At my 24 week appointment on Tuesday, they found 2 soft markers for Down syndrome (echogenic intracardiac focus and a dilated kidney) and a clubfoot, which increases Maverick's odds of having DS. I was alone at the appointment and I'll be honest, very very afraid. They sent an order over for me to see a perinatologist who would do a more in depth ultrasound and discuss with us our options.
Yesterday we met with Dr. Spencer, a perinatologist at St. Mark's hospital in Salt Lake. After a VERY extensive ultrasound with Zach by my side, things felt better. Everything else looked perfectly normal and we got some pretty sweet 4D shots of our baby. Dr. Spencer then told us that with the clubfoot alone, the odds are 1 in 50 that baby has Down syndrome or another chromosomal abnormality.
He gave us three options. 1. Amniocentesis. Very accurate and would give us all the info we needed about Maverick's chromosomes. Also very cheap. The amnio does pose a small risk of ending the pregnancy. 2. Free Cell DNA test called MaterniT21. A very expensive blood test that takes the fetal cells from mom's blood stream and analyzes the chromosomes. Non invasive, poses no risk to the baby and is 98% accurate. Option 3, do nothing and wait till birth. The results of tests won't change anything anyway.
Both Zach and I agreed that we would like to know as much as we could so we could prepare to welcome our baby in the best way possible. We also agreed that knowledge wasn't worth the risk of losing Mav. That left us with option #2, the MaterniT21 blood test. We went ahead and had the blood drawn. The test was sent and it will be 7 to 10 business days for the results.
Now you know the story. It's not the end of the world. Not even close. We don't even know anything for sure yet. I'm adjusting. I love my down syndrome friends. I know they are special and were sent to be in my life for a reason. I know I will love little Maverick with all I have no matter the outcome of a blood test or ultrasound.
I'm still adjusting, and I think that's okay.
To lighten the mood a little I'll share some of my favorites from yesterday's ultrasound.
Profile. They couldn't get one the day before. I love love love it.
It's a little human! Seriously, I'm in love with his little features. He looks so much like Canyon I can't even stand it.
This is his clubfoot. It's his right ankle and will need a series of casts to fix it for the first part of his childhood.
I'm grateful for the technology we have today. Even more so the fact that this little bean is even able to grow. Thank you all for being my support. No matter what, this baby was meant to be a part of our family and lives.
See you in 7-10 business days.