The establishment of non-invasive markers for prenatal diagnosis is an important research goal. Current invasive procedures have a significant risk of induced abortion (1-2%) or maternal injury and considerable discomfort and psychological distress. Currently around 5% of pregnant women in the developed world undergo invasive prenatal diagnosis procedures, mainly due to an increased risk for foetal chromosome abnormalities . In populations with a high penetrance of an inherited genetic disorder, such as the hemoglobinopathies, cystic fibrosis or Tay Sachs syndrome, it may be advantageous to determine the genotype early in life (neonates), as this will alert individuals, who are found to be carriers of the risk of having an affected child. The transplacental passage of foetal cells into the maternal circulation is now well established, and a number of studies have been undertaken in order to isolate these rare foetal cells for prenatal diagnostic purposes. In spite of the technical problems imposed by the scarcity of these foetal cells (1/105 - 1/107), substantial progress has been made by individual research groups in Europe.
As these results are all based on small scale independent studies, there is now an urgent need to integrate these fragmented and diverse activities into a coherent strategy for non-invasive prenatal diagnosis. The recent discovery of relatively abundant quantities of cell free DNA in maternal plasma and serum has opened a new avenue for the prenatal diagnosis of the latter group of genetic disorders as well as the determination of the foetal RhD genotype in pregnancies at risk for HDN (haemolytic disease of the foetus and newborn). In addition elevations in the concentration of the new found molecular analyte may be indicative of pregnancies bearing an aneuploid foetus or those at risk for pregnancy related disorders such as preterm labour or preeclampsia. This opens the possibility for new screening tools.
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