Friday, October 2, 2015

Week 10

Week 10

We had our first appointment with my ob/gyn’s office at 10 weeks. We had an ultrasound performed as well as the blood draw for the genetic test. I went into this appointment hoping for the best but expecting the worst in regard to reviewing my medical history and the fact that I was newly pregnant and most women are over the moon at this point in time.  However, the appointment was with my favorite ob/gyn that I had seen last time around. She was actually the one who was able to refer me to check out the clinic that I ended up going to.  She was very understanding of the situation that we were in and didn’t the “relax, it’ll be okay” aura. She also helped us set up an ultrasound with consultation with the maternal and fetal medicine doctor we had seen last time. We planned to see her and get an early level 2 ultrasound at 14 weeks.

After the doctor was done it was time for the blood draw. Of course it took for-ev-er to get completed. For some reason my blood wasn’t coming out very fast the nurse ended up having to stick me twice to get enough blood. My poor husband was told to leave the room to make sure he didn’t watch the procedure. Once he came back in he was curious what had happened and what took so long.

The results came back a few days later and as requested the nurse who drew the blood called me. As soon as I saw the number come through on caller ID I knew who it was calling. I happened to be at work and just leaving the bathroom so I took the call. The nurse said she had the results and that they came back negative for all three trisomy’s. At this point my heart was pounding but I was very relieved. She then asked if I wanted to know the gender. I of course replied, yes. My husband and I had decided we wanted to know the gender no matter what although we weren’t sure if we were going to tell anyone else.

That was the best news I had ever heard but of course my mind started wondering about the reliability of the test. I immediately texted my husband letting him know I got the test results and to call as soon as he could. After we chatted I shot off an email to the genetic counselor that we had worked with last time regarding the reliability of the Progenity Verifi genetic test.

Luckily, she replied rather quickly with some statistics that helped me breathe a bit:

“Based on your ~1% risk for recurrence of any trisomy given your pregnancy history, as well as the sensitivity (detection rate) and specificity (false positive rate) of Verifi, the negative predictive value (the chance that a screen negative is a true negative) of a "screen negative" Verifi result is as follows:

Down syndrome / Trisomy 21: 99.99%
Trisomy 18: 99.97%

Trisomy 13: 99.87%”

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