Baby Update and a Brief Course In Genetics

by beagooddad on June 5, 2007

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We had a bit of a scare last week at the ultrasound. I didn’t mention it because I wanted to know exactly what was going on first.

During the ultrasound, they noticed a couple cysts forming in Taco Supreme’s brain. She said that most of the time the cysts come and go but if they stay that could be a sign of a problem. She said 99% of the time they go away so don’t worry. Nothing can make you worry more than a doctor saying, “I want a second opinion because something looks wrong…but don’t worry, it’s probably nothing.”

The doctor ordered a follow up ultrasound at the hospital where they have better equipment and more specialized neonatal doctors. We were a little shell shocked and never got around to asking any further questions.

The follow up ultrasound appointment ended up getting scheduled for yesterday. After the ultrasound tech did her full baby ultrasound routine, the neonatal doctor came in and did some more ultrasounds spending a lot of time on the head, heart, and hands without saying too much.

Then he had us wait in a consulting room. When he came back he said that there is a portion of the brain the creates the fluid that the brain needs to function properly. That area is full of tiny cysts. When a dominant cyst enlarges and hangs around, that can be an indicator for something known as Trisomy 18 or Edwards Syndrome. Most babies with that condition die before they are born and most of the rest die shortly afterward.

Trisomy 18 is very similar to Trisomy 21 – Down Syndrome. The genes have an extra chromosome. Instead of the 23 from mom and 23 from dad, one side gets a 24th chromosome. With Trisomy 18, the extra chromosome is located at a different location in the genetic sequence then in Down Syndrome and the results are more severe.

Then he finally got around to saying that Taco Supreme does not have Trisomy 18. He saw zero signs of the enlarged cysts that the other doctor saw on Thursday. He also said that there are physical abnormalities that also indicate Trisomy 18 and Taco Supreme has zero of those indicators.

Taco Supreme is completely healthy and he does not need to monitor us to confirm that.

So, how was your weekend?

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