New blood test shows if an unborn baby will have Down Syndrome
POSTED: Thursday, May 17, 2012 - 9:00am
UPDATED: Thursday, May 17, 2012 - 10:22am
NBC NATIOANL NEWS — Jen Schaefer is expecting her second child in September and because she is 38 she opted to do some testing.
"I had an initial screening that showed the baby had an elevated risk of Down Syndrome," said Schaefer.
Jen considered Amniocentesis, but was concerned about the risk of miscarriage estimated to be as high as one in 300.
On the same day of her ultrasound, Jen took a blood test that looks at the baby's DNA.
The New Harmony Prenatal test was developed at Ariosa Diagnostics.
"This test can be done at any time point after ten weeks of pregnancy. So not only can it be done early, but it could be done at any time point after that whereas the current tests that are out there today has to be done within a very defined time window," said CEO of Ariosa Diagnostics' Ken Song.
After waiting two weeks, she received her results.
"I was so thrilled to get a phone call that our risk was as low as we could be ...it's always nice to have that extra level of assurance," said Schaefer.
The results gave her the confidence to skip invasive amniocentesis.
Lucile Packard Children's Hospital is one of the first in the nation to offer the New Harmony test to patients.
"I think absolutely it is saving women from having an amnio. We're already finding that because fewer women are found to have a high risk so fewer go on to have amniocentesis," said Dr. Mary Norton, Perinatal Research Director.
Jen says the test gave her peace of mind during pregnancy.