April 19, 2013

Harmony


The very next week I managed to find my way to the ultrasound office for my level two ultrasound- I guess this means they would be able to see more things? In order to confirm the double bubble and look for other things. I was also scheduled to speak to a genetic counselor at this appointment. I met with the genetic counselor first, and to be honest, it was kind of a waste of time. “Here is what could be wrong…here is how likely it is to repeat in subsequent pregnancies..yada yada yada." Remember, at this time there was no confirmed genetic issue- just the duodenal atresia. We discussed an amnio and I was not interested in having one, I didn’t want a giant needle being poked into my tummy.  During the ultrasound they again saw the “double bubble” and I was told it could be one of two things, duodenal atresia or annular pancreas- either way it meant surgery for the little guy. As I was leaving the Dr. “remembered” about this new blood test called Harmony. In this test they are able to run a DNA test and a karyotype on my blood, which has some of the baby’s blood in it. With this test, they can confirm a Trisomy 18 or Trisomy 21 (Down syndrome) diagnosis, 99.9% accurate. A blood test sounded way better than a needle so I agreed. Then the 12 day waiting period began. 

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