This reader’s story involves a genetic abnormality that is very similar to Down Syndrome, in the sense that both conditions are rarely fatal these days and often lead to long productive lives. But sometimes, as in this reader’s case, the diagnosis is much more dire and the uncertainty is agonizing:
I met my husband when I was 33, we married five years later and immediately after started to try to have a baby, knowing that my age meant it might not be easy and that we were at higher risk for our pregnancy to be affected by Down Syndrome or other chromosomal abnormalities. After a few months, we found I was pregnant. I scheduled an appointment for prenatal genetic testing in my first trimester.
That testing started with an ultrasound. I knew immediately that there was something wrong by how the tech behaved.
The doctor came in and told me that the ultrasound was very abnormal, that there was a huge amount of swelling and it was likely that there was something very wrong. We moved forward with genetic testing and found out within a week that the problem was Turner Syndrome, where there is a missing X chromosome.
I learned about this quickly and found that some women with Turner Syndrome have “mosaic” disease, with a mix of abnormal and normal cells, and they can live fairly normal lives other than some physical differences that include not being able to have children. My fetus, however, did not have mosaic disease and did have tremendous swelling that meant there were serious heart or kidney problems. No one could be certain, but it was very likely that she would die inside my body by about 24 weeks of pregnancy.
I couldn’t imagine how terrible it would have been to continue the pregnancy waiting for her to die inside me. My husband and I made the difficult decision to end the pregnancy immediately.
Some of my co-workers who knew what was going on prepared their schedules to cover me when I called in “sick” the day of the abortion procedure. I was very grateful that my obstetrician was able to perform the abortion, even though it was very difficult that this pregnancy was ending in this way.
Within three years after that pregnancy, I had two more pregnancies and now have two healthy children.