Scientists Find a Noninvasive Prenatal Test for Down Syndrome

SOUTH SAN FRANCISCO, Calif.–Fluidigm Corporation today announced that Stanford University has used the unique properties of the company’s integrated fluidic circuits (IFCs) to help develop a noninvasive prenatal test for fetal chromosomal abnormalities using maternal blood.

This new technique counts chromosomes by finding trace amounts of fetal DNA in a pregnant woman’s blood. The paper — Noninvasive Diagnosis of Fetal Aneuploidy by Shotgun Sequencing DNA from Maternal Blood — was published yesterday in the Proceedings of the National Academy of Sciences. Because fetal DNA shows up in maternal blood quite early in pregnancy, the researchers believe their technique could provide a much earlier and safer diagnosis for fetal aneuploidy than is now available.

Researchers use the Fluidigm chip’s ability to count individual molecules — using digital PCR1 and the company’s Digital Array chip — to set the exact parameters for the sequencing step. This allowed researchers to eliminate costly preparation steps and to speed their way to actual answers.

“Fluidigm doesn’t make sequencing equipment, but using our digital arrays and a kit we call SlingShot™, we make sequencing machines more effective, allow researchers to get real data faster, and enable them to run off of minimal amounts of DNA,” said Gajus Worthington, Fluidigm President and CEO. “Being able to isolate the small amount of fetal DNA in a maternal blood sample is like trying to find a needle in a haystack. But our technology can do it and that provides researchers a new capability that can stimulate breakthroughs in life sciences.”

“This technique is on the leading edge of a flood of different ways that rapid DNA sequencing will be used in medicine,” said Stephen Quake2, PhD, professor of bioengineering and the study’s senior author, in a Stanford University press release. “Non-invasive testing will be much safer than current approaches,” he added.

Quake hopes the test will spot genetic problems much earlier in gestation than the other methods.