Tuesday, June 19, 2012

Don't Stop Believing.

So, now that Mark and I know what is going on, I feel comfortable sharing this with everybody who wasn't aware anything was evening wrong.

A month ago I was flagged for Trisomy 21. That is how we found out Madison was a girl at 17 weeks rather than during my original 20 week scan we had scheduled; we needed an ultrasound to narrow down the likelihood that Madison would be born with Down Syndrome. Going into the geneticist we were told that from my blood test they had noticed an abnormally large presence of one of the four hormones that are released during pregnancy. With what they saw, they put Madison in a 1 in 40 chance for Down Syndrome. After speaking to the geneticist we were sent for the second tier; an ultrasound. Everything measured perfectly, but there were two soft markers. Soft markers are common finding in babies with Down Syndrome. The first soft marker was a Choroid plexus cyst in the baby's brain. This would not affect the baby's brain, and they are found in perfectly healthy babies. They typically go away on their own. They also found a dark spot in the heart, typically they are calcium build ups. Also, the baby's heart would not be affected by this, and perfectly healthy children have this as well, but it is a soft marker. These two soft markers brought her chance of being born with Down Syndrome to 1 in 20.

After that we were sent into a consultation room. We were told about the soft markers, and asked if we had decided if we were going to go ahead with Amniocentesis. Amnio testing does have a risk of miscarriage, I had already researched it, and I was not okay with that so I declined immediately. Earlier in the appointment we were told about a test, MaterniT21. It was another blood test. They would take my blood, thus no potential for harm to the baby, and from that they could find DNA from the baby to count chromosomes. It is 95-99% effective in diagnosis Trisomy 21, more towards 95% for Trisomy 18, and about 65% for Trisomy 13. They weren't concerned about 18 or 13, just 21, so I agreed to have that test done. I was told it would take two weeks for the test results to come back, and they did. Today.

Today I got a call. The area code was Wilmington, where my appointment was, so I knew exactly what they were calling to tell me. They were calling to tell me whether my baby was going to be born with Down Syndrome or not.

On or around November 11th, 2012 I will have a baby girl. Her name will be Madison Brianna J. and she will be beautiful and 100% healthy. I nearly cried on the phone, but I pulled it together. The tests came back negative for all forms of Trisomy. She will be a normal, healthy baby girl. I felt in my heart that everything was fine, but it feels so much better to have that reassurance.

2 comments:

Ashley Warren said...

I'm so glad that everything is okay with Madison. You're going to be a wonderful mother.

Nora said...

I'm SO glad you got good news back!!! She is gonna be GORGEOUS and I can't wait to see her :)