Detection of Fetal Copy Number Aberrations by Shallow Sequencing of Maternal Blood Samples

Motivation: Numerous genetic disorders can be detected in prenatal diagnosis using Chorionic Villus Sampling. As this brings a 1:100 chance for miscarriage, this method is only applied when the fetus is suspected to have an increased chance at having an aberration. It is known that a small percentage of DNA in maternal plasma is of fetal origin...