Analysis of cell-free DNA (cfDNA) in the blood has shown promise for monitoring a variety biological processes. Plasma cfDNA is mixture comprising molecules released from various bodily tissues, mediated by characteristic fragmentations occurring during cell death. Fragmentation non-random and contains tissue-of-origin information, which been demonstrated circulating fetal, tumoral, transplante...

We applied a noninvasive prenatal test for the determination of fetal gender in multiple pregnancies by using free fetal DNA circulating in maternal blood in order to evaluate whether the quantification of male DNA could distinguish the fetal gender and the number of male and female fetuses in multiple pregnancies. We enrolled consecutively 44 women with twin pregnancies between 11-14 weeks of ...

Prenatal diagnosis of genetic disorders has traditionally relied on invasive procedures such as amniocentesis and chorionic villus sampling (CVS). As these procedures carry a small but significant risk of pregnancy loss, a convenient noninvasive prenatal diagnostic has long been sought. Although fetal cells circulating in the maternal blood have been used for prenatal screening, because of thei...

T he discovery of fetal DNA in the plasma of pregnant women has led to the development of promising approaches for non-invasive prenatal diagnosis. However, as fetal and maternal DNA species co-exist in maternal plasma, these DNA based diagnostic applications depend largely on the use of genetic markers that would allow the discrimination between fetal and maternal DNA (for example, the Y chrom...

The discovery of cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Over the last few years, a number of approaches have been demonstrated to allow such circulating fetal nucleic acids to be used for the prenatal detection of chromosomal aneuploidies. One such approach involves the enrichment of fetal DNA, such as by size fractio...

OBJECTIVE To verify whether the leptin gene epigenetic (DNA methylation) profile is altered in the offspring of mothers with gestational impaired glucose tolerance (IGT). RESEARCH DESIGN AND METHODS Placental tissues and maternal and cord blood samples were obtained from 48 women at term including 23 subjects with gestational IGT. Leptin DNA methylation, gene expression levels, and circulatin...

OBJECTIVE The fraction of circulating cell-free fetal (cff) DNA in maternal plasma is a critical parameter for aneuploidy screening with non-invasive prenatal testing, especially for those samples located in equivocal zones. We developed an approach to quantify cff DNA fractions directly with sequencing data, and increased cff DNAs by optimizing library construction procedure. METHODS Artific...