A Change of Mind

December 16, 2015

(MIT Technology Review) – A framed letter from Lejeune hangs outside the office of Diana Bianchi, who is arguably America’s best-known neonatal geneticist. She is celebrated because of the role she’s played in introducing noninvasive prenatal testing and documenting its accuracy and drawbacks. The blood tests she researches are an improved way to detect chromosomal disorders such as Down syndrome, also called trisomy 21, the most common genetic birth defect causing intellectual disability. Since the tests debuted in 2011, according to calculations from Bianchi’s research institute for maternal and fetal medicine at Tufts University, more than two million have been performed.