non-invasive detection of fetal aneuploidy from cell-free DNA (plasma; pregnant women). Homo sapiens

It has been known that a small percentage of cell-free DNA from plasma of pregnant women is of fetal origin. We demonstrate in this study the use of high-throughput sequencing technology to detect fetal aneuploidy non-invasively. We directly sequenced cell-free DNA from plasma of pregnant women with high throughput shotgun sequencing technology, obtaining on average 4 million sequence tags per patient sample. This enabled us to measure the over- and under-representation of chromosomes from an aneuploid fetus. Using this method we successfully identified all 7 cases of trisomy 21 (Down syndrome) in a cohort of 13 normal and aneuploid pregnancies.