We were referred to a perinatologist for a level 3 ultrasound. Another bit of information we had found, and would find over the next few days, is that there are certain physical characteristics that are extremely common with Edward’s syndrome. Some of these included physical cardiac (heart) abnormalities, club feet, and clenched fists with overlapping fingers. It was expected that these would be visible on this extremely detailed ultrasound to help either confirm or dispute the AFP test results. We contacted the perinatal center to set up an appointment and were told that the first available appointment was one week later. That was an incredibly long seven days.
During the course of the ultrasound, in early June, 2002, the ultrasound technologist was unable to obtain the views he was looking for of our child’s heart. We were told that our first child would be a daughter. None of the other physical characteristics were visible, but we were told that the cardiac abnormalities were the most common. Because we were unable to visualize the heart the way the doctor wanted, we were offered the choice of rescheduling a month later, when the child would be larger, or doing an amniocentesis at the office that day.
The genetic counselor told us that if we wanted to terminate the pregnancy, we needed to find out as soon as possible. Having discussed this with Katie prior to this appointment, we had decided that abortion was not an option. At the time, we chose not to do the amniocentesis because none of the other physical signs were seen. We were rescheduled for another level 3 ultrasound one month later.
That month between visits seemed to last nearly a lifetime. During that time, Katie and I, along with both her mother and mine, did quite a bit more research about Edward’s syndrome. By the time the day arrived for our follow-up ultrasound, Katie and I had convinced ourselves that the AFP results must have been inaccurate. The physical distinctions were so common that we were sure our daughter must have been all right.
During that second ultrasound, we were seen by a different ultrasound technologist. Very little was said throughout the process. While I am a critical care nurse, I do not read ultrasounds, so I was just as in the dark as Katie. The ultrasound tech. left to get the doctor because she said that she was again having difficulties obtaining the desired views. When we asked if there were any visible problems, we were told that if there were, they would have told us.
Shortly thereafter, the doctor and ultrasound tech. returned. The doctor watched while the tech. again tried to find the proper views. Several measurements were made on the screen, but no information was given to us during this process. The doctor finally informed us that there were some physical signs present of trisomy 18. Abigail, our daughter, had a large ventricular-septal defect (VSD), pulmonary artery defect (PAD), and was a week and a half behind her expected size. A ventricular-septal defect is a hole in the wall between the two bottom chambers of the heart. The pulmonary artery defect was a hardening a loss of elasticity of the pulmonary artery – the blood vessel that carries blood from the heart to be oxygenated in the lungs. We knew from our research that these are all characteristic of trisomy 18.
We decided to go ahead at this time with the amniocentesis to verify the diagnosis. We knew that a confirmed trisomy 18 diagnosis would not affect our actions, but we needed to know what to expect. The procedure went without complication, and we were told that we should have results in 7 to 10 days.
I had no idea that ten days could last so long. We called the perinatal center twice during that time to find out if they had received the results yet. We knew that, no matter what happened, God would take care of us. Even with this knowledge, and our faith, we still spent most of those nights filled with tears, and lacking in sleep..
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Trisomy 18 Q & A