Turner Syndrome

sparkles8991 · September 2019

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!

dpchickens · September 2019

My coworker/'work husband' and his wife had troubles conceiving. They had 5 IUIs and the final one ended up producing a living baby with Turners. It was scary for them, but from what I understand Turners is one of the best diagnosis from that type of cell defect. Their daughter recently got her drivers license and has started looking at colleges. So, dont give up hope yet!

sparkles8991 · September 2019

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 ❤️

chichiphin · September 2019

I'm so sorry you're going through this. While my pregnancy was T13, I went through some of the same stuff. First, the NT scan will probably give you clues to whether or not the pregnancy will last. In Turners, cystic hygromas are common, which if they are big enough, can indicate how likely miscarriage or deformities will be.

The CVS with microarry or an amnio is the only way to confirm the diagnosis, but your genetic counselor will tell you all of this.

It is fantastic that your care team got you in with all three today, which I think shows that you're in good hands there.

One thing to consider is if it seems like the pregnancy will be viable, start reaching out to your local childrens hospital/birth team. You may have a high risk birth & you'll need to deliver somewhere that can handle high risk babies. Good luck.

mercury94 · September 2019

In the interest of happy anecdotal stories. I have a co-worker with a daughter with Turners syndrome. The daughter is now in her 20s and getting married soon.

sparkles8991 · September 2019

Thank you everyone for the support. I Had all of my appointments today. The NT ultrasound was normal, no high fluid level behind the neck or cysts which is a good sign. Her heartbeat is strong at 171 and she was dancing and kicking all over the place! I had the CVS done which took them 3 needle sticks to go in the right way so I am very sore. They said the results will be ready in 14 days which seems like a lifetime away but we are going to do our best to distract ourselves. The dr also said if they collect a large enough sample they will be able to have preliminary results for us in 2 days which would be wonderful. She said the preliminary results are very conclusive and she rarely sees them differ from the final 14 day results. We should know tomorrow if the sample was big enough for that.

the geneticist did say that if the baby does have Turner’s there is a 99% chance of pregnancy loss thru out the entire pregnancy which is the most difficult fact to deal with right now. We are staying optimistic and praying for her. ❤️

chichiphin · September 2019

@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

sparkles8991 · September 2019

Back with an update: we got the preliminary results of the CVS and everything can back normal! I started crying I was so relieved! We will have the full results in 2 weeks but the dr said the preliminary results are 95% accurate plus our NT ultrasound was normal so we are in good shape. I will be 12 weeks tomorrow and now we know we are having a girl, I am beyond excited and thankful!

After we got the preliminary results I started looking online for accuracy of the blood tests we took. What I found was actually quite interesting so I though I would share it for anyone who is thinking about getting the prenatal screen blood tests done. The prenatal screen tests for the most common chromosomal abnormalities (downs, Edwards, and patau) and for these conditions the blood tests are very reliable and have a good reputation for detecting these conditions, they also have a very low false positive rate. However the same prenatal screen also tests for sex chromosome abnormalities, which includes the diagnosis we receive of Turner’s syndrome. Although the blood test is accurate for the other conditions it is far less reliable for Sex chromosome abnormalities and methods of diagnosis are much less accurate. The blood test for sex chromosome abnormalities actually has a fairly substantial false positive rate, yet it is thrown into the same test as the other conditions and advertised as “99% accurate”. I found tons of other stories similar to ours of couple who had a positive for Turner’s and follow up testing showed it was a false positive. I wish I had researched these tests more beforehand as it would have saved us a lot of pain and anxiety. My husband and I decided these blood tests will not be something we do with future children unless the dr says we are at higher risk or she sees something suspicious she wants to follow up in.

Right now we are breathing huge sighs of relief and getting excited about meeting our little girl. I just encourage anyone thinking about these blood tests to do some research beforehand and assess your risk.

sbalding88 · September 2019

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.

lookonthesunnyside · October 2019

@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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