Genetic Counseling, High Risk OB, results, and more! (part 1)

Alex and I walked into the genetic counselor's office as a big 'ol bundle of nerves. The geneticist instantly put me at ease with her warmth and smile- I was impressed to see her PhD in genetics on the wall- she REALLY IS a geneticist! Lol, I don't know why but I was expecting a counselor more than a geneticist. I could blame it on pregnancy, but let's be real...

She asked about family history on both both sides: disease, birth defects, pregnancy history of our parents and siblings, etc. and she drew little shapes on a piece of paper to represent the info we shared. She was mapping our genes! The closeted (I hope) nerd in me still thinks it's really cool. 

Anyway, what we learned: my quad-screening blood test (which screens for trisomy 21 (Down Syndrome), trisomy 18,  and 2 other genetic disorders that I'm too lazy to google right now) came back with this result:

1 in 285 chance of trisomy 21

1 in 10,000 chance of trisomy 18

So, in and of itself, the 1/285 chance of T-21 was not statiscally significant enough to notify us (I think she said they notify at 1/280 or higher risk- so we were still pretty close). However; the radiologist indication what he thought may be a Cardiac Foci on the heart- a calcium deposit which shines brightly in an ultrasound and is one of the (multiple) clinical markers for Down Syndrome that they look for. 

So, with the combination of statistical likelihood based on my blood test, combined with the 1 potential soft-marker, our statistical probability chance to a 1 in 11 chance of Baby having T-21 (Down Syndrome). I still am kind of shocked at how quickly the numbers flipped! We went from like a .03% chance to a 10% chance- that's super statistically significant! (Says the girl who has never taken a statistics class, and is not a mathematician. Haha.) 

The other potential concern was that baby's kidneys were measuring large which can be indicative of other defects, but that seemed to be less concerning to the geneticist, who informed us that the High Risk OB would look more closely for those markers in our ultrasound, but that the only way to rule out or confirm T-21 with certainty would be to have an amniocentesis, which the OB could perform during the Ultrasound that day if we decided to have it. 

Alex and I went back to the waiting room to await our ultrasound and discuss what we had heard. My sweet husband was concerned about knowing for sure if Sweet Baby O had T-21 because he knew the range of special needs was a wide one, and he wanted to be able to catch any potential heart defects/needs, early on. I'll be honest, I've always known about amniocentesis tests, and I understand their purpose in aiding diagnosis, but when faced with the test being performed on MY womb, and potentially risking the life of OUR baby (though the risk is small, there is still a risk)... I just could not get the image of that needle out of my mind. 

Alex and I decided that we would wait to see what the High Risk OB said and what the ultrasound showed, and we would go from there.