On Friday, January 18th (week 20) we went in for our scheduled appointment. First was the genetic counseling session where we went through extensive family history and both answered a million questions. The counselor briefly explained about chromosomal disorders and how they occur, and we discussed Downs, Trisomy 18 and Trisomy 13. She explained that based on my age (34) I already had a 1/348 chance of having a baby with Downs. Based on my blood screens, our chances to have a Downs baby was 1 in 10. Part of the blood screen is that they measure certain levels of protein in the blood. I believe she said it was normal for the protein levels to be at a 1 or under. My HCG levels came back around a 2.5, and another protein came back at over a 3 - thus putting me in the "increased risk" category.
Once we finished that session, they took my blood pressure (for the first time ever it was high - in the 130's), but we chalked it up to anxiety. We went back to the sonogram room where we met the doctor and nurse. They asked if we wanted to know the gender of the baby and we both replied yes! Then the doctor said "Let's find a healthy baby" and started the sono.
The first thing I remember is him saying that the baby is in a breech position.
Then, within what seemed like seconds (though it was probably a couple of minutes), he said "I have seen some things that concern me."
At that point, I think I replied "Already?" and then I pretty much lost it. The very sweet nurse saw me welling up and brought over tissues and stood over me (almost protectively) while she stroked my hair. I think all this happened before Stuart even realized it - he was so focused on listening to the doctor and definitely not used to me being emotional. He grabbed my hand and did not let go for the rest of the appointment.
The rest is kind of a blur, but I know he started going through the list of things that he had found. Not just one thing - but a list! I knew from my research that the "markers" of Downs that they would look for included things like a fold in the flap of the neck and short limbs, but none of what he started to describe did I remember coming across in my research.
What they found:
1. The baby was very small (not in line with the due date)
2. The femur measured short
3. There was a sac of fluid in the abdomen
4. The intestines were "bright" - a sign that something is wrong with them
5. The heart was enlarged and had fluid buildup around it
As I mentioned, it was all a blur when he was going through those issues, but I snapped out of it when he said "I am concerned about the health of this baby." and "I am worried about this baby."
At that point I realized that he wasn't even just talking about Downs anymore - this was much more serious. I asked what could be wrong if it wasn't Downs. He thought that it could be a severe form of Downs, but he was leaning towards Trisomy 18 - a chromosomal disorder that is "incompatible with life."
We were given two testing options to find out for sure: an amniocentesis or a newer procedure - a blood test. We went in thinking we would never do an amnio as there is a risk for miscarriage, but after thought and discussion, we decided that was our best hope for a diagnosis. We knew that the baby had serious complications and we wanted the best possible chance of an accurate diagnosis, so we could start to prepare to help the baby in any way possible.
The nurse told us that they had never had a miscarriage after an amnio, which helped lessen the fear we had. It was quick and relatively painless and we got to watch the procedure on the screen. He stuck a small needle through my belly, just enough to penetrate the sac, and withdrew a large syringe full of amniotic fluid. He explained that the tiny hole that was made in the sac usually seals right back up. If for some reason it does not, that is what causes the water to break and causes the miscarriage. I had to rest for the next 3 days and not lift anything over 5 pounds.
We were told that we would have the results in 3 days - by Tuesday afternoon, so all we could do was go home and wait. As we were leaving we asked the nurse if we could find out the gender of the baby (that thought had left our minds as soon as we found out that something was wrong) and she said that the doctor was not able to tell - probably due to the fluid in the abdomen causing it to swell/distend, but the amnio would tell us that as well.
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