High resolution size analysis of fetal DNA in the urine of pregnant women by paired-end massively parallel sequencing.

ABSTRACT:

Background

Fetal DNA in maternal urine, if present, would be a valuable source of fetal genetic material for noninvasive prenatal diagnosis. However, the existence of fetal DNA in maternal urine has remained controversial. The issue is due to the lack of appropriate technology to robustly detect the potentially highly degraded fetal DNA in maternal urine.

Methodology

We have used massively parallel paired-end sequencing to investigate cell-free DNA molecules in maternal urine. Catheterized urine samples were collected from seven pregnant women during the third trimester of pregnancies. We detected fetal DNA by identifying sequenced reads that contained fetal-specific alleles of the single nucleotide polymorphisms. The sizes of individual urinary DNA fragments were deduced fr

SUBMITTER: Tsui NB 

PROVIDER: S-EPMC3485143 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature