COMBINED SIZE AND COUNT-BASED ANALYSIS OF MATERNAL PLASMA TO DETECT Fetal SUBCHROMOSOMAL DIFFERENCES

摘要

An aberration in a fetal genome can be identified by analyzing a sample of fetal and maternal DNA. Classifications of whether an aberration (amplification or deletion) exists in a subchromosomal region are determined using count-based and size-based methods. The count classification and the size classification can be used in combination to determine whether only the fetus or only the mother, or both, have the aberration in the subchromosomal region, thereby avoiding false positives when the mother has the aberration and the fetus does not.