Our anatomy scan was yesterday, and we're having a SON! I'm so incredibly happy to know who's in there and to be able to call him "him" and "he" now.
The scan didn't go as flawlessly as I had hoped. He's got an ecogenic intracardiac focus (EIF) which is basically a bright spot on his heart. It's not considered a birth defect and is actually pretty common, but it can be a soft marker for Trisomy 21 (Down's Syndrome). On top of that, he has a choroid plexus (brain) cyst, which again, isn't a birth defect and is pretty common, but can be a soft marker for Trisomy 18 (which is, terrifyingly, "incompatible with life"). If he had only had one or the other, they wouldn't have really been concerned at all. But since he had two different soft markers for (albeit unrelated) chromosomal disorders, they told us that we have the option of doing some testing to rule out the possibilities of Trisomy 18 and 21.
DH and I met with a genetic counselor after our prenatal visit, and she was wonderful. She really thoroughly explained to us that we are still at a pretty low risk for either condition, partially because of my age and partially because baby boy has NO other markers for either condition. His musculoskeletal system is perfect, no holes in his heart or stomach, brain is perfectly formed, both kidneys are there, etc. We also had the chance to watch him swallow a few times in our ultrasound, and to see him splay his fingers out, which are two things that Trisomy 18 babies struggle with and can't do, respectively. But, even though we're still fairly low risk, I cannot rest easy until I KNOW that my little boy is safe and sound. We're going to do a test called MaterniT21, which is extremely new (only been around since October, I think) but also extremely accurate. At worst, we'll have a 99.8% shot at a correct diagnosis. And that's at worst. It's a really expensive test...our insurance will still be paying well over a thousand dollars, but our "copay" is going to be $230-something. That's a lot for us, especially at this point, so DH's mom graciously is footing the bill for the test. This is her first grandbaby...I think she's just as anxious to know that he's ok.
So, as scary as that all is for me, I'm still elated to know that I'm carrying a sweet, tiny, beautiful little boy. Even if he has some kind of condition that we are going to have to prepare for when he's born, he's mine and I am so in love. We haven't picked a name yet, and we might not settle on anything until he's born. I'm notoriously bad about making decisions so I'm afraid to commit to anything at this point.
Here are a couple pictures of our "wee laddie",(lol) as my mom is calling him. We're 20 weeks along today, which is exactly halfway! Woohoo for progress, right?
I know the 3D ones will look better when we're further along but I still think his little nose and lips are the cutest thing!
May 2, 2012
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Congratulations on your baby boy :) I hope the test brings you some comfort so you don't need to worry. Those are great pictures of him!
ReplyDeleteCongratulations on your SON! I'll be keeping you in my T&Ps as your test results come back. Lots of ((hugs))
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