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Turner mosaic 45x0(11%)/46xx(89%)
by Alexts, Sep 18, 2009 11:05PM
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
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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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