Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists as a minor fraction among a high background of maternal DNA. Hence, quantitative pe...

Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...

Cell-free DNA has been used for fetal rhesus factor and sex determination, fetal aneuploidy screening, cancer diagnostics and monitoring, and other applications. However current methods of using cell free DNA require amplification, which leads to allelic dropout and bias especially when starting with small amounts of DNA. Here we describe an amplification-free method for sequencing of cell-free...

The analysis of fetal nucleic acids in maternal blood 13 years ago has led to the initiation of noninvasive methods for the early determination of fetal gender, rhesus D status, and a number of aneuploid disorders and hemoglobinopathies. Subsequently, a comparatively large quantity of fetal DNA and RNA has been demonstrated in amniotic fluid as well as small amounts in premature infant saliva. ...

Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...

OBJECTIVE To examine the hypothesis that fetal microchimerism plays a part in the pathogenic process of Sjögren's syndrome (SS). METHODS Genomic DNA samples were extracted from peripheral blood whole nucleated cells and the CD34+ cell enriched fraction of patients with SS and healthy women who had male offspring as well as nulliparous women. A Y chromosome-specific sequence was detected as a ...

Circulating nucleic acids are present in small amounts in the plasma of healthy individuals. However the discovery of circulating nucleic acids has long been explored for the noninvasive diagnosis of a variety of clinical conditions. The first studies concerning the detection of circulating DNA were investigated for finding various forms of cancer. Metastasis and recurrence in certain tumour ty...

Circulating nucleic acids are present in small amounts in the plasma of healthy individuals. However the discovery of circulating nucleic acids has long been explored for the noninvasive diagnosis of a variety of clinical conditions. The first studies concerning the detection of circulating DNA were investigated for finding various forms of cancer. Metastasis and recurrence in certain tumour ty...

Preterm birth, the major cause of neonatal mortality in developed countries, is associated with intrauterine infections and inflammation, although the exact mechanisms underlying this event are unclear. In this study, we show that circulating fetal DNA, which is elevated in pregnancies complicated by preterm labor or preeclampsia, triggers an inflammatory reaction that results in spontaneous pr...

To identify and provide a global assessment of DNA methylation in fetal ventricular septal defect (VSD), genomic DNA extracted from fetal myocardial tissue samples with VSD (n=21) and from normal fetal myocardial tissue samples (n=15) was analyzed for gene methylation using array‑based technology. Furthermore, the KIAA0310, RAB43, SIVA1 and NDRG2 genes were randomly selected for validation anal...