Twelve years ago I found out I was pregnant with my first child. I was 38, which meant that I was at increased risk for having a baby with abnormal chromosomes, especially Down syndrome.
I carefully chose a doctor to do the chorionic villous sampling test in my first trimester. I went for the testing without my husband because I thought it would be straightforward and we’d be getting results later. That turned out to not have been the best decision.
In order to do the test, they first do an ultrasound to see if the fetus is positioned in a way that it can be done. After the tech did the ultrasound, she left and told me that the doctor would be in shortly. He came in the room, sat down, looked at me and told me that the ultrasound was abnormal, that the nuchal translucency (a measure of the thickness of the tissue on the back of the neck) was 6 mm when it should be 2 mm. I quickly learned that this meant that there was a lot of swelling of the baby’s body and that it meant that there was something very wrong, most likely a genetic problem that caused a problem with the heart. We could get more information by completing the testing, which we did that day. Then we waited for the genetic results.
When we got the results, we found out that she had Turner syndrome, with only one X chromosome. I am a doctor and I knew something about Turner’s syndrome. I had met women with it, knew that they were infertile and had some health issues including heart problems. What I didn’t know was what I then learned—most girls born with Turner syndrome had “mosaic” Turner syndrome, where only some of the cells in their bodies have the abnormal chromosomes and the other cells have normal chromosomes. I also learned that only a very small percentage of fetuses with Turner syndrome survived to birth, that most died in the womb at 19-24 weeks. It was pretty clear because of how swollen she was that my baby was not one of the lucky ones. The testing confirmed this, showed that she did not have mosaic Turner’s. We knew that we were going to lose her. It was a really terrible time.
We chose to end the pregnancy rather than wait for her to die inside me, which sounded like absolute torture as well as having some risks for my health. No one knew that I was pregnant other than my family and a few good friends, and I was very grateful for that. I was also grateful for the care that my amazing OB/GYN provided as she compassionately helped us through this decision and the procedure.
I’ve since had another daughter and a son who are now 9 and 10, feel very fortunate to have them in my lives, but as I write this I am crying for their sister.
Image courtesy of Pixabay.