Home from the amnio & u/s
So I got to the genetic counselor & we saw her at 11am. She was so nice!!! I can't even believe the difference between todays counselor & the one from the last place. She was understanding, thorough. Then the director of genetics came in to talk to us. He too was so nice & offered us a new test that delves even deeper into the genes. But he said that one of the issues with the test is that there are some "anomalies" that they just know how to interpret. And that's because the test is so new. I declined that test because I didn't want to be worrying when he's 6 mos & not sitting up unassisted whether it was some extra matter on chromosome 12. Ya know? The counselor was absolutely amazing in explaining everything us & was shocked to hear what had happened at the other place. But then she told us a story about a co-worker of hers being charged for things that she shouldn't have been.
Anyway..... I went down to the perinatal office. And we waited a while. But it was so worth it. 1st 2 students came in & played around on the machine & my belly. I didn't care I got to see sean & they explained what they saw. Then I had the anatomy scan done and sean is showing echogenic kidneys. It could mean something or it could mean nothing. The tech was so nice in explaining to us that his kidneys were normal is size & shape & his fluid was plentiful. As long as his fluid is plentiful, it means his kidneys are functioning properly. That's fine with me. The tech also looked at sean's heart again as part of the scan and I immediately spotted the hole. The tech said "wow. You can see that?" So I said, "it's pretty hard to miss. You know the line is supposed to go straight through and that very clearly doesn't." So she said most people wouldn't know that.
Then the perinatologist came in and explained the amnio further. She went over PTL with us and that I should really take it easy until saturday, but if I absolutely couldn't be off my feet that I should use common sense. No long walks, don't lift if I don't have to, etc. She said that right now there is a hole in the bag. It's closing, but it's like a scab. If I move weird or something like that I could pull the scab off and the bag could rupture. I thanked her for explaining it that way, but.... there's not much I can do about it. Ya know? She said the chance of it happening is like 1%, but there is a chance.
The amnio was nowhere near as bad as I was anticipating. It felt very strange, but I had no cramping, no ctx and sean fell asleep afterward. LOL I was hooked up for the nst to ensure I wasn't contracting and everything was more quiet then than it has been the whole pg. I get part of the results tomorrow afternoon. But the perinatologist said she wasn't concerned about downs because he has a well formed nasal bone & that's the biggest soft marker that they look for in downs cases. That made me feel so much better.
Meredith did very well hanging out with MIL in the waiting rooms while we did our thing and when I showed mil the u/s pics, she said how much his profile looks like M. Then she had a disappointed look. Ha ha my kids look like me & my side. My genes are stronger than yours. LOL
Thanks so much for all your thoughts & kind words. 
Re: Home from the amnio & u/s
Glad you had a good experience! I, too, had a great genetic counselor and perinatologist that did the amnio. I had no complications during or after the amnio...not even any cramping or pain.
During the ultrasound, they found no soft markers for any syndromes on my son as well. But, then we found out he did have a genetic syndrome based on the FISH test. The first chromosomal panel from the amnio came back normal, but the FISH test on chromosome 22 came back with the diagnosis of 22q deletion syndrome. In our case, it was nice to know about this before he was born, although his heart defect was our biggest concern and still is.
Like you, the one good thing that came out of all the tests before my son was born is that we got a ton of ultrasounds! We have a whole album full of ultrasound pictures and even some 4D. It was nice to see our little man on the screen moving around as often as we did. You gotta enjoy the little things, right?
Glad you had a good experience!
Just wanted to reaffirm what some of the others said. Dean's specific genetic disorder requires some different treatments than other disorders, so if we didn't know that, it would have a lot of different consequences. I would urge you to get testing done at some point.