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Turner mosaic 45x0(11%)/46xx(89%)

Hello,
My wife is 23 wks pregnant with a girl. A number of days ago we got the results of the amnio fluid test which have shown that the fetus has turner mosaic 45x0/46xx with 30% of abnormal cells. We insisted on doing the FISH test to confirm the result. In the FISH test only 11% of cells (172 cells were tested) were found with turner 45xo, others were normal. Since the FISH test is performed directly on the cells taken from the amnio fluid we may assume that this result is more precise than the first test that had been performed on cultured cells. It should also be noted that so far the fetus develops absolutely fine and all ultrasound tests done so far were absolutely normal with no signs of any kind of patology.
We went to genetic counseling and they explained us the symptoms of Turner syndrom and told that with the mosaic of 11% the symptoms are expected to  be milder (taking into cosideration also that there is nothing abnormal seen on US). Nevertheless, some doctors told us not to take chances and recommeded to stop the pregnancy.
It is a very hard decision to make. My question is: Can anyone tell us what is the probability that our girl will have the symptoms of turner, such as short height, infertility and other problems based on what we know so far - 11% of 45xo and absolutely normal US at 23 weeks. Are there any additional tests that can be done?    

Unfortunately we don't have much time, since if we decide to stop the pregnancy it must be done next week.
Thank you in advance,
Alex

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Avatar universal

Hello Alex,
     I just want to tell you that I have a little girl with Turners Syndrome and she is awesome.  She is 10 months old right now and although we have had some medical issues to overcome this year she will be a normal little girl she is hitting all of her milestones and has a fantastic personality and she is absolutely beautiful.  I can't believe a doctor would tell you to terminate.  She may be a little short and  she will have to face the choice of adopting a child or trying ivf to have a family when she is ready to, but your daughter will be the light of your life.  Turners Syndrome is no big deal at all,  it is just a part of who she is.  There are many facebook groups for turners syndrome girls and parents and I have found them to be a wonderful source for us.  Looking up Turners syndrome online can be scary but you will see real girls and real parents in these groups on facebook and you can ask questions or just read other peoples questions and comments.
Girls with Turners syndrome grow up to be successful women, pediatricians, artists,  lawyers, teachers, or anything they want to be, and they are strong and beautiful.  
I hope this helps you,
Lizzie
Helpful - 0
Avatar universal
Hi Alex,
I did the FISH test, and it comes that all the 50 cells has just a single X.
It`s have any chance to have mosaycism???
My baby have a cystic hygroma on the neck (10mm).
i`m complete lost!
Dadita
Helpful - 0
Avatar universal
Hi

I have read your post and being in a very similar situation was hoping that you would be able to tell me the outcome of your pregnancy.

I am 20 weeks pregnant (next scan in two days). I am pregnant with our first baby who was diagnosed with 8% Turners cells (mosaic) following an amniocentesis. We had an ultrasound at 16 weeks and all looked fine. No defects visible. We have been presented with the facts in a way that shows a positive outlook due to low amount of abnormal cells, no defects on scan and nuchal fold measurement is minimal. They made us aware that we would need to look out for her height/growth around 5 and then later on keep an eye on her puberty development.I am beside myself with worry about making sure i understand exactly how much she would be at risk of suffering with Turners syndrome symptoms/health issues.Although the health professionals have made it sound very positive - on reseraching the condition etc am i right in thinking there realy is no way of telling how much she would or would not suffer with any of the symptoms related to Turners syndrome.We have not been offered genetic counselling - i am struggling to understand what is going on. I am unable to relax and enjoy preganancy or prospect of becoming a Mum with this unknown outcome of how much our baby will be affected. I feel so so very guilty that i am still wondering if we should terminate the pregnancy.

Jeanette
Helpful - 0
Avatar universal
My daughter has 8% and is INCREDIBLE.  There is absolutely no need to terminate a pregnancy just because your baby has Turners.  While it's true she may need more medical attention, she will still be an amazing little girl.
Helpful - 0
Avatar universal
Hey Jeanette,

I read your posting and felt compelled to speak not only as a mom but also as a obstetrical nurse. First my daughter is going to be 8 next month and she has Turner's, not mosaic but 45xo. Her symptoms are so mild that I know for a fact that most people dont know.  Yes she is on growth hormones but many kids without Turners are on them.  I have learned over many years that you truly don't know what your future is to hold regarding your daughter. I have seen many patients been counseled or chosen to terminate pregnancies with complications much less and more severe and that is a personal decision. However I thank god everyday that I wasn't given that choice as I found out when my daughter was five weeks old.  There were many tears but now the smiles and laughter and memories she bring to our lives far out weighs the possible unpleasant symptoms of Turners!  Please think long and hard before you make a de union that will impact the rest of your life!  I hope this helps!
Helpful - 0
2203191 tn?1338775733
Hi! I am a happy and healthy college senior. I am 4 foot 10. I was diagnosed with mosaic TS when I was 14, simply because I did not get my period. I am infertile, but have no health problems. I live a 100% normal life, and your daughter can too. PLEASE do not abort. It is not best for her (the baby) or you. I know this is a difficult time for you and I wish you the best whatever you decide.
Helpful - 0
2203191 tn?1338775733
Forgot to add: Feel free to ask me any questions you might have, and for TS information and statistics, please go to www.turnersyndrome.org. This is my full story if you are interested:http://www.facebook.com/notes/turner-syndrome-is-no-reason-for-abortion/krissys-story/399111383442130
Helpful - 0
2203191 tn?1338775733
Hi! I am a happy and healthy college senior. I am 4 foot 10. I was diagnosed with mosaic TS when I was 14, simply because I did not get my period. I am infertile, but have no health problems. I live a 100% normal life, and your daughter can too. PLEASE do not abort. It is not best for her (the baby) or you. I know this is a difficult time for you and I wish you the best whatever you decide.
Helpful - 0
2203191 tn?1338775733
Forgot to add: Feel free to ask me any questions you might have, and for TS information and statistics, please go to www.turnersyndrome.org. This is my full story if you are interested:   http://www.facebook.com/notes/turner-syndrome-is-no-reason-for-abortion/krissys-story/399111383442130
Helpful - 0
2203191 tn?1338775733
Hi! I am a happy and healthy college senior. I am 4 foot 10. I was diagnosed with mosaic TS when I was 14, simply because I did not get my period. I am infertile, but have no health problems. I live a 100% normal life, and your daughter can too. PLEASE do not abort. It is not best for her (the baby) or you. I know this is a difficult time for you and I wish you the best whatever you decide. Feel free to ask me any questions you might have, and for TS information and statistics, please go to www.turnersyndrome.org. This is my full story if you are interested:   http://www.facebook.com/notes/turner-syndrome-is-no-reason-for-abortion/krissys-story/399111383442130
Helpful - 0

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