Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.

ABSTRACT: Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel sequencing is based on counting plasma DNA sequences originating from different genomic regions. In this study, we explored a different approach that is based on the use of DNA fragment size as a diagnostic parameter. This approach is dependent on the fact that circulating fetal DNA molecules are generally shorter than the corresponding maternal DNA molecules. First, we performed plasma DNA size analysis using paired-end massively parallel sequencing and microchip-based capillary electrophoresis. We demonstrated that the fetal DNA fraction in maternal plasma could be deduced from the overall size distribution of maternal plasma DNA. The fe

SUBMITTER: Yu SC 

PROVIDER: S-EPMC4060699 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature