The Complete Results

May 6, 2008- 24 weeks 1 day

Once again I was off to school and Brian off to work. We were supposed to get the full amniocentesis results on Monday but since it was a weekend when we had the initial amniocentesis that it was going to take additional time to get back the full results. The test that we were waiting for was the results to determine if our baby had a very rare autosomial recessive disorder called Freyn's Syndrome which has been linked in babies that have CDH. Usually these babies have other physical abnormalities, but the genetic nurse counselor said that she had seen one other patient that everything looked good on the ultrasound besides the CDH defect and it came back Freyn's Syndrome. This syndrome is not compatible with life and all of our children in the future would have the same syndrome. This was the absolute worst case scenario. We had been praying so hard that this was not the case.

We had to wait until Tuesday afternoon for the results. The genetic nurse counselor didn't call until 4:20 and gave us the results. That the amniocentesis came back 100% normal with no genetic abnormalities what so ever. I was so elated. I immediately called Brian and let him know the news. We were so excited to be done with all the genetic waiting. It had been so hard on us, all the worrying that our baby may never be able to survive no matter how much we did. God was defiantly listening to our prayers. Now just waiting to go to the fetal ECHO to determine any heart involvement, which is pretty commonly associated with the CDH defect. Keeping our fingers crossed until then.