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 ...

Both intact fetal cells as well as cell-free fetal DNA are present in the maternal circulation and can be recovered for non-invasive prenatal genetic diagnosis. Although methods for enrichment and isolation of rare intact fetal cells have been challenging, diagnosis of fetal chromosomal aneuploidy including trisomy 21 in first- and second-trimester pregnancies has been achieved with a 50-75% de...

cell free dnas (cfdnas) are small fragments of genomic or mitochondrial dna releasing from cells into the blood stream. the presence of cfdna in the human circulatory system has been shown for the first time in 1948 however, the potential clinical applications of cfdna remained unknown until recent progress in detection and quantification of these molecules by sensitive methods. in this paper, ...

Background: Fetal sex determination is useful for families at risk of X-linked disorders, such as Duchenne muscular dystrophy, adrenal hypoplasia, hemophilia. At first, this could be obtained through invasive procedures such as amniocentesis and chorionic villus sampling, having a 1% risk of miscarriage. Since the discovery of cell-free fetal DNA (cffDNA) in maternal plasma, noninvasive prenata...

Since the identification of fetal lymphocytes in maternal blood in 1969, investigators have endeavored to develop genetics-based noninvasive prenatal diagnostics (NIPD) (1 ). A robust noninvasive approach would augment or potentially supplant amniocentesis and chorionic villus sampling, which, although gold standards, carry a risk of fetal loss. Despite considerable efforts, the use of fetal ce...

isolation of cell free fetal dna (cffdna) from maternal serum usually leads to very low concentrations of dna impeding further resolving through conventional methods of electrophoresis. although several protocols have been described for capillary electrophoresis (ce) of double stranded dna, they usually need using special polymers or coated capillaries which degrade over time. herein, we propos...

OBJECTIVE This study aimed to provide an individualized assessment of fetal trisomy 21 and trisomy 18 status for twin pregnancies by maternal plasma DNA sequencing. METHOD Massively parallel sequencing was performed on the plasma/serum DNA libraries of eight twin pregnancies and 11 singleton pregnancies. The apparent fractional fetal DNA concentrations between genomic regions were assessed to...

BACKGROUND Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, and 13. We sought to extend these analyses to examine subchromosomal copy num...

BACKGROUND The precise measurement of cell-free fetal DNA in maternal plasma facilitates noninvasive prenatal diagnosis of fetal chromosomal aneuploidies and other applications. We tested the hypothesis that microfluidics digital PCR, in which individual fetal-DNA molecules are counted, could enhance the precision of measuring circulating fetal DNA. METHODS We first determined whether microfl...

BACKGROUND Detection of fetal DNA in maternal plasma is achievable at 5 weeks of gestation, but few large-scale studies have reported circulating fetal and maternal DNA across all trimesters. METHODS Blood samples were collected from 201 women between 5 and 41 weeks of pregnancy. Quantitative PCR was used to assess total and fetal DNA concentrations, and allelic discrimination analysis was in...