Friday finally came and this time we were getting the ultrasound done by a perinatologist—a dr who specializes in in-utero baby stuff. We instantly felt comfortable at this place and knew we were in good hands. The tech was awesome…much more personable and comforting than the last one. She explained each thing she was looking at on the baby (by the way, we have a very “content” [lazy?] baby because this was the second time that he would absolutely not open his legs for us to be able to see if he had “stuff.”). It’s so cool so see a little person with ten toes and ten fingers, rolling around and sucking his thumb…and it’s all going on in my belly?! After the initial ultrasound, we got to meet Dr. Nye, our awesome doctor. Here’s what she explained to us:
Our baby’s heart is not “in the wrong place,” it is just rotated a bit to the left. Hearts in most people are turned at about a 45-degree angle to the left and our baby’s is turned almost 90 degrees to the left. This is most likely an indicator of a heart defect, but his little heart is so tiny right now that she couldn’t really get in to see what the problem was exactly. She had a guess about what was wrong and said if it’s that, that it is “very fixable” once the baby is born. This was all manageable news for us to hear, because it’s a little better than what we had been dreaming up all week. However, she then threw something else at us that caught us by surprise. Heart defects are very common in Down Syndrome babies. So with this heart defect, our baby already has a 10% chance of having DS. She also saw a few other “markers” on the ultrasound that are possible indicators of DS. Our babe has very short limbs and he has a bit of a curved finger on his right hand. These are both things that could very well just be genetic (have you seen my legs? Not exactly long.), and everything else on the ultrasound looked good (kidneys, brain, all the important stuff..), but still, those two little markers bumped the chance of our baby having DS up to 20%.
Lots of news to absorb! 20% chance of our baby having DS, along with his already existent heart problem....ug! But…..looking on the bright side, we kept thinking that means there’s an 80% of no DS and those are pretty good odds. Plus, hearing that the heart is probably very fixable was good news. She recommended getting an amniocentesis done to rule out the DS and all other chromosomal anomalies. Because she’s such a great doctor, she fit us in right that moment and did the amnio on the spot. It’s good that I didn’t have much time to think about a gigantic needle being inserted into my belly…eeks! I didn’t watch because it would have freaked me out, but from what Dan says, it was large. They poked the needle through my belly and into my uterus, on the opposite side from where the baby was sleeping (and still not showing his private parts, for the third time) and extracted some fluid for testing. It wasn’t painful at all, surprisingly. I felt a crampy sensation in my back for about a second and that was it. The results of the amnio take a while (~10-14 days) to come back, so Dr. Nye suggested we also have some fluid sent in for a quicker, less-accurate-but-still-very-accurate, test called a FISH test. These results only take about 1-2 days to come back, so...yes please, sign us up! At best, we’d hear something by Saturday. At worst, we’d hear something by Monday. Either way, it was much better than 10-14 days of wonder and worry.
After the appointment, we were even more worried and stressed out than we had been all week, yet we felt an unusual sense of peace and knew that everything was going to be ok.
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