Genetic Counseling

Disclaimer - All of these are purely from memory, I may not be dead on with some of the facts on these tests, so check with your doctor!

 Two days later, on May 15, I had a phone / webinar meeting with my genetic counselor. Her name is Stephanie, and we would eventually become fast friends. (Not really, but she was really great and I'm so thankful for her!)

She sat with me and walked me through all the sequential screening in detail, explaining all the tests. A baby with Down Syndrome usually has the same warning signs that they found with me (high HGC, etc) so that's why my risk was higher. 1/12 can also translate to having a less than 1% chance which sounds way better!

Since this screening was exactly that, a screening, she gave me some next steps that I could pursue for a more definitive answer.

• There's a CVS test, which is more diagnostic, but I was past that point in the pregnancy to do that.
• There's also the cell free DNA test / NIPT test / MaterniT21 test, which is also just a screening, but is much more accurate at detecting the presence of Trisonomy 21, another word for Down Syndrome. This is actually the standard for women over 35, I guess because it's much more common to be high risk as you get closer to 40. Bonus - you get to find out the sex early!
• Going from there is the Amniocentesis, which is the mother of diagnostic testing in pregnancy. They can only do this around 16-18 weeks along, and they stick a big needle in your abdomen and draw out the amniotic fluid. They put the cells in a petri dish and let them grow, then check them for abnormalities. I know a lot of women decline this test because there are risks of miscarriage, it seems to be a controversial topic, which is interesting. 

I had some time to think about this, and what I wanted to do next. I also remember that this was the point when terminating the pregnancy started becoming a recommendation. It seemed so surreal to me. I mean, nobody wants a child that struggles, but I think I could really be okay with having a child with down syndrome. It's even a blessing in some cases. There is also such a high demand for adopting children with down syndrome. If that's the hand we're dealt, then so be it! The unfamiliar is scary, but having a baby in general is the unfamiliar for me anyway! 

I've read a ton on the internet about all of this, and this is the point when most women decline all other tests, because they know they are going to love their baby no matter what, and just want to enjoy the rest of their pregnancy. I was beginning to feel that way. If I had never gotten that first trimester screening, would I be this stressed? There are so many stories of screenings coming back high risk, and the baby is just fine! I took great comfort in that. 

The Genetic Counselor then began offering me more blood tests that could detect the risk of other diseases based on my and Matt's cultural backgrounds.

More stress and worry? Ugh, no thank you.