14 Week Ultrasound and Genetic Counselor Meeting

 
We got to see Annelise today in an ultrasound!  We met first with a genetic counselor, who was just the sweetest lady.  She put things in "real people terms" and gave us some other statistics that showed the likelihood of Trisomy 18 being in the baby's blood versus just the placenta, which is where they got the extra chromosome reading.  I don't pretend to understand all the science, but the different statistics looked more like 57% probability that her chromosomes have an extra 18.  This is not a math game though... so we'll just stop guessing and wait for more ultrasounds to see how she grows.  We denied the CVS and Amnio tests because they carry a small risk of miscarriage.  I have decided that at this point, in any future pregnancies I might have, I won't want to get this blood screening test done again!  If it's not going to change anything for us, but it also can't tell us anything definitive except the sex of the baby, then next time I will just have patience and wait to find out if it's a boy or a girl!
    The ultrasound tech and doctor found that her nuchal translucency measurement was within the normal range.  A thicker measurement would have indicated red flags for a chromosomal abnormality.  That's the good news!  They did find some red flags with her development as far as a gut herniation that didn't "fix itself", where her intestines remained in the umbilical cord, when they should have finished migrating back into her body by last week.  That can occur in other babies too, but babies with this birth defect have an increased risk for chromosomal abnormalities.  At this point she is too small to determine any issues with her other organs.  They noted that her chin does seem small, but that more time will need to pass before they can determine if her jaw bone growth is stunted or not.
    That's where we're at right now.  Waiting for the next ultrasound on 1/31/19 at 10am.

I love it when a songwriter basically writes my feelings because they were the songwriters feelings at one point.  Here is my current favorite, written by Matt Hammitt, who had a son who beat the odds and survived with a heart that wasn't fully developed.