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

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 (syndrome) 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_n_tn

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
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Avatar_m_tn
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
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Avatar_m_tn
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
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