Babies: 0 - 3 Months

Possible Turner Syndrome

Hello.  I will post this on the Special Needs board as well as 0 to 3 months but I wanted to start here.  If anyone is familiar or went through something similar, please share if you are willing.  I am 13 weeks pregnant with my 3rd child.  We didn't want to find out the gender but we had to I decided to take the Materni21 screening.  All trisomy came back fine; however, it's a girl and the screening showed a decrease in an x chromosome which mean Turner Syndrome in a girl.  We decided to do a CVS and the fish (preliminary results) showed that most of my cells were normal with 1 having one x and 3 having xxx.  They said there is an a 10 to 20% chance the baby still has turners and an 80% chance the abnormal cells are just coming from the placenta.  GC also said that as woman get older (I am 37) it is increasingly common for us to drop or decrease our x chromosome and being the materni21 screening picks up DNA from both mother and fetus, that it may just be picking it up from me.  This is what I hope.  In 7 to 10 days I get the final result of CVS and they will know for sure if it's mosaic but again, they won't know if it's in placenta or fetus.  The only way to know for sure is by amnio.  So far, sono has showed normal NT with no cystic hygermoa (spelling?) or dydrops.  We are thinking that if sonos continue to go well that we may not do an amnio because even if she has mosaic turners we are not terminating.  Any info or advice you are willing to share, I appreciate.  Thank you!

Re: Possible Turner Syndrome

  • My roommate for the first 2 years in college had Turner's syndrome. She lead a normal life and was a PharmD student. She is now married and has adopted a baby boy. She did have more health issues and was 5 ft tall.
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  • I had a student with Turner's. Beautiful, happy little girl. She gets growth hormones to help her grow. She's also a little bitty thing. :)
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  • hi,
    my sister has Turners. She is 28 years old and a teacher. She has lived a normal life. She did get growth hormone shots when she was a child. She is a little over 5 feet.  She played soccer in high school and was on the swim team. You would never know she had Turners unless you actually asked!! Most people don't know she has it.  She does take birth control to regulate a period every month. My sister is amazing and Turners is sometime that is livable!! God bless!!
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