The day we found out there was something wrong with our baby’s heart, we opted for an amniocentesis, which looks at baby’s chromosomes to see if there exists a genetic mutation that caused the defect. When I sat in the room a year and a half ago and received the news that Lauren had a heart defect and a brain defect, I opted for an amniocentesis at that time as well. Her results came back and gave us some answers about why she was born without the nerve connection between the left and right side of her brain (corpus callosum). She has a duplication on the 6th chromosome- 6q25.3- and the change partially duplicated the ARID1B gene which is implicated in neurodevelopment. Because of Barry and I lack of mutation at that chromosome site, geneticists are confident it was this super tiny change that caused her brain not to develop properly.
We were told that aortic stenosis in a fetus is generally something that happens sporadically. I’ve read that 6 in 1000 babies are diagnosed with critical aortic stenosis, with a majority of the cases affecting boys. The cardiologist told us that some research has isolated just a two or three genes associated with the development of this condition, and in a normal amniocentesis with microarray, they wouldn’t be picked up. Sometimes infections in a mother can contribute to aortic stenosis, including contracting rubella while pregnant. Of course, I didn’t have rubella, I’ve been vaccinated and I have tested immune with blood titers since. I do not smoke, drink, use drugs. I don’t take medications contraindicated in pregnancy. And baby does not have anything wrong with any of his chromosomes. So. Idiopathic. Meaning, random, not linked to anything in particular. Shit luck.
I wasn’t expecting for the amnio to give us any answers. And I know we will never have answers as to why this happened to our little boy. And so, we wait. For whatever is going to happen between today and the end of November.