A Prenatal Diagnosis
Written by Anna
Our family’s story in medical parenting began November 22, 2023. I had enjoyed a relatively simple first half of my pregnancy and was excitedly awaiting the results of our 20 week ultrasound. I had only begun to feel the flutters of our baby’s first movements a week prior, and I was regularly reminiscing on the joys of simultaneously watching and feeling my sweet baby boy’s kicks and punches in the hospital’s ultrasound suite the day before. The appointment was relatively quick and simple. It required me rotating on the exam table a handful of times to make sure the ultrasound technician could see all parts of our son, we got a few pictures of him printed off, and we were sent on our way with the promise of the results being sent to my midwives.
That next afternoon I sat in my in-laws’ living room, enjoying the respite our Thanksgiving break provides in the school year, commenting on how everything from the day before seemed to go well. The tech doing our imaging casually spoke with us throughout the appointment, and at no point did one part of our son’s body seem heavily scrutinized, leading me to believe that everything was routine. As Zach and I pulled out of his parent’s driveway that night, I heard a ding on my phone and opened up the new MyChart notification saying that I had new test results. I eagerly opened up the ultrasound report and was greeted with the word “abnormal” plastered in various locations throughout the document. “Rather large omphalocele,” “ventriculomegaly,” “enlarged kidneys,” “brachiocephalic appearance,” and “shortened femurs” were all phrases marked in big bold letters. After a quick mental flashback to an episode of Grey’s Anatomy, I recalled that an omphalocele is an abdominal wall defect where a baby has some amount of their internal organs in a sack outside of their body. Horrified, I relayed the report to Zach and we drove back up his parent’s driveway where we went inside to pray as a family and contact the on-call midwife.
Have you seen my ultrasound report? What does all of this mean? Have you seen anything like this before? Does this constellation of defects suggest some kind of genetic condition? These were my string of questions I had as soon as my midwife picked up the phone. She answered my questions as gracefully as she could while informing me that we obviously needed a major change in my birth plan because our son could no longer be delivered at the birthing center. He could not be delivered in our local hospital in central Washington. We needed to transfer our care to the maternal-fetal care clinic at the University of Washington.
That following Monday I received a much awaited call from UW. The receptionist told me that I was to come to Seattle in one week to have an ultrasound, meet my new OB, chat with genetic counseling, and get an amniocentesis. I knew that my baby could possibly have one of the many genetic conditions associated with omphaloceles, but hearing that I had an amnio already scheduled made it seem so certain. Knowing that the most likely conditions were Trisomy 13 and Trisomy 18, I prayed that if my baby were to have a syndrome, it would be the lesser talked about Beckwith-Wiedemann Syndrome.
After the simultaneous slowest and fastest moving week of my life, Zach and I found ourselves at the University of Washington Medical Center. We were quickly put at ease by the very apparent expertise displayed by every employee we came across. Much joy came from seeing our son via ultrasound and getting some higher resolution photos printed than what our home hospital was capable of producing. We were determined to follow the advice of many friends of ours who also had complex pregnancies handled at UW and find little pockets of joy throughout the day. Other pockets of joy included the news that the omphalocele contained only small intestine- while this increased the likelihood that there was a genetic cause, it also dramatically increased the likelihood that our son’s abdominal wall could be repaired soon after birth. Additionally, we were told that while our original set of imaging had doctors anticipating a Trisomy 18 diagnosis, the new pictures had everyone considering Beckwith-Wiedemann syndrome as the most likely culprit. After the much dreaded amniocentesis and weeks of waiting on results, this was proven to be the case.