receiving our diagnosis!!!

When I was pregnant with Brooklyn, at my 20 week check up I was told that we had the option to do a blood test called the quad screen to test for risk of genetic defects such as neural tube defects, trisomy 21, 13, & 18. Thinking that of course there was absolutely nothing wrong with my baby girl we agreed. Not thinking much more about the test I received a call from my OBGYN stating that I need to see a high risk Ob doctor and speak with a genetic counselor to discuss the results of our quad screen.

The genetic counselor explained to us that our results were for high risk of a chromosome abnormality called Trisomy 18, this is when 3 copies of chromosome 18 are present. She went on to explain that T18 is considered to be "Not compatible with life." and that most babies with T18 don't make it to Birth and if they survive birth it is not likely that they will live more than a couple hours, maybe days. Doctors will perform no measures to save these babies lives.

We were devastated to say the least. She told us that a High resolution ultra sound would be able to tell us more and get a more definite answer. During the ultra sound I remember asking the sonographer if every thing looked to be normal, she said "I can not say the doctor will be in to discuss the findings with us in a moment. " The doctor said we believe that your daughter has a heart defect called tetrology of fallot this further confirming the possibility of a genetic defect. She explained that we could do an amniocentesis to get a 100% diagnosis of a genetic defect.

We agreed to do the amniocentesis and I remember waiting for the results seemed like such a LONG wait my husband an I were both so anxious. As we both listened on the phone receiver, we heard "your amnio test results were NEGATIVE!!! for Trisomy 18 (I could have jumped through the roof) then I heard the genetic counselor say BUT, Your daughter's results for a test called FISH came back positive. This means that your daughter has Velo-cardio facial Syndrome (VCFS) a deletion of a portion of the 22nd chromosome. "

Having absolutely no clue as to what this was I started to Google like crazy, trying to find out everything I could!! To be the second most common genetic defect (1 in every 2000 births) my husband and I, along with all of our family had never even heard of it.