18 wks Pregnant - Daughter diagnosed with Turner Mosaic 45x, 47xxx

Vane - posted on 09/15/2016 ( no moms have responded yet )




I am new to this blog...I am pregnant with my first child (18wks). My husband and I just confirmed via amnio that she is mosaic turner (45x(7),47xxx(8)). On the 1st sonogram the NT measurement was a bit high (3.1) which is still within the normal range. My Fetal specialist suggested I skip the NIPT screen test and go straight to the CVS due to my age, I am 37. The FISH came back normal so we were thrilled, only to receive the bad news a few days later that the rest of the results confirmed turner. We wanted more confirmation and we decided to do the Amnio. The Amnio confirmed the she is Mosaic Turner. We did an echo and her heart is normal. Her measurements are normal, and the NT measurement has actually reduced to 2.1. I have been reading about this syndrome day and night. I have been back and forth between continuing with the pregnancy or terminating. From all the reading it appears that we may possibly be on the milder side and any symptoms seem to be easily manageable....however, my husband is petrified and wants to terminate, he is only focusing on the negative aspects and thinks that we will be in and out of hospitals and doctor visits for the rest of her life. I am reaching out to mothers of children with mosaic turner and how their child has turned out. What can we do to prepare? And how did you convince your husband that everything will be ok? There are so many uncertainties. I am so stressed, and the worst part is that I have not been able to enjoy the pregnancy one bit!.

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