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mikeswife06
Drama Momma
Member since 9/06 9947 total posts
Name:
Anne
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Re: My SIL got some disheartening news
Thanks ladies. I do not think she has any family history of mental retardation and we don't. I didn't know if fragile x would show up during ultrascreen results since I do not believe it is the same thing as Downs. I don't know though.
Based on her age her # should be somewhere around 1 in 200. They said the measurement of the neck looked OK but once they put everything together it came back to 1 in 19. I did tell my mom to mention to her 1 in 20 is almost like a 95% chance the baby is fine!!!!!
Thanks for all the prayers. I will keep you updated. 
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Posted 6/17/08 12:12 PM  |
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Long Island Weddings
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 6/17/08 12:38 PM |
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wannabemom
look who's freshly baked!
Member since 12/07 7364 total posts
Name:
aka marriedinportjeff
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
I am so sorry! I hope the amnio results come back fine
since I'm the board science geek, I'll answer your 2 questions:
downs increases with age becuase as we age, there is an increase in chromosome mis-segregation during gametogenesis (the formation of eggs and sperm). The eggs are almost completely formed when we're fetuses, but the final segregation step occurs right before ovulation. So, before ovulation the proto-egg has 26 chromosomes (2 copies of each)... and the cell seperates them into 2 packs, and discards one so it only keeps 13... during fertilization, the other 13 comes from your DH. For all trisomy incidents, the chromosome 'packs' are not 13 and 13... the discarded one is 12 and the cell keeps 14... so the egg has ends up with 3 copies of one chromosome following fertilization instead of 2. As a result, there is an excessive representaion of the genes represented in that one chromosome. Trisomy conditions are worse when the chromosome is larger... (Trisomy 1 through roughly trisomy 14 is unviable)... trisomy 18 ( a smaller chromosome) is super bad and results in early death and many severe problems. Trisomy 21 (a tiny chromosome) is downs and obviously has a less severe prognosis.
What is fragile X?
It's a fairly severe mutation in one gene in the X chromosome. the mutation causes the body to protect itself by silencing the gene (the same as if that copy of the gene doesn't exist). this gene is responsible for regulating the levels of many proteins, so people with fragile X have unusual levels of many different proteins. Since women have 2 X chromosomes (and the odds are high that the gene on the other X chromosome is functional), fragile X syndrome is much less severe in baby girls than baby boys.....
Hope this info helps... lots of to your family
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| Posted 6/17/08 1:14 PM |
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mikeswife06
Drama Momma
Member since 9/06 9947 total posts
Name:
Anne
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
Posted by wannabemom
I am so sorry! I hope the amnio results come back fine
since I'm the board science geek, I'll answer your 2 questions:
downs increases with age becuase as we age, there is an increase in chromosome mis-segregation during gametogenesis (the formation of eggs and sperm). The eggs are almost completely formed when we're fetuses, but the final segregation step occurs right before ovulation. So, before ovulation the proto-egg has 26 chromosomes (2 copies of each)... and the cell seperates them into 2 packs, and discards one so it only keeps 13... during fertilization, the other 13 comes from your DH. For all trisomy incidents, the chromosome 'packs' are not 13 and 13... the discarded one is 12 and the cell keeps 14... so the egg has ends up with 3 copies of one chromosome following fertilization instead of 2. As a result, there is an excessive representaion of the genes represented in that one chromosome. Trisomy conditions are worse when the chromosome is larger... (Trisomy 1 through roughly trisomy 14 is unviable)... trisomy 18 ( a smaller chromosome) is super bad and results in early death and many severe problems. Trisomy 21 (a tiny chromosome) is downs and obviously has a less severe prognosis.
What is fragile X?
It's a fairly severe mutation in one gene in the X chromosome. the mutation causes the body to protect itself by silencing the gene (the same as if that copy of the gene doesn't exist). this gene is responsible for regulating the levels of many proteins, so people with fragile X have unusual levels of many different proteins. Since women have 2 X chromosomes (and the odds are high that the gene on the other X chromosome is functional), fragile X syndrome is much less severe in baby girls than baby boys.....
Hope this info helps... lots of to your family
Wow, thanks, I'm gonna have to read that a few times.
I just hope the next 2 weeks goes fast and she has no problems with the amnio. She was just so excited she even got PG on her own and now this. Thank you again for all your thoughts and prayers. They mean a lot.
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| Posted 6/17/08 3:30 PM |
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want2beamom
Love my boys soooo much!!!
Member since 8/06 10164 total posts
Name:
True love doesn't end with happily ever after...
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 6/17/08 3:32 PM |
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08BabySurprise
My Life. My Everything.
Member since 10/07 9151 total posts
Name:
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 6/17/08 5:46 PM |
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Lauren82
LIF Adult
Member since 10/06 4580 total posts
Name:
L
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
Posted by mikeswife06
Thanks ladies. I do not think she has any family history of mental retardation and we don't. I didn't know if fragile x would show up during ultrascreen results since I do not believe it is the same thing as Downs. I don't know though.
Based on her age her # should be somewhere around 1 in 200. They said the measurement of the neck looked OK but once they put everything together it came back to 1 in 19. I did tell my mom to mention to her 1 in 20 is almost like a 95% chance the baby is fine!!!!!
Thanks for all the prayers. I will keep you updated.
I don't believe Fragile X would show up in the ultrascreen...my cousin does have it, but his two sisters do not and prior to him, they did not know they were carriers of it...I'll pray that them as well!
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| Posted 6/17/08 7:53 PM |
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shazza211
My life is complete
Member since 9/07 1580 total posts
Name:
Sharon
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
I was tested for fragile x because my DH had a brother who had a number of disabilities including down sydrome but came up negative. I wish your SIL the best!
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| Posted 6/17/08 8:45 PM |
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pjay
YAY! I CAN WRITE HERE....
Member since 5/07 1551 total posts
Name:
PJAY
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
how did everything turn out w/ SIL? Hope all AOK
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| Posted 7/9/08 2:24 PM |
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mikeswife06
Drama Momma
Member since 9/06 9947 total posts
Name:
Anne
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
Posted by pjay
how did everything turn out w/ SIL? Hope all AOK
She is negative for fragile X but we are still waiting for the results from her CVS. They did not get a good sample so they let it grow an extra week. Hopefully we will know something before the weekend.
Thanks for thinking of her.
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| Posted 7/9/08 3:26 PM |
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pjay
YAY! I CAN WRITE HERE....
Member since 5/07 1551 total posts
Name:
PJAY
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
ok so far so good! all these tests can make one go nutty - - - - -
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| Posted 7/9/08 3:37 PM |
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08BabySurprise
My Life. My Everything.
Member since 10/07 9151 total posts
Name:
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 7/9/08 3:55 PM |
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nicknmb
SISTERS!
Member since 1/06 5193 total posts
Name:
MaryBeth
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
OK, this is good news!
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| Posted 7/9/08 4:50 PM |
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Katie111806
Team Pink!
Member since 12/06 5349 total posts
Name:
Katie
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
continued prayers for your SIL - glad to hear about the fragile X
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| Posted 7/9/08 4:53 PM |
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MrsEvans2004
LIF Infant
Member since 8/06 314 total posts
Name:
Rina
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 7/9/08 5:27 PM |
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wynter323
Couple more days.
Member since 7/07 1319 total posts
Name:
Jennifer
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
I am sorry to hear that.
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| Posted 7/9/08 6:15 PM |
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newwife08
LIF Adult
Member since 6/08 1001 total posts
Name:
Indira
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 7/9/08 6:22 PM |
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hunnybunnyxoxo
this is what it's all about
Member since 11/07 3321 total posts
Name:
Lisa
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
sending lots of prayers!!
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| Posted 7/9/08 7:49 PM |
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natasa
Girls Rule
Member since 2/07 2035 total posts
Name:
natasa
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Re: My SIL got some disheartening news RESPONSE AND MORE QUESTIONS ON PAGE 2
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| Posted 7/9/08 10:47 PM |
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mikeswife06
Drama Momma
Member since 9/06 9947 total posts
Name:
Anne
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Re: My SIL got some disheartening news UPDATE 7/12
update
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| Posted 7/12/08 9:39 AM |
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twinkletoes807
Mommy's Girls! ♥
Member since 11/07 10116 total posts
Name:
Gabi
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Re: My SIL got some disheartening news UPDATE 7/12
Sending you SIL and brother lots of prayers, strength and hugs during the time.
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| Posted 7/12/08 9:45 AM |
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runlikethewind
Love my babies!
Member since 12/06 2941 total posts
Name:
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Re: My SIL got some disheartening news UPDATE 7/12
So sorry to hear the news, that is sad. It is a very personal decision on where to go from here, and I'm sure nobody could tell them what is best unless they were in their shoes. 
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| Posted 7/12/08 9:47 AM |
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Porrruss
Nya nya nya
Member since 5/05 11618 total posts
Name:
Amy
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Re: My SIL got some disheartening news UPDATE 7/12
Many, MANY prayers to your SIL and family. What a heartwrenching decision.
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| Posted 7/12/08 9:51 AM |
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hbugal
Lesigh
Member since 2/07 15928 total posts
Name:
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Re: My SIL got some disheartening news UPDATE 7/12
My face may be different
But my feelings the same
I laugh and I cry
And I take pride in my gains
I was sent here among you
To teach you to love
As God in the heavens
Looks down from above
To Him I am no different
His love knows no bounds
It's those here among you
In cities and towns
That judge me by standards
That man has imparted
But this family I've chosen
Will help me get started
For I'm one of the children
So special and few
That came here to learn
The same lessons as you
That love is acceptance
It comes from the heart
We all have the same purpose
Though not from the start
The Lord gave me life
To live and embrace
And I'll do it as you do
But at my own pace
It's the Creed of Babies with Down Syndrome....
PS. They are the most beautiful babies...
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| Posted 7/12/08 10:04 AM |
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juju
Welcome to the World!
Member since 5/05 6747 total posts
Name:
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Re: My SIL got some disheartening news UPDATE 7/12
So sorry!
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| Posted 7/12/08 10:06 AM |
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