In the second trimester of my wife's second pregnancy we were recommended to have amniocentesis since she was 39 years old. We didn't hesitate to have the test done as we were sure there would be no problems. This didn't prove to be the case.
The results of the test indicated a mosaic, meaning that 3 of 15 tested cells (20%) had a Ring 18 abnormality. We met with a genetic counselor who proceeded to scare us to death with the possible outcomes of this mosaic - anything from dry skin to physical deformation to mental retardation. She said the chances of our child being normal were remote. We were devastated, and all the joy had been taken out of this pregnancy.
We had a detailed ultrasound done and everything appeared completely normal. We were warned that genetic defects might not show up on an ultrasound so we requested a second amnio. We were sure that the first results were wrong. But the second amnio was virtually the same as the first, with 4 of the 15 cells containing Ring 18.
Late in the second trimester, with inconclusive results and completely normal ultrasounds we could not justify terminating the pregnancy. This was not a "pro-life" decision, it was just the only one we could live with. The ghastly termination of a 22-week baby who could be completely healthy was more than we could bear emotionally.
As the pregnancy continued we tried quite successfully to put the amnio results out of our minds in anticipation of a normal baby boy. The ultrasounds continued to be completely normal, as was the bi-weekly fetal monitoring recommended by the doctors. I theorized that since the cells in the amniotic fluid consist mainly of skin tissue, perhaps the abnormal cells were from the placenta, and perhaps the placenta doesn't use the information contained in 18 for its development? This theory was as plausible as anything the specialists could tell us.
On delivery day I was quite nervous, and I imagine my wife was as well - probably more so. After all, she was the one giving birth. The delivery was quite easy - easier than our first had been. When Nolan was born he was immediately handed to a team of five genetic and neonatal specialists who worked him over from head to toe for at least 20 minutes. I watched eagerly over their shoulders at what looked to me to be a perfectly healthy baby boy. The lead of this team then came over to us and congratulated us on the birth of a perfectly healthy boy - we were thrilled!
The hospital decided to have a genetic test performed on the cord blood after Nolan was born and those results came back completely normal. It is possible that Nolan has a Ring 18 lurking somewhere in his body that is not evident, and it is also possible that he might have associated developmental issues as he grows up, but I doubt it. Something in my heart tells me that this boy is as normal as any can be.
Looking back, we are extremely happy that we made the right choice in ignoring the amnio test results and not terminating the pregnancy. For those of you who have not been as fortunate as we, this information may hold no value. But for those of you facing a similar dilemma as ours, it may be just what you needed to hear in order to make a clear decision and to be able to enjoy your pregnancy. We wish you all the best.