objective: maternal-fetal rhd antigen incompatibility causes approximately 50% of clinically significant alloimmunization cases. the routine use of prophylactic anti-d immunoglobulin has dramatically reduced hemolytic disease of the fetus and newborn. recently, fetal rhd genotyping in rhd negative pregnant women has been suggested for appropriate use of anti-d immunoglobulin antenatal prophylax...

Cell-free fetal DNA (cffDNA) is available in the maternal circulation throughout pregnancy and can be used for noninvasive prenatal diagnosis including, determination of fetal sex, identification of specific single gene disorders, typing of fetal blood groups (RhD), paternity determination and potentially routine use for Down’s syndrome (DS) testing of all pregnancies. I searched published lite...

Recently published international guidelines recommend the clinical use of noninvasive prenatal test (NIPT) for aneuploidy screening only among pregnant women whose fetuses are deemed at high risk. The applicability of NIPT to aneuploidy screening among average risk pregnancies requires additional supportive evidence. A key determinant of the reliability of aneuploidy NIPT is the fetal DNA fract...

Although cell-free nucleic acids were first described in the 1940s (1 ), it was not until tumor-specific DNA sequences were detected in the plasma of cancer patients (2 ) that they started to attract the interest of the wider scientific community. Because the placenta shares numerous features with malignant tissues, such as a high rate of cell turnover and the expression of certain protooncogen...

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, ...

Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does...

The invasive procedures amniocentesis and chorionic villus sampling are routinely applied in pregnancies at risk for fetal genetic disorders and the results obtained are the gold standard for prenatal diagnosis. These procedures have an approximately 0.5-1% risk for fetal loss and are mainly used in cases at risk for fetal chromosomal abnormalities and single-gene disorders. Identification of c...

BACKGROUND Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis, particularly for the analysis of fetal genetic traits, which are absent from the maternal genome, e.g., RHD or Y-chromosome-specific sequences. To date, the analysis of other fetal genetic traits has been more problematic because of the overwhelming presence of ma...

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has opened up new possibilities for non-invasive prenatal diagnosis (NIPD). Real-time PCR protocols as well as MALDI-TOF mass spectrometry techniques have been developed to determine fetal RHD genotype on maternal plasma. In several European centers, NIPD for fetal RHD has become the standard of care for evaluation of anti-D allo-...