Results

A week later, the results of the amnio confirmed the worst – our baby had Triploidy Syndrome and would die. Triploidy Syndrome is the presence of an entire extra set of chromosomes. A normal person, known as a duploid, has 46 chromosomes – 23 from Mom, 23 from Dad. A Triploidy (tri for three sets of each of the 23 chromosomes) baby has 69 chromosomes – meaning it got an extra set from either Mom or Dad. Triploidy can be caused by three different occurances, but most Triploidy cases are caused when a single egg is fertilized by two sperm, known as dispermy.

We set an appointment that day to talk with a genetic counselor. It turns out our baby was really a boy and indicated by the 23rd chromosome being XXYY. A normal baby boy is XY. A “normal” triploidy is XYY. It has never been determined why our baby has four of the 23rd chromosomes. The two Ys indicate that the cause of the chromosome disorder was fertilization by two sperm.

The genetic counselor told us what to expect with this pregnancy. And, yes, we talked about the possibility of termination, but not extensively because that is not available where I live nor at the hospital where I was receiving services. Rather than tell me about my “options,” she told me how the pregnancy would probably go. At 18 weeks pregnant, I was told it is unlikely to miscarry during this phase of pregnancy. I would likely carry my baby to at least 25 weeks gestation. I may never feel him move inside of me because chromosome babies don’t move a lot. He will probably be very small, and I am almost certainly facing a stillbirth.

Oh, and one more thing. I could go visit my regular OB once a week to check for a heartbeat because I would never have a way of knowing if he was alive or not since I wouldn’t be feeling him move.

We had our third ultrasound of the week and decided we were too in love to terminate. God would decide what happened to our baby.