we had our 20 week ultrasound yesterday. michael, harper, my mom and i joined in the room with the ultrasound technician and clustered around the television on the wall that would be showing us the amazing little life that's slowly started making it's presence more known these last few weeks with bumps and wiggles. i loved harper's ultrasound and was so excited for this one, too. i had prepared harper all day that she was going to see her brother/sister on the screen.
i noticed that the tech was spending a lot of time on the heart and brain, and we all commented on how much we seemed to miss at harper's ultrasound. we were paying more attention to all the little details showing up on the screen. the tech gave me a break to empty my bladder and said she had to go write up what she still needed to get a look at, and would be back. she returned and proceeded to get more shots of the heart, in addition to the spine and diaphragm. being in my line of work, i happened to bring up if they looked for signs of down syndrome and other abnormalities during this ultrasound, or if those were only detected in the first trimester screenings. she said they do look for soft signs of several disorders, and in fact she did see one, and would have to have her doctor talk with us. michael said he felt like he got kicked in the gut.
we were ushered into a smaller room, one you typically see in the movies. big, comfy couch, cozy armchairs and boxes of kleenex. we sat and waited for close to 30 minutes, and there were several times i thought i was going to get sick from the anticipation as my mind raced to thoughts i didn't want to be there. when the doctor came in, she explained to us that there were 2 soft signs that showed up on the ultrasound that were related to two different chromosomal disorders. the first was echogenic intracardiac focus in the right ventricle of the heart. eif is a mineralization of calcium, and shows up as a bright spot on the fetal ultrasound. these are most times harmless when develped on their own and seen in typical development, but can also be correlated to children with down syndrome, or trisomy 21. the second soft sign was a choroid plexus cyst in the middle of the brain. cpcs, as with eifs, are harmless and often seen in 3 out of 100 normal fetal brains, but these can also be linked with trisomy 18. this is when i lost it. 50% of children diagnosed with trisomy 18 are stillborn, and less than 10% make it to their first birthdays.
now while this sounds all gloom and doom, our doctor was optimistic. they had really looked at all the major components of the body during the ultrasound and there were no other findings related to either trisomy 18 or 21. the heart had no defects that could be found, the bowels were developing normally, there were 10 fingers and 10 toes. all the other possible signs of either of these chromosomal defects were non-existent that they could see. so where did we go from here?
i took a quad screen blood test last night to determine what my actual risk factor is in having a baby with a chromosomal defect. those results will be in next week. and we scheduled a follow up ultrasound in december to ensure the baby was still growing and look again at these soft signs. we could do an amniocentesis, but i don't know if i want such an invasive test.
so until we get more information, we wait. my mind wanders to all the what ifs. michael researches and keeps us all strong and calm and optimistic. harper continues to live her sing-songy, happy life and keeps us all smiling and laughing. but the waiting is horrible. i have 20 more weeks to ultimately wait and see first, if we're having a boy or girl, and second, if it turns out all this worrying was for naught.
so, i had to share. i'm nervous. i'm sad. i'm angry. i'm fearful. but i'm also hopeful that this baby will be just as awesome as harper is, no matter what happens in the end. and that is what i can't wait for- to meet this little person who is going to join our family, the one who i am still getting sick for several times a week and who keeps me up at night with it's bumps and wiggles.