9 Investigates: Doctors question accuracy of prenatal tests that predict Down syndrome

9 Investigates: Doctors question accuracy of prenatal tests that predict Down syndrome

WINSTON-SALEM, N.C. — Becca Atchison was happy to find out that she and her husband Jarrod were expecting. Because of her age, 35, doctors recommended a non-invasive prenatal test.

"We were on board with that just for getting information, but quite honestly, I think we were most excited about trying to find out the sex of our baby," Atchison said.

A week after the test, Atchison got a call with the results while she was at work. She collapsed shortly afterward. The results showed that her child would have Down syndrome, a chromosomal disorder.

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"It's hard for me to even talk about it, because I think that that was just one of the most difficult moments of my life," Atchison said.

Fear turned into excitement as the couple wrapped their minds around the idea of having a child with Down syndrome and began to think about how special it could be. They researched getting ready for what was ahead.

Then everything changed again in the delivery room.

"I'm lying on my back, can't see anything, totally hazy from all of the drugs. Jarrod is next to me, I can see her (the baby) kind of through this fog, sort of being carried through the room to be checked, and I am kind of looking, because I'm looking for characteristics," Atchison said. "I'm expecting to see characteristics of Down syndrome, and I can't see any."

Piper Atchison was born without Down syndrome.

"We were just sort of in a stage of 'How did this happen?’" Atchison said.

"We owe it to our patients to make sure they get that accurate information," said Dr. Brian Skotko, a board-certified geneticist who is co-director of the Down syndrome program at Massachusetts General Hospital.

Skotko told Channel 9 that the 99 percent accuracy rate advertised on test manufacturers’ websites refers to the test picking up 99 percent of fetuses who have Down syndrome. He said it's important that patients ask for the accuracy of the test if it comes back positive.

Non-invasive prenatal tests, or NIPT, became popular in 2011. Skotko said the technology moved quickly, but the explanation of information to patients hasn't kept up.

"Where I think we are still failing our patients around the country, and in some pockets around the states, is in information," he said.

As testing increases, so do elective abortions of babies who test positive for Down syndrome, he said.

"As testing has evolved, more women are learning about Down syndrome prenatally and, therefore, more women get to make that decision," he said.

Termination never crossed Atchison's mind, but her experience left her with advice for others.

"I would just really caution against someone who makes really sweeping life-altering decisions based on that information," she said.

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