A 55 Word Story: The False Negative by Cayman Martin

Kind woman, face smiling through the contractions.
An unexpected pregnancy to parents weary of chromosomal abnormalities,
their cousins afflicted by such.
Now culminating in the birth of a child, both loved and wanted.
Baby Julia is born.
Cleft lip, simian crease, flattened nasal bridge, hypotonia, microtia.
Julia's mother sobs; her quad screen had been negative.

I met this patient on labor and delivery for the birth of her third child, which was unplanned. She had an IUD when her pregnancy test came back positive. While taking her history she told me that she had a cousin with corpus callosum agenesis and that she was extremely concerned that her baby would have chromosomal abnormalities or be born with similar developmental defects. She had appropriate obstetrical care prior to the birth of her baby, including a negative quad screen. However, Julia was born with several characteristics of a Down Syndrome baby. Her parents were very angry and distraught. In hindsight, her OB could've offered her a cell free DNA test, which would have been more sensitive for Down Syndrome than the quad screen. But this was not the case. I thought this was a very valuable lesson in knowing what tests are available for my patients in order to appropriately address their concerns, but to also consent my patients in knowing that these screening tests are not 100% sensitive or specific.