Results Are In!

Normal Baby Boy.

No trisomy of any kind. No neural tube defects. Just a healthy little boy on the way.

I can seriously not even put into words what a relief it was to get that phone call. Knowing that there is a decent chance there may be an issue with your child and then having to wait to find out for sure...its torture.

Getting this news is seriously one of the best days of this entire pregnancy.

Impromptu Anatomy Scan

I feel a little weird doing two posts in a row, but I don't want to leave people hanging after the last post.


Yesterdays appointment with a specialist turned out to be A LOT more than just a consult. I'm so incredibly thankful my husband was able to get out of work in time to join me.


Not only did we get a consult, but we also got an impromptu anatomy scan. They did a Level II u/s looking specifically for the markers of Downs Syndrome, but also did a general check to see how the little one was doing overall. Since I'm far enough along to tell if baby is a boy or girl, we got to find that out a couple weeks earlier than expected as well.


Baby BOY did not have a single marker detected on the ultrasound for Downs Syndrome. Not one. I was especially relieved to see the heart looked perfect given my previous experience with Downs babies.



However, since only 50% of Downs babies have detectable markers in ultrasounds AND our risk ratio was so high (1:10), we did an amniocentesis yesterday. That's really the best way to get a conclusive yes or no answer at this point in the pregnancy. Results of the amnio should be back in a couple of weeks. Yeah, the wait will stink...but I'm feeling so incredibly much better about the situation after seeing Baby Boy pass yesterdays ultrasound with flying colors.


The anatomy scan itself was pretty neat. They looked at everything it seemed. Head measurements, heart, kidneys, toes...you name it. I'm kind of bummed the images of the little guy sucking his thumb didn't make the cut for the CD we got. Also there was one of his little leg and foot that was precious that we didn't get a copy of either. Its really amazing to see how much he's changed in the last month. He's gotten a lot bigger and has a lot more meat on his bones. Finding out the gender was just a bonus, but we're absolutely thrilled. My intuition was right!


The amnio was nerve wracking, but it wasn't as bad as I thought it might be. Once I told them we were going to go for it, they whipped out a pre-sterilized kit and got right to business. Everyone gloved up. I got swabbed down. From there they took the ultrasound wand and found where baby was. They got him turned so he was facing away from where they were going to poke and pinned him there by keeping pressure on the ultrasound wand. I didn't watch the needle go in, just kept my eye on the ultrasound screen. The needle prick didn't hurt much more than any of the bazillion blood samples I've given this pregnancy. It was kind of scary seeing a needle in the same tiny space as our little one, but they did really well to stay away from him. I'm under doctors orders to take it easy the next couple days and to go to Labor & Delivery if I have any signs of infection, fluid leaking, or possible miscarriage. Thankfully I've had none of that thus far, just some discomfort at the needle site on par with any other time I've been stuck.


This picture sums up how they did the amnio better than I probably did. (Photo credit: http://modernmedicalguide.com/amniocentesis/.)



Funny moment after the amnio yesterday: As they were decanting the sample from the needle into vials after the procedure was done, I blurted out, "Wow, it really does look like pee." Classic.

1:10

I had an OB appointment today. It was mainly just to check in and to listen to the heartbeat with the doppler. I also (finally) got my results from the NT scan weeks ago.

First the good news: Baby had a heartbeat and it was right on target for 17 weeks (~150bpm). Baby was moving all around in there. I also found out that that strange 'bug walking around inside of me' sensation I've had several times in the last week (and once at 13 weeks!) is, in fact, fetal movement.

Now the bad news: My NT results show that Baby has a 1:10 chance of having Downs Syndrome. To give you some perspective on this, based on age alone my risk was more like 1:400. These are not favorable test results. Based on what I can tell, the risk is largely going by the blood test results since the ultrasound itself showed no obvious problems (measurement was 1.4, nasal bone present, etc).

I have an appointment tomorrow with a specialist in Fetal Assessment. I'm hoping to have them go over the results with me, particularly the blood tests, to make sure that my doctor interpreted them correctly (she told me I was the first patient she'd ever sent for an NT Scan). Beyond that they will more than likely recommend an amniocentesis.

We'll likely go through with the amnio. I don't like the idea as there is a small risk of a miscarriage, but the idea of 23 weeks of not knowing what is going on with our child is even scarier for me. Plus if we are the 1:10, there are specialists who'd need to be seen to check for some other issues common with Down Syndrome babies.

Not going to lie, I'm terrified. My only close association with Downs Syndrome is with a cousin that died as a child of a related heart defect. I know there are wonderful stories out there, and I know firsthand the incredible amount of love Downs children have to share, but I also know that there are very real risks that come with it.

In the meantime, trying to focus on the fact that there is a 90% chance baby is perfectly fine.