Update: Call from Genetics and the results are in..

So I got a call back finally from the Genetics department saying there is no deletion to the SRY. I was also told that I was negative for the Smith Lemli Disorder. All of these are good things but i still don't have answers. I asked what was next and they are saying they will do some more testing on other disorders. I am waiting for a call back so they can give me names and more detail. Do any of you know anything else about what can be going on. As far as they know everything still points to baby b being a boy but ultra sound looks otherwise. I go June 5th for 3d-4d to see if they can get a better look.. I wish i had answers... :unsure:

 

Glad you got some good news, but sorry all your questions have not been answered. I am sure that is very frustrating. :hug99:

 

QUOTE(mdleyva @ May 28 2008, 10:33 AM) [snapback]797288[/snapback]
So I got a call back finally from the Genetics department saying there is no deletion to the SRY. I was also told that I was negative for the Smith Lemli Disorder. All of these are good things but i still don't have answers. I asked what was next and they are saying they will do some more testing on other disorders. I am waiting for a call back so they can give me names and more detail. Do any of you know anything else about what can be going on. As far as they know everything still points to baby b being a boy but ultra sound looks otherwise. I go June 5th for 3d-4d to see if they can get a better look.. I wish i had answers... :unsure:



Ditto on the glad about the good news for you, I'm sure it is very frustrating to not have the answers..! I *do* have a very strong hunch that both of your bbs will be fine and perfectly normal

 

Another one here who is happy you got good news but are still left with many unanswered questions. I wish I had the answers for you and could make you not worry. :hug99:

 

:hug99: How frustrating not knowing what is going on!

 

:hug99: I have a feeling you need as many hugs as you can get! I hope you find some answers soon!

 

A big hug to you and I hope they get back to you vey quickly. I'm sure all is fine.

 

I don't know - I do have a couple of friends that had babies that "looked" like girls in the ultrasounds but are 110% boy - and they both had numerous ultrasounds- maybe that is just it?? You are in my thoughts and prayers.

 

QUOTE(Heathermomof5 @ May 28 2008, 01:21 PM) [snapback]797813[/snapback]
I don't know - I do have a couple of friends that had babies that "looked" like girls in the ultrasounds but are 110% boy - and they both had numerous ultrasounds- maybe that is just it?? You are in my thoughts and prayers.



I am hoping this is my case and that next week on the 3d-4d u/s it will give us a more def answer. My baby shower is 2 days after the u/s and i would like to know because i know people are going to be asking questions ect... Thank you for your response it helps hearing stories like that!

 

You are welcome!!! the last friend that this happened to was actually dh's cousin's wife!! she had an ultrasound the day Josh was BORN - and the dr told her the baby was a girl!!! She was high risk and had several ultrasounds prior to the day birth day - that child's nursery was the GIRLIEST nursery I have EVER seen!! and even I bought girl clothes for the shower! everything was embroidered with "Kayla" and when that baby was born - he is NO girl!!! His grandmother who has 9 grandsons and was SO excited to think she was finally having a granddaughter said "NO! that's just the umbilical cord!" when the dr said "guess what?? IT'S A BOY!!" Josh is all boy and a healthy 8 yr old now (and his grandmother still does not have any granddaughters!)

 

I don't have any BTDT advice, but my thoughts are with you and hope that everything turns out really well! (((HUGS)))

 

So i just got another call from the genetic counselor who has been working with me from day one. They are still really confused by all that is happening and now she is saying that just because of these results doesn't mean the baby doesn't have these disorder. She threw some other names out there for me to reesearch, Disorder of sex developement and Complete Gonadal Dysgenesis. The second one still seems like the testicular femenization, but i don't know. I asked her again if she had ever seen anything like this and she said NO. SHe said my dr. is confident at what he seen in the u/s. I would really love for him to eat his words. I mean really what IF it just wasn't a good shot and the baby was just so small. I mean i was 23w and some days and the baby only weighed 13 oz. Which brings me to the next thing(Have any of you seen babies this small at this gestation age?) . She said they are still really concerned as to the difference is size between the babies. I had almost forgot about that worrying about all this other stuff. She did say the dr WOULD do the 3d-4d next wed at 2:30 so i will still have to wait and see. I guess i just need prayer that this little one will grow too. I have been praying so hard. I would love for the worrying to end once and for all and at the next appointment be told oh look there are the goods! and it has grown. That would be some really great news. one can only hope! :mellow:

 

QUOTE(mdleyva @ May 28 2008, 05:44 PM) [snapback]798146[/snapback]
So i just got another call from the genetic counselor who has been working with me from day one. They are still really confused by all that is happening and now she is saying that just because of these results doesn't mean the baby doesn't have these disorder. She threw some other names out there for me to reesearch, Disorder of sex developement and Complete Gonadal Dysgenesis. The second one still seems like the testicular femenization, but i don't know. I asked her again if she had ever seen anything like this and she said NO. SHe said my dr. is confident at what he seen in the u/s. I would really love for him to eat his words. I mean really what IF it just wasn't a good shot and the baby was just so small. I mean i was 23w and some days and the baby only weighed 13 oz. Which brings me to the next thing(Have any of you seen babies this small at this gestation age?) . She said they are still really concerned as to the difference is size between the babies. I had almost forgot about that worrying about all this other stuff. She did say the dr WOULD do the 3d-4d next wed at 2:30 so i will still have to wait and see. I guess i just need prayer that this little one will grow too. I have been praying so hard. I would love for the worrying to end once and for all and at the next appointment be told oh look there are the goods! and it has grown. That would be some really great news. one can only hope! :mellow:



I'm so sorry that you have this "unsure" cloud hanging over your head. I'm a nurse and I work with children with Developmental Delays and various syndromes. We just found out that we are expecting twins and I have so many questions I feel like this is my first pregnancy! Maybe I missed this earlier, but how big of a difference is there in size, and are your babies in the same sack? I'm no expert, but I would like to research with you, maybe help you look for the right questions to ask. In no way do I assume that you aren't asking the right questions, but I would love to help you find some answers. Wishing the best!!

 

I think I posted to you before but not sure. I had the exact same thing happen. Mine just ended up being g/b twins. Not the 2 boys my cvs test told me it was. When you say that the baby b is a girl. Did you actually see girl parts or just not see boy parts? Obviously a huge difference. When my dr saw that the u/s results said boy/girl after the cvs said b/b, he warned me of the problems it could entail and we freaked out about it too. But we saw obvious girl parts, so there was no question to the outer anatomy. We thought if after she was born things didn't seem right we would know it then. I would demand another detailed u/s or even go to one of those 3d u/s places and see if they can give you more gender shots. Might be worth the piece of mind you could get. Were any of these 3D u/s???

 

Hugs to you and I hope you get some answers soon. I can't imagine how frustrating this must be :hug99:

 

QUOTE(mdleyva @ May 28 2008, 06:44 PM) [snapback]798146[/snapback]
I have been praying so hard. I would love for the worrying to end once and for all and at the next appointment be told oh look there are the goods! and it has grown. That would be some really great news. one can only hope! :mellow:


Well, we are all here praying and hoping with you Momma. :hug99: :hug99:

 

QUOTE(2plus2Tasha @ May 28 2008, 05:40 PM) [snapback]798206[/snapback]
I'm so sorry that you have this "unsure" cloud hanging over your head. I'm a nurse and I work with children with Developmental Delays and various syndromes. We just found out that we are expecting twins and I have so many questions I feel like this is my first pregnancy! Maybe I missed this earlier, but how big of a difference is there in size, and are your babies in the same sack? I'm no expert, but I would like to research with you, maybe help you look for the right questions to ask. In no way do I assume that you aren't asking the right questions, but I would love to help you find some answers. Wishing the best!!



When i went to the last u/s I beleive 23w3d Baby A measured 1.6 pounds and Baby B measured 13oz. B had only grown 2 weeks since the last u/s (4 weeks). They are NOT in the same sack. B has been tested for Smith Lemli and the SRY deletion which both came back okay. Please let me know what other information you need. I would love additional help in researching this.

Another thing that has bugged me is at one point we had a 3rd sack that they said had "nothing " in it.I was told the same thing with baby B and here we are. I don't know if that info helps at all. I ask the peri if he is sure there aren't 2 boys and a girl and he says no.

Thanks for wanting to help!

 

QUOTE(4jsinPA @ May 28 2008, 08:00 PM) [snapback]798475[/snapback]
I think I posted to you before but not sure. I had the exact same thing happen. Mine just ended up being g/b twins. Not the 2 boys my cvs test told me it was. When you say that the baby b is a girl. Did you actually see girl parts or just not see boy parts? Obviously a huge difference. When my dr saw that the u/s results said boy/girl after the cvs said b/b, he warned me of the problems it could entail and we freaked out about it too. But we saw obvious girl parts, so there was no question to the outer anatomy. We thought if after she was born things didn't seem right we would know it then. I would demand another detailed u/s or even go to one of those 3d u/s places and see if they can give you more gender shots. Might be worth the piece of mind you could get. Were any of these 3D u/s???



Hi sent you a pm as well

But is CVS an amnio? I think B looks like a girl but I am no expert. I can tell you that B doesn't have the for sure parts like A. What did they say happened why your CVS said one thing and u/s another. I am really curious now...

 

QUOTE(mdleyva @ May 29 2008, 10:36 AM) [snapback]799344[/snapback]
Hi sent you a pm as well

But is CVS an amnio? I think B looks like a girl but I am no expert. I can tell you that B doesn't have the for sure parts like A. What did they say happened why your CVS said one thing and u/s another. I am really curious now...



Sorry can't help with the other questions, but a CVS is not the same, it is done earlier and as accurate as an amnio.