Special Needs

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

  • I have a friend who has turners.  She is in her 30's is a RN and a very smart woman with a lot going for her. I would actually never had known except we were talking at work and she mentioned it.  She is a little short, but then again so am I, she is around 5'1" and I am only 5'3", so no one can really tell. She has led a very full life.  She didn't take growth hormones and didn't find out until she was 16 yrs old.  She now takes hormones just to keep her on a regular menstrual cycle.  She might not be able to conceive, but she is ok with that, she will adopt.  She is a great woman and she is loved by all.  Hope you find a little reassurance in hearing this.
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  • That is one of the good stories that gives me hope!  Thanks!
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