward to this...

She printed out a copy of the results for me. Then I saw "sex of fetus: male." Very anti-climactic way of finding out I'm team blue...

LongIslandMama1114

So sorry you're going through this and for the way you found out but congratulations on team blue

brooklyngirl18

i'm sorry you are going through this FX everything is ok. yay for team blue!!

xiaopeapod

Aww, I'm sorry to hear you have such a crappy experience. Definitely sucks having to do amnio and to find out the sex of the baby in such a casual way. But yay for team blue!

lizzielu82

Sorry you had to go through that and big congrats on the baby boy! 

I had a rough experience with my Genetic Counselor, too. They tend to side on the end of the extreme. I found a lot of reassurances in reviewing my results with my OB. If you can schedule a call to chat, I think that would help a lot. My OB certainly made me feel a lot better! Good luck!

Autumnsnow

i'm sorry you are going through this good luck with the genetic counselor... yay for team blue!! 

mb314

Keep in mind that 1/19 is about 5%, which helps the number seem less scary.  And the NT of 1.7 cm is great.

Congrats on the boy, and good luck with seeing the counselor!  keep us posted. 

lisaren

I understand your feelings right now. Congrats on team boys! Stay AWAY from google. Put a call into your obgyn.

Love xoxo

Melissa2216

@lizzielu82‌ - my OB wasn't in the office at the time. They texted her and she responded that she doesn't know much about this syndrome and said I should just go straight to the genetic counselor.

DoubleUp8

I hope everything turns out ok! Congrats on Team Blue!

Kristy774

Genetic counselors DO NOT have the best bedside manner. Seriously. I also had a crappy experience with mine. I guess they are supposed to be matter of fact and not emotionally.

Thoughts and prayers for you!

lizzielu82

Melissa2216 said:

@lizzielu82‌ - my OB wasn't in the office at the time. They texted her and she responded that she doesn't know much about this syndrome and said I should just go straight to the genetic counselor.

Well, that's annoying! They should read up so they can be more informed. Sorry about that Just try not to let your Genetic Counselor get to you too much since they're known to be more intense and have a poor bedside manner. Thinking of you!

mockingjay1

mb314 said:

Keep in mind that 1/19 is about 5%, which helps the number seem less scary.  And the NT of 1.7 cm is great.

Congrats on the boy, and good luck with seeing the counselor!  keep us posted. 

This. I can't imagine what you're going through, but a 1 in 19 change means 18 out of 19 people will not have a baby with this. Keeping my FX for you that all is well with your sweet boy and that everything goes well with the genetic counselor. Congratulations on team blue!

Ineedmorecoffee

I am so sorry that you found out in such a non-exciting way. Can't believe they didn't let you know first, but congrats!  Hoping all is well with your sweet baby boy.

dr_pr

I'm so sorry you're going through this!  Lots of T&Ps for a good outcome, and congratulations on Team Blue (even if you didn't find out the way you'd hoped to).

AnnieRoo13

I'm sorry you have to deal with this. Hopefully the genetic counsellor will be able to provide some answers. Stay positive also congrats on team blue!

FishyMom

Sending t&p's your way. Congrats on your little boy tho!

jess123456

Welcome to team blue! I feel like we are dominating this board.

That's a great and normal NT value. I know that sometimes they have false positives for the genetic tests (I had Panorama too just for this pregnancy). I am thinking positive thoughts for you. I have had a CVS done before in another pregnancy and I'm a complete baby and it wasn't bad physically (just felt like pressure/some cramping) it is just of course a lot to take in emotionally given the situation. My results came back within a week or so (first were the results for trisomies 13, 18 and 21 and then later came the results for all of the others which I think in total took two weeks).

Did your doctor or ultrasound tech mention seeing any markers on the ultrasound that might be an indication other than the Panorama? The ultrasound markers were the main reason why I got a CVS before in another pregnancy.

Keeping you and your sweet baby boy in my thoughts and prayers.

Melissa2216

jess123456 said:

Did your doctor or ultrasound tech mention seeing any markers on the ultrasound that might be an indication other than the Panorama? The ultrasound markers were the main reason why I got a CVS before in another pregnancy.

The ultrasound tech didn't seem to see anything out of the ordinary.

jess123456

Melissa2216 said:

jess123456 said:

Did your doctor or ultrasound tech mention seeing any markers on the ultrasound that might be an indication other than the Panorama? The ultrasound markers were the main reason why I got a CVS before in another pregnancy.

The ultrasound tech didn't seem to see anything out of the ordinary.


I am no doctor but I think that's a good sign that she didn't see any markers. I am not familiar with DiGeorge syndrome but from what I can see online it looks like there might be some physical markers apparent on the ultrasound. I am hopeful for you that it will be alright but I know how hard it is to get unsettling news. Thinking of you.

AbbeyH

Congrats in your baby boy! FX for you!!

crystaldh

Odds are still in your favor. Stay positive!!

iheartscraps

Praying for you, don't get stressed its bad for the baby and sending positive vibes your way.  I lost a T13 last year, I don't want anyone to go through that.   

Stay relaxed until you speak to the counselor, you never know, everything can turn out great!!

Take care!!

kpaige82

 

I also got a 1:19 chance of Digeorge Syndrome last week from my maternit21 test.  I had an amnio done on Thursday and a fetal echocardiogram on Friday (which showed that his heart looks healthy).  75% of babies with Digeorge have heart defects.  I know that a good echo in no means that we are in the clear but Ill take any good news I can get right now.

The last 6 days have been the longest and most terrifying of my life.  I just keep praying that he is ok.

Are you definately going to have an amnio of CVS on 5/20?

Im thinking of you, I know what you are going through.

Melissa2216

kpaige82 said:

 

I also got a 1:19 chance of Digeorge Syndrome last week from my maternit21 test.  I had an amnio done on Thursday and a fetal echocardiogram on Friday (which showed that his heart looks healthy).  75% of babies with Digeorge have heart defects.  I know that a good echo in no means that we are in the clear but Ill take any good news I can get right now.

The last 6 days have been the longest and most terrifying of my life.  I just keep praying that he is ok.

Are you definately going to have an amnio of CVS on 5/20?

Im thinking of you, I know what you are going through.

That's strange that you also got 1/19...At this point I'm leaning toward doing the CVS. My only hesitation is the fact that we are thinking about telling DH's parents, aunt/uncle, and DS on Friday at DH's graduation. On the off chance that I get a CVS and it leads to a miscarriage...I don't want to tell DS that he is going to be a big brother and then have to take it back.  So we may end up waiting to tell people, but it's getting hard for me to hide it. We haven't told anyone yet...I have no idea what the right thing to do is.

kpaige82

 

Its such a hard decision. My husband and I ultimately decided that we needed to know - I couldnt go through the rest of my pregnancy with this looming.  After reading up on Digeorge Syndrome the last week im terrified - there is such a wide range of symptoms and there is no way to know how mild/severe a case could be if you get a positive amnio/cvs result. Continuing to pray he is healthy and this was just all an awful scare.

I spoke with my doctor today and my results werent in but she is hoping they may be tomorrow.

Please keep me posted how things go for you.

Melissa2216

kpaige82 said:

 

Its such a hard decision. My husband and I ultimately decided that we needed to know - I couldnt go through the rest of my pregnancy with this looming.  After reading up on Digeorge Syndrome the last week im terrified - there is such a wide range of symptoms and there is no way to know how mild/severe a case could be if you get a positive amnio/cvs result. Continuing to pray he is healthy and this was just all an awful scare.

I spoke with my doctor today and my results werent in but she is hoping they may be tomorrow.

Please keep me posted how things go for you.

Let me know when you hear back!

kpaige82

 

I just got my news this morning and baby boy is healthy!  Most relieving phone call ever. I am thinking of you as you go through this waiting period and I hope you get the same results. hugs. Keep us posted.

absolutelymaybe

Congrats on the good news!

Melissa2216

kpaige82 said:

 

I just got my news this morning and baby boy is healthy!  Most relieving phone call ever. I am thinking of you as you go through this waiting period and I hope you get the same results. hugs. Keep us posted.

Great news! Congrats!

brandyidele

melissa2216
Did you get your results back from your CVS?
I'm in the exact same boat, baby tested positive for DiGeorge from the panorama test. The doctor said I have a 1/19 chance. I'm having my CVS done tomorrow.

Losing my mind about the unknown! Hope your baby is healthy!

Melissa2216

@brandyidele - Everything came back perfect! The genetic counselor we spoke with before the CVS actually said that the tests for microdeletions like DiGeorge's are fairly new and she has never heard of a high risk Panorama result for DiGeorge's actually resulting in a baby that HAS it. She doesn't think enough has been done yet to prove that the test is valid and she would prefer that her patients not even get tested for microdeletions.

Good luck tomorrow!

trackstar84

Hi ladies,

Just got our Panorama results back and baby has 1/19 chance of Digeorge. I'm opting out of cvs/amnio because of risk of miscarriage. Just wondering if anyone's baby actually has the syndrome.. Like Panorama suggested?? Help please! So stressed!