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Amnio Results are in


Forum: Pregnancy and Motherhood After Loss

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  #1  
March 21st, 2011, 07:42 PM
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I got my amnio results back. They are good, he is healthy, but he does have a balanced translocation like his dad.... I am a little bummed. Don't get me wrong I am THRILLED that he doesn't have an unbalanced translocation, and that he won't have any disabilities, but I don't want him and his future lady to have to suffer the same way DH and I did! I just want him to be as happy as he can be!

We also know for sure now that he is a boy! No doubts now!
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  #2  
March 21st, 2011, 07:46 PM
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Erica - What is balanced translocation? I am sorry, I have never heard of it. I hope Peter is ok!
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  #3  
March 21st, 2011, 07:46 PM
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I can understand being a little bummed about the balanced translocation. At least you will be able to warn him about it so that he & his future lady know what to expect. (What a mom, already thinking of her future DIL!) Maybe by that time they will be able to do super fancy sperm-sorting or some other fertility thing to help, who knows?

I'm glad that overall the results are good and Peter is healthy!
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  #4  
March 21st, 2011, 08:06 PM
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Glad Peter is for sure a boy and healthy at that. I don't know what a balanced translocation is but I assume it has to do with swimmers...
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  #5  
March 21st, 2011, 08:21 PM
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My husband has what is called a balanced translocation. What that means is that A piece of chromosome 1 and a piece of chromosome 20 (it can affect any chromosomes, these are just the ones DH and Peter have affected) have broken off and switched places. It doesn't hurt DH at all because he has all the right pieces, they are just disorganised....

The issue however is that when his balanced translocation sperm meet with my "normal" egg, it can cause the baby to have an unbalanced translocation. An unbalanced translocation is bad because there is 3 copies of chromosome 1 and only 1 copy of chromosome 20 (or vice versa) leaving the baby with terrible birth defects like heart and skeletal problems as well as mental disabilities. This is why we had so many miscarriages.

If Peter did have an unbalanced translocation we were told that he would likely die before, during or soon after birth. So we were really worried. I refused the amnio at 16 weeks though because I did not want to risk losing a healthy baby from a test....
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  #6  
March 21st, 2011, 09:00 PM
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Wow Erica I had no idea. I am even more happy that Peter is healthy and ok. But can understand why you would be bummed about that.
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  #7  
March 21st, 2011, 10:06 PM
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Erica, I don't want to be to invasive but you know what all happened with me so I don't think you'd mind me asking...is this something that would be passed onto every child or just boys? I am curious because how my results from the cvs came out and we thought we had no risks, dd was healthy i never had any testing done. Being that we didn't ttc for to long df and i have never been tested for any abnormalities. I still to this day am searching for an answer
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  #8  
March 21st, 2011, 10:16 PM
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Quote:
Originally Posted by Jessica121706 View Post
Erica, I don't want to be to invasive but you know what all happened with me so I don't think you'd mind me asking...is this something that would be passed onto every child or just boys? I am curious because how my results from the cvs came out and we thought we had no risks, dd was healthy i never had any testing done. Being that we didn't ttc for to long df and i have never been tested for any abnormalities. I still to this day am searching for an answer
I don't remember exactly what happened with you.... I thought that the baby had downs.... Downs Syndrome is for the most part random. Did they not inform you of what the abnormality was or the chromosomes involved?


DH's chromosome abnormality can affect either sex child. The abnormality is in chromosomes 1 and 20 (downs is 21) For the abnormality to be gender specific it would have to be in the X and Y chromosomes....
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  #9  
March 21st, 2011, 10:20 PM
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In addition to the downs there was a heart condition....to be honest most the results other then that are a total fog, it is like a bad nightmare, i woke up from the d & e and my mind blocked alot of the situation out, i actually woke up thinking i was 8 weeks there is alot of stuff i forced my self to remember but there is some stuff i wasn't ready to hear.
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  #10  
March 22nd, 2011, 06:16 AM
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Downs is more random. My husband's brother has Downs, as does my cousin, and the only reason I was considered "higher risk" was mostly because of my age. Also, most downs kids have heart issues. but Downs isn't fatal, and what Erica is saying her son COULD have had, would be.

Erica - I'm glad that he has the better of the two translocations, although I for sure don't blame you for being bummed. It must be difficult. And I agree with Shen that maybe when it's time for Peter to think about babies, they may have a "cure" or something to help him and his lady without all the trouble you and DH went through.

You're a strong lady! You should be VERY proud of yourself!!
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  #11  
March 22nd, 2011, 08:25 AM
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I'm so glad that your baby is healthy. I can understand about feeling bummend that he has the balanced side and his future children. I hope more can be learned about it so that he will be able to have children and not worry.


Jessica, I agree, T21 is random.....I feel that you really have nothing to worry about. You already have a daughter and that is a good point. It's quite rare for it to be hereditary and already have a healthy daughter. Erica's situation is much more serious and not random.
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  #12  
March 22nd, 2011, 09:55 AM
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I'm so glad that Peter is healthy! I'm sorry about the balanced translocation.

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  #13  
March 22nd, 2011, 11:34 AM
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It is great news that Peter is nice and healthy (and still a boy). It does suck that he has the translocation like your DH. I hope that by the time he gets to childbearing years, there will be an easy solution for him and his future wife.

They checked us for that, BUT since we had a healthy normal child, they said that it was not their first thought. It is still possible for a couple to have a translocation and have a healthy child (I mean, you *could* have gotten Peter first, KWIM?). It is just more likely that the couple will have issues from the start, since there is a greater chance of having a child concieved with unbalanced genes than balanced ones. Peter is a little miracle

From what I know of genetics, Downs can be completely random and often does come with heart issues. It is not really a transolcation or sex-linked issue, it is just the random recieving of three 21 chromosomes, either from parental age, genetic predisposition, or genetic mutation (random).
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  #14  
March 22nd, 2011, 04:49 PM
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I'm so glad for you that Peter will be healthy- what a relief! I'm sorry that he will have to worry about the same fertility issues in the future, but keep in mind that by the time is is of that age there may be better technology for screening before conception, etc., that may help him and his future partner.
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  #15  
March 22nd, 2011, 05:45 PM
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My main concern is that they generally make you wait until you have had 3 losses before they will even look into any issues. I am hoping that they will help him before he starts TTC since he will know already that he has a balanced translocation...
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  #16  
March 22nd, 2011, 06:33 PM
missy123's Avatar Platinum Supermommy
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Quote:
Originally Posted by stargatemommy View Post
My main concern is that they generally make you wait until you have had 3 losses before they will even look into any issues. I am hoping that they will help him before he starts TTC since he will know already that he has a balanced translocation...
I think he has an incredible mommy to be a strong advocate for him and his wife when the time comes.
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Pregnancy Loss April 2009, September 2010
CP 10/2008, 1/3/11 {missing my babies every single day}Mommy to 4 Children - 3 boys ages 22, 21 and 18 & baby Scarlett
After 2.5 years TTC with 4 losses our Family was given the gift of Miss Scarlett
.
Do not ever give up hope...


Miss Scarlett... Our miracle girl still brings happy tears to my eyes.



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