The sonographer asked me if I understood why I was there – never a good sign. I explained yes, I understood that my blood serum screening indicated a high chance of Trisomy 18. I began to get nervous almost immediately when, as she was swirling the gel over my belly with the ultrasound stick, she said she would not be doing a full morphological screening today - including the heartbeat today. I knew immediately she couldn’t find the heartbeat and she was stalling.
She found it a moment later and I was relieved. The night before I had read all about Trisomy 18 and the ultrasound indicators. I knew she would be looking for clenched hands, strawberry shaped head, and ‘rocker bottom feet’, amongst other things. I squinted at the ultrasound trying to predict the result…I saw the baby open and close it’s hands…relief. She was very quiet during the ultrasound, then at the end said that she would be right back with the doctor to talk about the results.
The radiology doctor came in, confirmed my name, date of birth and address. He then looked through the ultrasound with the songrapher and quite plainly told me that the baby had a condition called congential diaphragmatic hernia and he was going to go get an obstetrician to explain it to me. He looked very upset. The sonographer quietly asked if I had any questions. In complete shock, all I could think to ask was, "so you didn’t find anything else indicate Trimsomy 18?" She said no. What I didn’t realise thing, was that 20-30% of babies with CDH have an associated chromosomal anomaly.
While waiting in a private room for the doctor, I goggled herniated diaphragm and looked up CDH on Wikipedia. I also called my husband Neil, who was overseas working. When the obstetrician finally came in, she explained what the sonographer found and that it was my choice if I wanted to proceed with the amniocentesis. She said that CDH is treatable with surgery but not if the baby has Trisomy 18. Did I have any questions? I left the room not asking any questions, just completely stunned. I made it to the car before bursting into tears. I rang my husband again from the car.