When their son was born and then institutionalized with Down syndrome in 1961, Lee and Len Herzenberg, biologists at Stanford University, embarked on a search for a blood test that would diagnose the syndrome, NPR reports.
The Herzenbergs are known for expanding upon the fluorescence-activated flow cytometer approach to sort cells. NPR notes that its development was "born out of frustration: Len couldn't stand squinting down a microscope looking at cells."
They then began to wonder whether a FACS machine could be used to uncover Down syndrome. As NPR reports, the Herzenbergs had heard of researchers in Finland who said that it was possible to find fetal cells within their mothers' blood and wanted to see whether these cells could be sorted by FACS and then analyzed. To do this, they hired medical student Diana Bianchi, now at Tufts University.
While FACS wasn't the right tool for the job — there were too few fetal cells to sort and cells generated by previous pregnancies could confound the process — sequencing can spot fetal DNA in mothers' blood, NPR says. This has led to the proliferation of prenatal genetic testing, including for Down syndrome.
One leader in the NIPT field is the medical student who worked with the Herzenbergs. Down syndrome can be uncovered about 10 weeks into a pregnancy and since that's before the related brain changes occur, Bianchi is currently studying in mice whether those changes can be avoided.