Commentary: The Right Way to Use Noninvasive Prenatal ‘Tests’

Not long ago, I met with a patient who had undergone noninvasive prenatal testing (NIPT) that was reported as negative for trisomy 21, 18, and 13. The fetus had a few subtle ultrasound abnormalities but nothing concerning enough to cause her to want to pursue diagnostic testing.

At birth, her baby was diagnosed with trisomy 18 and, sadly, died within 24 hours. The family was understandably shocked and devastated. When I called the ob/gyn, who was not present at the delivery, to tell him of the diagnosis for the child, he said, "That is impossible. The patient had a negative NIPT screening."

This patient's experience, unfortunately, is not as uncommon as you may think.

These past 10-15 years have proven to be a period of exponential growth in the world of genetic testing.^[1] Most of these advances, including NIPT, are beneficial to patients and to society at large. A well-known example is genetic testing for mutations in the BRCA1 or BRCA2 genes. Women or men who choose to pursue BRCA mutation testing, when counseled appropriately, will have information about their own cancer risks that will empower them in their medical decision-making.

The problem we are seeing with NIPT screening, however, relates to the lack of appropriate counseling, both by the lab to the physician and by the physician to the patient.