Saturday, July 13, 2013

Catching Up pt. 2


This post is going to be crazy long...

We saw a nurse shortly after this to discuss our family history and how the next couple of months were going to go. It was then, she asked us our plans for genetic testing. Since AEDs can cause neural tube defects and I am a high risk pregnancy patient because of epilepsy, she suggested I get a sequential screening. 

This test uses an ultrasound to check for chromosomal conditions such as Down Syndrome and Trisomy 18 & 21. They also take two blood tests in order to determine the risk of neural tube defects. While this test doesn't provide a diagnosis, it is around 90% accurate in assessing risk.

We were sent to see a perinatologist for this and because of my high risk status, all of my ultrasounds will be performed there from now on. The tech used a Doppler this time to do the ultrasound. When we had our original dating ultrasound, I was only 7 weeks pregnant and the baby was too small to measure with a Doppler, so they did an internal ultrasound. She explained that she was going to look for a visible nose plate (babies with Downs have a really really small one) and the thickness behind the neck (if a baby has a chromosomal disorder, the neck tends to be thicker). 

To be honest, this test petrified me. It scared me to the point that I felt like I couldn't breathe when I thought about it sometimes. Knowing that I conceived a child on a medication that could potentially cause harm (although Lamotrigine is an arm and a leg safer than others) is a scary thought. Even though I know I did everything right, I was going to hold my breath until I knew for a fact that everything was okay. The entire walk in, Dave kept repeating to me, "No matter what this says, it doesn't change anything." There are no words for how much I love my husband...

Our little one was sleeping when the ultrasound started. He/she was sleeping with arms above the head, just like Mommy :) The tech gently nudged the baby and he/she began flailing as if to say, "Leave me alone, Mom, I'm sleeping."

Stats: Baby came back with a heart rate of 168 bpm, a very, very visible nose plate (Daddy's nose!!) and a neck thickness of 0.9 and they were looking for it to be under 2.5 in order for it to be considered normal. So the chances of Downs and Trisomy 18 or 21 is very slim. Such a relief.

They told us that they would only call us after the first blood test if they saw that something raised a red flag. It is a week later and still no phone call, so that's a great sign. My second round of blood work for the sequential is August 2nd and that will give us a more clear view. As long as they don't call in between now and then, I feel confident that our little blessing is doing just fine in there :)

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