Genetic Screen Results are in...UPDATE

Danielley08 · #1 August 13th, 2008, 06:12 PM

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...

Thank you all sooo much for all your support through this...you ladies have been wonderful

**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.

babyd28734 · #2 August 13th, 2008, 07:55 PM

I am so gald that you guys got to find out what caused the loss of your baby girl.
I know that it can give you a chance to have some closure.
My doc was going to do genetic testing on our baby but the er had put it in some solution that made it where she couldnt do it any more(stupid emergency room)
anyways I am happy for you guys!
Hugs

NeeshBoogie · #3 August 13th, 2008, 08:12 PM

I'm glad you got a bit of closure and some information on what happened with your baby girl.

Crossing my fingers that you get in with the genetics dept. soon for more tests!

Del4 · #4 August 13th, 2008, 08:39 PM

Wow. Well I am glad you now know what happened. I hope you get an appt. asap!

..Jessica.. · #5 August 13th, 2008, 09:22 PM

I'm so glad you were able to find out the cause of your loss.

We're here for you Danielle!

mom 2 haley & tyler · #6 August 14th, 2008, 05:38 AM

I'm glad you at least got some answers. I hope you can get into the genetics counselor soon. KUP

.x~KAT~x. · #7 August 14th, 2008, 05:40 AM

Awe, im sorry hun

It must help to have some answers though?

madmum_sarah · #8 August 14th, 2008, 06:14 AM

im so glad you got some answers sweety.
i guess its good news knowing that there is a low chance of it happening again, gives you some hope that next time will be a sucessful pregnancy.
love you girl
xx

Danielley08 · #9 August 14th, 2008, 06:49 AM

Bumped for Update...

mom 2 haley & tyler · #10 August 14th, 2008, 07:13 AM

You, my friend, amaze me. You have such strength. I'm glad God didn't make her suffer as well. I'm just sorry you're having to suffer through this loss. I hope the genetics counselor will be able to give you more answers or whatever you need.

jenn27 · #11 August 14th, 2008, 08:34 AM

Danielle, I'm sooo glad that you got some answers and now hopefully you can have some closure. I hope that you can get in to see a genetics counselor and that you will soon have a little miracle to bring home. G/L hun and definately keep us posted.

Eleysia · #12 August 14th, 2008, 10:12 AM

Danielle, Youre so amazing hunny. Im so glad that she didnt have to be born suffering as well, and im glad you had the experience of her. I know that when things are ready, youll have a full term healthy pregnancy. Im sorry that you had to suffer another loss, but what a great thing to have some answers. It kind of helps your heart heal a little bit and offers some comfort knowing.