A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood


  • Funding sources: The study was supported by a grant from The Fetal Medicine Foundation (UK Charity No: 1037116), by the Swiss Federal Government through the Federal Office of Education and Science, and by Genesupport. The computations were performed at the Vital-IT Center (http://www.vital-it.ch) for high-performance computing of the SIB Swiss Institute of Bioinformatics.

  • Conflicts of interest: Genesupport offers this test for commercial use.


What's already known about this topic?

  • Non-invasive genome-wide screening of fetal aneuploidy by shotgun sequencing cell-free DNA in maternal blood has been shown to effectively identify fetal trisomy 21, but the performance of screening for other aneuploidies is variable.

What does this study add?

  • Optimizing all individual steps in the procedure and performing rigorous quality control provides a test capable of replacing invasive testing for the major aneuploidies.