Positive for Turner syndrome
I received the results of my NIPT earlier and it stated the “sex chromosome result” was increased risk/abnormal. My OB called me a short time later and told me that our baby has Turner syndrome and she will put an urgent referral to the geneticist so we can have our scan early and discuss the results.
I am very confused. When I asked her what to expect with this pregnancy, she said a full term, vaginal delivery just like with my other children. She did discuss some of the potential effects on our little girl, for example infertility, short stature, but made it sound like she could lead a very healthy and normal life. The research I have done suggests that I have a very small chance of a healthy, full term pregnancy and in fact leads me to believe there is an incredibly high chance of miscarriage.
My research also suggests that the true positive rate for this test is only 26% of the positives it results to. I am advanced maternal age (almost 37) which I think gives me some hope that this is all a misunderstanding.
Where do I go from here? Does anyone have any hope? How did things turn out for you if you’ve had the same result?