We just came out of our Dr.'s appointment with Dr. Read, who's a maternal/fetal specialist, with a focus on genetics. It was overall a really positive appointment. Emotionally exhausting, but postive. He spent about 2 hours with us, going over our quad screen (the blood test I took a week and a half ago) and he spent about 45 minutes on the ultrasound. We knew the screening for down syndrome/spina bifada was negative, but our results were even better than we thought. They basically tell you your risk factor for having a baby with those chromosomal issues. Our risk for down syndrome was 1:38,000 and for a problem with trisomy 18 (or chromosome 18) was 1:10,500. So that was excellent news. He also found not one other physical marker on the ultrasound that would lead him to believe something was wrong besides the heart defect. And they look at everything! He measured femurs, ulnas, the radius of the skull, he looks at the brain, kidneys, stomach, toes, fingers, etc. And everything was perfect. (I'm sure rog would want me to include that his boy parts looked good too =)
So that was great news. Because of the heart defect, they still put us in a category of about 10-15% risk of some kind of chromosome anomoly. The average person w/o the heart defect would be at about a 3-5% risk. He thought we should do the amnio for a couple reasons. 1. It's always good to know what you're dealing with and 2. If there was something seriously wrong with the baby's chromosomes, it would help them decide whether to intervene if I had pregnancy complications. For instance, if I went into pre-term labor, but they knew the baby wouldn't survive anyway, they would not do a c-section and risk my future fertility. So for those reasons, he recommends we know. Rog and I weren't ready to make that decision today, so we asked what our options are. We set up an appointment with him for four weeks and at that point, he'll do another ultrasound to check the baby's growth. If the baby is not growing well, that could be a marker something's wrong, and we would then do the amnio. But if everything's a-ok in 4 weeks, I don't think rog and I will have the amnio done. It's about a 1in 200 risk of miscarriage with an amnio, and I don't feel right about putting my baby at risk when there's no other markers.
Chromosome anomolies can be as small as a learning disability, we found, or an anomoly on a small chromosome like 22 may never even show itself to be a problem. It's very interesting. He was throwing around words like meiosis ... took me back to Biology 101!
So we are celebrating today that our baby looked great and was right on for size (a little smaller than 50%, but look at Rog and me =) and we'll take the next step when we get to it.
I thank you all so much for your prayers and support. We feel so blessed to have such amazing friends and family around us. And we are still praying for God to heal this boy's heart! We know He can do it!
Last but definitely not least, we are thinking baby is going to be Luke! (Lucas Scott would be his full name ... Scott after Rog's brother). Little Luke!