Turner Syndrome — The Bump
1st Trimester

Turner Syndrome

hi everyone,
this is my first pregnancy, I am 11 weeks and 3 days. I had prenatal screening done through Myraid bloodwork at 10 weeks and 2 days, honestly not expecting anything unusual. My OBGYN called my this morning and said the blood test shows my baby has a 72% chance of Turner Syndrome. I have been trying to make sense out of this statistic since it does not mean the baby has it, it just means she is at high risk for it. I have an appointment scheduled for an NT ultrasound, CVS and counseling with a geneticist but my head is spinning and I am extremely nervous. Mainly the thing worrying me is that the baby will not survive. Most of the data says woman carrying a baby with Turner syndrome will miscarry or have a still born. I will gladly accept the challenges that come from having a daughter with Turner syndrome, I just am praying she is born and is not lost to us.

Does anyone one have any experience with this kind of diagnosis? I am hoping the CVS shows no Turner syndrome and the blood work was a false positive, but that is a small vain hope.  Any and all experiences and stories welcome!

Re: Turner Syndrome

  • Thank you for that ❤️ Right now my husband and I just want her to be born, we are willing to face whatever challenges may come with having a daughter with Turner Symdrome we just want to have our sweet baby girl. I am almost 12 weeks but rate of miscarriage doesn’t really go down in the 2nd trimester for Turners babies and after that there is still a higher possibility she may be still born so right now we are just praying she comes into this world as healthy as she can be. My dr was able to schedule an NT ultrasound, CVS test and consult with a geneticist today so I am hoping to have more info and still somewhat hoping the blood test was wrong and she does not have turners, but I know that is a small and vain hope. I just keep telling her to hang in there and that she is a fighter ❤️
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  • @sparkles8991 I'm happy to hear your NT is good and there is no high fluid anywhere. I'd continue to advocate for ultrasounds frequently to monitor fluid and growth! 

    good luck to you again <3

    married 11.1.14

    ttc #1 since 5.18

    bfp 12.22.18 letrozole + progesterone

    d&e due to trisomy 13/hydrops at 15wks

    bfp 7.21.19 letrozole + IUI 

    little girl A born 3.26.20

  • One of my dearest friends in college had Turner Syndrome. She was one of the funniest, most outgoing people I've ever known. She had some physical differences in appearance,was shorter than the rest of us, and confided to me some of the struggles she had regarding her genetic condition, but she never let any of that get her down. She was also incredibly brilliant at almost everything, helping us all with science and history on a regular basis. She's now a 31 year old woman, and we keep in touch when we can as we live about 1,000 miles away from each other. So whether or not the diagnosis is correct or not, your little girl definitely has a chance to be born and live an amazing life. I don't know the statistics or anything, just my own experience with my sweet and sassy friend. 
  • @sparkles8991 So happy to hear this!! You must be feeling so relieved. Going through pregnancy with a 99% chance of loss would be so so stressful and hard. I have heard of false positive through these tests before and am so glad you were able to do further testing and get proper care. 

    Sounds like your little girl is healthy!

    Congrats xo 
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