Friday, September 19, 2008

The Amnio Results

Thursday, September 18 – I was out all morning with Kyler and when I got home, there was a message from the genetic counselor saying she had our amnio results. I called her back as soon as I could but she didn’t answer so I left a message. I was anxiously waiting when she called me back about 45 minutes later. I was bracing myself for the worst. When she said the amnio showed no abnormal chromosomal problems I was shocked! This means that our baby boy does NOT have Trisomy 13, Trisomy 18 or Down Syndrome. And, in addition to that, it showed negative for spina bifida which was another concern the doctors had. Praise God!

She did say they are going to check for one more potential chromosomal problem with chromosome #22, Velocardiofacial Syndrome, also known as DiGeorge Syndrome. She said it was unlikely it would show anything, but they were going to test it just to be sure. She said babies with this syndrome can have anything from a mild problem to a severe problem with birth defects, it really depends. But we will need to wait another week or so for those results.

In addition to the amnio results, she had received a copy of Greg’s chromosome analysis (mine hadn’t come in yet) and they came back completely normal. Great news! God is good!

There is still possibility for some genetic or other neurological problems that aren’t tested in the amnio, but the major ones are ruled out! There is no other testing we can do at this point, so again it is more waiting.

As soon as I got off the phone with the genetic counselor, I called Greg and told him the news. We are both relieved, shocked, happy and praising God. It makes us even more grateful for our decision not to terminate the pregnancy and to wait and see what happens. We had prayer together on the phone and thanked God for being with us and for this incredible news we received today! Our anointing service is tomorrow night and we are looking forward to that. We’ll keep you posted as we learn more information but we are overjoyed today with the wonderful news we received!

2 comments:

Valerie said...

Several of the children in our support group have DiGeorge and are doing extremely well.

I am so happy in the findings of your amnio.

Valerie

Anonymous said...

Wonderful news!!! Thanks for sharing!

Valerie
www.chdfamilies.org