An Advanced Model to Precisely Estimate the Cell-Free Fetal DNA Concentration in Maternal Plasma.

ABSTRACT:

Background

With the speedy development of sequencing technologies, noninvasive prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal aneuploidy. The cell-free fetal DNA (cffDNA) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of NIPT-based sequencing for fetal trisomies 21, 18 and 13. Several approaches have been developed to calculate the cffDNA fraction of the total cell-free DNA in the maternal plasma. However, most approaches depend on specific single nucleotide polymorphism (SNP) allele information or are restricted to male fetuses.

Methods

In this study, we present an innovative method to accurately deduce the concentration of the cffDNA fraction using only maternal

SUBMITTER: Kang X 

PROVIDER: S-EPMC5035032 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature