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Genetic Testing Results are in.


Forum: Pregnancy and Motherhood After Loss

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  • 1 Post By humnck
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  • 1 Post By melissalaw
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  #1  
October 9th, 2013, 09:37 AM
lelila's Avatar Mega Super Mommy
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Our genetic testing for Verify21 are in. All tests came back negative for both sets of Downs. Our insurance only pays for Down Syndrome testing since the NT scan at 13 weeks didn't show evidence of spina bifida, anencephaly or hydrocephalus.

These conditions have not been ruled out, and we still worry about them, but our OB has told us there is a much lower chance of them based on the NT results. We will not know the chances of Turners for many more weeks.

I'm relieved, but honestly, I am still nervous at the 8 million other things that could go wrong. Since my mother had 4 out of her 7 pregnancies end up with chromosomal issues, I know my history is against me. I've read way too much and know more than I really should and there is more truth in "Ignorance is Bliss" than we think.

Next scan - Next week.

I hope you all are having a great week!
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  #2  
October 9th, 2013, 09:55 AM
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Glad to hear that Downs has been ruled out. I am curious, the 4 pregnancies of your mom's that had chromosomal issues, did they end in loss, how did they know they were chromosomal? And are they genetic chromosomal issues? Some chromosomal issues are not genetic, they are just "bad luck" mutations/missing chromosomes, which is what Turners is. Fingers crossed that that gets ruled out!
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  #3  
October 9th, 2013, 09:55 AM
Boos Moo's Avatar Mega Super Mommy
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At least that's one more hurdle down Hope you get good results next week also. I'm hoping to hear back in the next couple of days on ours. It's hard not to worry, but I hope you're able to enjoy your week and have a great one.
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  #4  
October 9th, 2013, 10:40 AM
melissalaw's Avatar Platinum Supermommy
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Glad everything came back negative for down's. I hope everything else comes back good.
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  #5  
October 9th, 2013, 11:43 AM
lelila's Avatar Mega Super Mommy
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Quote:
Originally Posted by humnck View Post
Glad to hear that Downs has been ruled out. I am curious, the 4 pregnancies of your mom's that had chromosomal issues, did they end in loss, how did they know they were chromosomal? And are they genetic chromosomal issues? Some chromosomal issues are not genetic, they are just "bad luck" mutations/missing chromosomes, which is what Turners is. Fingers crossed that that gets ruled out!
You are exactly correct on that. My sister was born with Turners, which is bad luck. Disjunction on 46. There are two downs, One is disjunction which is what my brother was born with and one is Translocation. One is bad luck, the other hereditary. My mother's first child was anencephalic. Again, disjunction on 3 I think, that child did not survive. I did have one geneticist years ago tell me that there is a type that is hereditary but I've never had another geneticist repeat that, as many times as I've asked. I have another brother born perfectly healthy, but develop multiple cognitive, emotional and psychological disorders as he matured. Science and medicine are trying to prove that many of these conditions are genetic. Research has yet to prove any of it. He's in his late 40's now and has locked himself away, where doctors can't poke him or test him, so we'll probably never know.

My grandmother blames it all on the fact that my great-grandparents were first cousins. My geneticist thinks that may not be all that off the mark. They had 13 children, 10 of whom died at or shortly after birth. Of the three that survived, a MULTITUDE of genetic and physical issues in their decedents, including my siblings.

It looks like I'm relying on DH's good clean genes.
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Leia 41 yrs young

Wife to Big Bull 40
Mommy to Big Brother our first Miracle Feb 24 2006
Mommy to Little Brother, our Rainbow, March 24, 2014

Never Forgetting our Angels 2012, 2013
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  #6  
October 9th, 2013, 12:33 PM
Ame C's Avatar Every breath is a gift.
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We all want the best for our children. I hope all the testing comes back with great results.
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  #7  
October 9th, 2013, 03:28 PM
Schofield06's Avatar Mega Super Mommy
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Glad that Down's was ruled out! I hope the rest comes back good as well.
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  #8  
October 14th, 2013, 12:50 PM
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Your mom may very well be right. I had a baby that had Turner's which is why I called it quote unquote bad luck...that is how the one doctor put it...nice right? My baby didn't make it past 12 weeks gestation.
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  #9  
October 14th, 2013, 03:15 PM
lelila's Avatar Mega Super Mommy
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Quote:
Originally Posted by humnck View Post
Your mom may very well be right. I had a baby that had Turner's which is why I called it quote unquote bad luck...that is how the one doctor put it...nice right? My baby didn't make it past 12 weeks gestation.
I'm so sorry! How did they know about the Turners that early? I didn't think pathology could tell that early. Were there any other issues? I didn't realize it could result in M/C.

My sister wasn't diagnosed until she was 17 years old.

Yeh, bad luck. I wouldn't want to hear those words under those circumstances either. I'm sorry it was put to you that way.
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Leia 41 yrs young

Wife to Big Bull 40
Mommy to Big Brother our first Miracle Feb 24 2006
Mommy to Little Brother, our Rainbow, March 24, 2014

Never Forgetting our Angels 2012, 2013

Last edited by lelila; October 14th, 2013 at 03:18 PM.
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