Edward’s Syndrome is what she called it, and the rest was
just a blur. I was sitting at my desk at work the Thursday before our Gender
Reveal Shower when the nurse called with results from our Panorama/Natera DNA Panel. The same
test results that revealed to the host of the shower that Baby Clancy was a boy
also revealed to me that he was high risk (1:32) for Trisomy 18, also known as Edward's Syndrome. The test results are 97% accurate, so our hope for a false positive was very slim.
Symptoms of
Tri18 include low birth weight, small abnormally shaped head, and birth defects
in organs that are life threatening. Edward’s syndrome has no treatment and is
usually fatal before birth or within the first year of life. I was shocked,
devastated, desperate for a more definitive answer, but even more desperate for
a healthy baby.
“Now remember, it is a screening, not a diagnostic test”,
she said as I sobbed uncontrollably. I locked myself in a conference room with
spotty cell service and frantically called Shane.