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...

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...

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...

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-...

The kinetics and structure of cell-free fetal DNA in maternal plasma is currently under investigation. Plasma fetal DNA seems quite stable albeit cleared rapidly following birth, suggesting continuous fetal DNA release into the maternal circulation during pregnancy. However, to understand better the kinetics of circulating DNA, studies to determine the biological (structural) form in which feta...

Embryo DNA fingerprinting represents an important tool for tracking embryo-specific outcomes after multiple embryo transfer during IVF. The situation in which two embryos are transferred and only one implants represents a unique opportunity for the most well-controlled validation of markers capable of identifying competent and incompetent embryos. Specifically, this design eliminates all patien...