Abnormal Result for Trisomy 21 Screening

I got the call yesterday that, while my screening for Trisomy 18 and Spina Bifida were normal, my result for the Trisomy 21 test was abnormal. 1:120 chance of the baby having Down Syndrome. The odds are in favor of the baby not having DS, but they're getting me an appointment with a better ultrasound and a genetic counselor. The ultrasound will look for soft markers indicating a DS diagnosis. I've been told not to worry, that most likely it's a false positive, and I would just get a really good look at my baby. Now I'm in the waiting stage of waiting to find out when my appointment is. And then I'll get to be in the waiting stage of waiting for that appointment.

I'm only 22, so I never expected this result. While I really hope it is a false positive, as it most likely is, this is our baby. This baby will be born. Regardless of what shows up.

I will admit I have cried and bawled over this. It's a lot to take in, the idea that your baby may have something "wrong" with it. That the chips could be stacked against your baby when you don't even know if your baby is a boy or a girl. No matter how loved a child is, being different, having special needs, does tend to make life more difficult. And that, of course, is never what a parent wants for their child. They don't want the path to be harder than it has to be.

I have cried. I have looked on wikipedia. I have tried to reason with myself that most likely, nothing is wrong. Everything is fine, and it was just a false positive. That's hard to do though. I don't do so well with the whole sit back and everything will work out thing.

Given the waiting, I'm having trouble focusing on school. This is my last semester. 65-ish days til graduation. But in light of my recent news, it all seems so...small. It doesn't seem as important.

15 weeks 6 days if anyone cares. I should have sucked in my stomach, lol. Definitely a baby bump though.

I'm scared. I'm worried. I'm anxious. I'm impatient. This liminal state is probably worse than being told my baby has Down Syndrome. Cause right now I don't know. And that leaves me with nothing to do, and that's hard.

Check Up Visit

Today, I got to hear the heartbeat again! 153 beats per minute. Made getting up at 7 am worth it (I'm not a morning person). They also drew blood for the quad screening. My doctor and I are both in agreement that if something is wrong, we'd rather know before hand than be surprised during delivery. I want to be able to read all the books and find all the resources I can. I was also warned that false abnormals are not uncommon, so not to panic if it came back abnormal. They'd do some more tests, and most likely things would be normal in actuality. I should also start to feel the baby kick in the next several weeks. That's exciting.

The nausea has largely gone away. It will pop up randomly here and there, but nothing regular like it was. Hopefully, my appetite will return some time soon.

In respect to the quad screening, I thought I'd detail what it tests for. It tests for spina bifida, Trisomy 21 (Down Syndrome), and Trisomy 18 (Edwards Syndrome), as well as anencephaly. It looks at levels of Alpha-Fetoprotein, Unconjugated Estriol (UE), hCG, and Inhibin-A.

So my next visit to my doctor is April 9, and that's when we get our next ultrasound. Hopefully the baby will cooperate, and we can see what gender the baby is.

I found this image online. It's a roughly 15 week baby. Fully developed more or less and waiting to grow and mature.