the first time our lives turned upside down was when Landon was born. the second time, it was June 28th and i was freshly 12 weeks pregnant. we were on the verge of starting to break the news to our friends and extended families that Landon would be a big brother. up until now, everything was pretty textbook. baby looked healthy, had a strong heartbeat, and was developing as expected. overall, i was feeling pretty good – minus some nausea and a few food aversions.
we were still living in California at the time and in California, the state pays for a prenatal screening program for anyone who would like to opt into the additional testing. for me, and us, it wasn’t something that my doctor strongly recommended we do given my age and clean family histories. the chances of a chromosomal abnormality were extremely low. however, we did the screening when i was pregnant with Landon, so we decided we would do it again. best case scenario, it was an extra ultrasound and chance to see our baby. worse case scenario, we would learn about potential risks that we would have time to educate ourselves on before the baby is born.
we sat in the exam room at maternal fetal medicine, Landon in tow because our babysitter wasn’t available, watching the sonographer work her magic and show us our baby. baby was happy, moving around like crazy, and made it a bit challenging for the sonographer to get the measurements. we thought it was pretty cute.
during this visit, the sonographer measures the fluid space between the neck and outer dermis. in combination with blood work done before the exam (and eventually after), they use algorithms to determine your baby’s risk of a chromosomal abnormality.
after the sonographer wrapped up her measurements of baby, we waited for the doctor to come in and deliver the results of the first two portions of the screening, the blood work and NT ultrasound. Landon was getting restless, as it was starting to get late for his afternoon nap, but we fully expected to be out the door in ten minutes with a sleeping baby in the car. that’s when the doctor arrived to deliver the results.
all I remember him saying was “i wish i had different news to share with you, but unfortunately your screen came back positive. high risk for chromosomal abnormality.” we both sat there stunned. in shock. not sure what to ask or what to say. there were no tears (yet) and i thought i was going to wake up from this bad dream at any moment. i was in disbelief that anything could be going on with our baby. we were told we would meet with the genetic counselor next before we would be on our way.
in the meeting with the genetic counselor, we were fighting our restless 14 month old and our emotions. we learned that our baby’s neck measurement was 6mm and the threshold for “normal” was 3mm. we learned my blood proteins were also very low for the normal range. we were told we now had a 1 in 5 chance of our baby having down syndrome (trisomy 21), trisomy 13 or trisomy 18. we were given all the information we needed to decide the next course of action we wanted to take, aka what further testing we wanted to do to learn more about what was going on with baby. after all, this was just a screening test that could have resulted in a false positive.
we took our information, uneasy emotions, and restless toddler as we exited. our next step was another meeting 4 days later for further counseling and testing. until then, we needed to process, pray, and research. needless to say, we waited to share the news about baby #2 until we had a better handle on all the unknowns.
the next 4 days, and subsequent week, were some of the darkest days of my life.