A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

The challenge in noninvasive prenatal diagnosis for monogenic disorders lies in the detection of low levels of fetal variants in the excess of maternal cell-free plasma DNA. Next-generation sequencing, which is the main method used for noninvasive prenatal testing and diagnosis, can overcome this challenge. However, this method may not be accessible to all genetic laboratories. Moreover, shotgun next-generation sequencing as, for instance, currently applied for noninvasive fetal trisomy screening may not be suitable for the detection of inherited mutations.

Source: Journal of Molecular Diagnostics - July 7, 2015 Category: Pathology Authors: Jessica M.E. van den Oever, Ivonne J.H.M. van Minderhout, Cornelis L. Harteveld, Nicolette S. den Hollander, Egbert Bakker, Nienke van der Stoep, Elles M.J. Boon Tags: Regular Article Source Type: research