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.