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On My Mind
January 03, 2017

Reflections on a Prenatal Diagnosis of Trisomy 21 Syndrome

Author Affiliations
  • 1AnMed Health Family Medicine Residency Program, Anderson, South Carolina
JAMA Pediatr. Published online January 3, 2017. doi:10.1001/jamapediatrics.2016.2810

I was 36 years old and 14 weeks pregnant with our second child. I picked up my telephone just prior to the start of a Thursday afternoon clinic. It was a nurse from the obstetrics practice. “We have the results of your cell-free fetal DNA test. It’s trisomy 21…probably not what you were expecting to hear.” Time stopped and I froze; I swallowed hard and tried to remain calm. “Do you want to know if you are having a boy or girl? It’s a girl.” The weight of the news hit me, and I quickly ended the call and left the clinic. I called my husband, who was on the way to his shift in the emergency department. He found a replacement for his shift and turned the car around.

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