Monday, December 8, 2008

perinatology appointment

Here is what I have for a update:

We met with the genetic counselor this morning at 10:30. The Choroid plexus cyst information I had was about half true. They don't really relate it to trisomy 21, down syndrome, they feel that there is not strong enough evidence to correlate the two. But they do relate it to trisomy 18, which is Edwards syndrome. If it was a isolated case, our chances are around 1/432, if it is not isolated than it would 1/92. The kidney problem is called hydronephrosis, which is fluid in the kidney. This problem is related to downs. Once again the normal range is between 1-4mm, we measured at 5mm on our last ultrasound. By 32 weeks the normal range is 5-10mm. With having a boy they didn't' seem quite as concerned about the slightly higher range. With what they found originally my chances were 1/510, with my age it dropped to 1/200. If they found other "markers" then my chances fell to 1/92. At this point my mind was a little over whelmed with numbers so basically if there were other markers for any of the above my chances were 1/92 if there were none they are 1/432. DO YOU HAVE ALL THAT??

We went into our u/s and she did the pictures she needed with my bladder full-let me tell you how unpleasant that was. In fact one of her first comments to me was "wow, your bladder is really full" NO SHIT!! That part took about 15 minutes. At one point she was scanning my lower belly and the baby kicked really hard. I jumped a mile! She asked me if I was okay, and I told her the baby kicked and I thought I was starting to pee my pants. Her and Dh got a pretty good laugh out of that, I on the other hand couldn't laugh or I would have pee'd my pants. After that I got to go to the bathroom. When I came back she scanned more structural parts, hands, feet, legs, etc. Both Dh and I had heard a lot about hands, so we kept looking for fists, which is not a good sign. She also spent a lot of time on the feet, which scared us to death. After all that fun was over, she switched to 4d and got a few good shots. Then we waited for the Doctor.

The doctor came in and reviewed the results. She looked at the the kidney's first. In her opinion, she didn't feel that it was anything to get to concerned about. Next the cyst. As she explained it is very small, only one, and really didn't seem to concerned about that either. What she really wanted to see is if there were other markers such as heart problems, hands, feet- and there were none. In fact she said the heart was beautiful-she couldn't have asked for it to be better. At this point we could breathe. As she stated, there is still a chance, but very small. Normally they want patient back in 2-4 wks and doesn't want to see us for 12 wks. So I don't go back until 32 wks, and that is just to double check everything. I was instructed to just try to enjoy my pregnancy and not to worry. So now we wait, and try to get back to truly enjoying this together. So I leave you with a few pictures:

I couldn't get this to rotate but it is 4d profile shot

This one is has the baby covering his face up, but you can clearly see the nose and lips
profile, normal u/s

This is the original u/s 2 weeks ago


nancy said...

I'm SO happy for you!!! Now let out a big breath, k?

The Boeckmann's said...

Ok, so we are so very happy for you guys. I got home from work today and Ben said to me, "Please tell me that my nephew's appointent went well today" and I said yes it did!!! We were very excited. And I must add that I think that I am going to be a proud aunt to the most handsome little baby boy in the world...did you see that little face?? Oh, he already looks adorable. He made me melt!

mbrandt said...

I have to say a tear formed in my eyes when i saw the pictures - he is going to be a beautiful little boy - who will melt the little girls hearts!! I love those photos and they did remind me of my boys' photos - and how you can really see them changing and growing before your eyes!! His cute nose!!! Love it Love it!!! Take a breath and enjoy!!! Love ya lots!!

Mom said...

Oh, my goodness. Those pictures are really cool. I think he looks like his daddy. Or is that just the grandma thinking so. I don't know but my heart is just racing. I am so excited.
Hugs and Prayers.
Love you
Mom and Dad T.