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Genetic Screen Results are in...**UPDATE**


Forum: Pregnancy and Motherhood After Loss

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  #1  
August 13th, 2008, 07:15 PM
Danielley08's Avatar Mega Super Mommy
Join Date: Feb 2008
Posts: 3,594
Well after the gym this afternoon I got in my truck to find a voice mail on my cell...it was my doc...so I tried her back at her office (yes she is an awesome doc and I have her direct office line AND her pager number!!) and luckily she was still there...

The genetics report revealed that our baby girl (yes she was a girl) had Mosaic Turner's Syndrome (45X/46XX)....this is where when the sperm and egg meet something goes wrong (the cause is unknown) and only some of the cells have a full 46 chromosomes and some only have 45...while most 45X pregnancies end in miscarriage the chances of a fullterm birth with 45X/46XX is higher...but this is only typical if the percentage is 90 to 10 (46XX to 45X)...I'm not sure what our babies count was, but whatever it was, it was something abnormal enought that my body naturally aborted (I hate that word but that is the *politically correct* wording)...

So far all of the research I have found doesn't have a cause...its just an abnormal splitting of the cells...any stats I've found show the chance of recurrence is "very small" as they put it...and they said it is not an inherited problem...(the "they" I speak of is all the different sites I've googled )

My doc put in a referral to speak with the genetic counselor so I imagine DH and I will be giving some blood samples (as will both of our boys probably)...hopefully the genetics department contacts me tomorrow to make the appt....the sooner the better...

**UPDATE**

I received the *official* report this morning which had the cell count for our baby girl...it says:

Twenty cells were examined and counted. Thirteen cells contained 45 chromosomes with the sex chromosome pattern consisting of a single X. The remaining seven cells were normal with two X-chromosomes. While the normal cells could potentially represent cells of maternal origin, they most likely represent true mosaicism in the fetus. The majority of 45X fetuses are miscarried and the chromosomal pattern likely is related to the loss of this pregnancy. The implications of this finding for future pregnancies is not clear. Genetic counseling is recommended.

Interpretation: 45X/46XX – Chromosomal pattern consistent with fetal Turner’s Syndrome and Mosaicism for a normal 46XX pattern.


Like I said above almost all 45X/46XX pregnancies that make it full term have a 90(46XX)/10(45X) ratio. So according to the report our baby had 35(46XX)/65(45X). The majority of her cells were the bad ones and if she would have made it full term she would have had a lot of problems. I wouldn’t want a baby that would have to suffer, so I’m glad God didn’t make her.


Thank you all sooo much for all your support through this...you ladies have been wonderful
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  #2  
August 13th, 2008, 08:17 PM
*Bobbie*'s Avatar Platinum Supermommy
Join Date: Jan 2007
Location: Rochester, NY
Posts: 15,851
AWW sweetie.... I am so glad you got some answers. I think not knowing is worse than knowing.

I am sorry this happened. I sooo wish this one would have been the keeper. I wanted us to have babies at the same time I hope my ticker doesn't ever cause you pain. I worry about that all the time.

I hope when they do the genetic testing it just proves to be a fluke thing and you are TTC again when you guys are ready.

LOTS of cause you really are a great person and you mean a lot to me.

Love ya girl
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Bobbie mom to : Jeremy (22) Amanda (19) Matthew ( 4) and Daniel (3).... RYAN DAVID 1/4/14 8lbs 10oz 20 3/4 inches!!! My miracle happened!
step-mom to: Stephany (23) and Krista (20)
step-grandma to: Wesley (3), Rosemarie (7 months)



On 1/31/12 at exactly 16 weeks pregnant Noah came too soon. He was our 7th loss
If you would like to see pictures of my sweet (but tiny) boy they can be viewed at www.caringbridge.org/visit/noahdarrohn they aren't the easiest pictures to look at but I am willing to share them with anyone who would like to see them <3
On August 2, 2012 we lost Sarah at 17 weeks. She was our 8th loss Her pictures can be viewed at http://www.caringbridge.org/visit/sarahdarrohn
There is no known explanation for my losses.

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  #3  
August 13th, 2008, 08:28 PM
amandakay29's Avatar Mega Super Mommy
Join Date: Dec 2007
Location: Missouri
Posts: 1,868
I'm so glad you have some answers. I know I struggled with not knowing why I lost my little one. I was almost obsessed with it. But one day I was working (I'm an O.R. nurse) and we were doing surgery on a little 2 week old baby that had sooooo many problems...(which I won't go into but they weren't good) I remember finally feeling peace with my loss. That my little one was not developing correctly and my body caught it and kept him/her from being in any pain or suffering at all. I hope that doesn't offend you. Good luck with the genetics testing I'm sure it was just a one time thing and you guys will be ttc in no time.
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  #4  
August 14th, 2008, 05:13 AM
*Pamela*
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I'm glad you got to find out what happened and that she was a little girl. I, too, would rather know.

I hope all turns out with your next set of testing. I agree at above that you are such a strong lady, signs of a great mom! I can't wait to hear when you're ready to start trying again and I hope that you will stay around, you're such an asset to these boards.

If it's ever hard to come over here, I'll come looking for you in ttcal.

God bless hun
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  #5  
August 14th, 2008, 05:52 AM
woohoo502's Avatar Platinum Supermommy
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Location: Illinois
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I'm glad you got answers. It is definitely better to know. I hope that you get great news from the genetic counselor.
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  #6  
August 14th, 2008, 06:41 AM
mom 2 haley & tyler's Avatar formerly mommy2haley17
Join Date: Aug 2007
Location: TX
Posts: 8,212
Aw Danielle, I'm glad you got an answer. I hope you can get in soon to see the genetics counselor. I will continue to pray for you! You are such a special person to me. I think you are an amazing woman. Please KUP on everything. Love ya girlie!
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  #7  
August 14th, 2008, 07:57 AM
Danielley08's Avatar Mega Super Mommy
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Bumped for update...
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  #8  
August 14th, 2008, 08:27 AM
Wee3monkeys's Avatar Mega Super Mommy
Join Date: Mar 2008
Location: Nebraska
Posts: 3,352
I'm so glad you got an answer from the testing! That always feels like such a relief, just to have some information at all. Good luck with the genetic testing, I hope that they find that it was just one of those things, and everything else is OK. Please be sure to KUP!! You'll be in my thoughts, and I'll be praying that when you guys decide the time is right again that you'll get your sticky bean right away!!!

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  #9  
August 14th, 2008, 08:52 AM
Madison.Hailey.Zack's Avatar Mom of 2 Girls and a Boy!
Join Date: Jun 2006
Location: Michigan
Posts: 11,066
Danielle I just wanted to say how sorry I am for your loss and am happy that you got some answers thought. I wrote you on myspace but again I lost Samantha to the same thing and I am here to help in any way I can.
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  #10  
August 14th, 2008, 09:07 AM
Platinum Supermommy
Join Date: Nov 2007
Location: California
Posts: 7,567
awww, does it bring you peace knowing she was a girl and what happened?? You are such an amazingly strong woman, I am so glad you have answers, and I hope the genetic councelor can help answer more!!!!

Thank you so much for keeping us updated!!!!!

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  #11  
August 14th, 2008, 10:04 AM
Mega Super Mommy
Join Date: Oct 2006
Posts: 2,632
I am glad you were able to get some answers. I know how bittersweet answers can be though. I am just sorry it had to happen at all. From the research I have done I also found that is less likely to happen again, but maybe the genetic testing will be able to give you more reassurance of that. I hope that when your ready we will see you back here more often.
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  #12  
August 14th, 2008, 10:40 AM
*becky*'s Avatar Mommy to Bailey & Camryn
Join Date: Dec 2007
Location: Kansas City Metro
Posts: 6,294
I'm so glad you finally got the "why" behind the loss of your little girl. I 100% believe that God has a better mission for her and hand selected her with love. She was with you for a short time, but long enough to experience a mother's love and take that up to heaven with her.

I continue to pray that when you TTC again, you will have your sticky bean. (((Hugs)))
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  #13  
August 14th, 2008, 11:03 AM
jademyst13's Avatar Platinum Supermommy
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Location: Virginia
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I'm glad that you were at least able to get some answers
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  #14  
August 14th, 2008, 12:45 PM
angelmomjen's Avatar Mega Super Mommy
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HUGS!!
Im glad that you have some anwsers honey.
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  #15  
August 14th, 2008, 03:11 PM
victorialv's Avatar Mega Super Mommy
Join Date: Aug 2007
Posts: 2,926
Aw hun, big HUGS! Having answers seems to bring some comfort somehow, at least it did for me. Plus, you were able to know that it was a girl, which I think is very sweet.

I hope that it was just a one off situation and the next time will go perfectly! But, please KUP on the genetic testing appt.
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