I had NIPT testing performed on July 30 at 10weeks 3 days and on yesterday 8-8-19 I received a phone call from my GYN stating that my NIPT testing came back high risk for Turner’s Syndrome. I was completely confused and overwhelmed as I didn’t know what my next steps were . My GYN referred me to a genetic specialist for an US to check for fluid and any potential abnormalities that are typically consistent with TS .

My husband and I opted to do the NIPT because I’m considered to be AMA (35) and because I had a positive Quad screen for Down’s with our last 2 pregnancies , however negative amniocentesis and normal , healthy, beautiful baby girls.

So , this is all new to me . The genetic counselor did an amazing job over the phone on yesterday explaining how the test consist of 90% maternal DNA and 10% placental DNA. Which most of this data is fragmented. So of course there is room for error . Based upon the results of my NIPT there is a 41% increased risk for TS. She advised me of my options which were of course the less invasive first frequent anatomy Ultrasounds , fetal echo monitoring which for me still leaves room for a degree on uncertainty, CVS (which she did not recommended only because this information is being pulled from the placenta , and an Amniocentesis (which is most accurate test actually fetal DNA ). I felt comfortable with opting for the amniocentesis because I’m familiar with the process and I know what to expect because I’ve had 2 performed before .

She then went on to say that many pregnancies that are actually affected by TS typically ends in an early miscarriage, some die shortly after birth due to cardiac issues and many may not suffer with cardiac issues and can go on and live a healthy normal and productive lives .

She reference a patient that was turning 21 and she was concerned that something was wrong with her because she never experienced a period - she was diagnosed with TS at 21. Besides being short around 4”8 she was normal , active and a college graduate. Hearing this provided me some much needed reassurance.

Update - I’m 11 and 6 I had an ultrasound performed today 8/9/19 with the genetic counselor and she said while it’s still early everything looks good with baby no extra fluid , they were able to see the kidneys ,bladder , limbs , normal heart rate and abdomen . I have been scheduled for an amniocentesis for Friday September 13th, 2019.