[Genetic analysis of the fetus using maternal blood]

Circulating fetal DNA in maternal plasma and serum was first demonstrated by Lo et al. in 1997 and has become a useful tool for prenatal diagnosis less than five years later. There is more and more evidence that the trophoblastic cells act as the major source of this circulating fetal DNA. Contrary to fetal cells analysis in maternal blood which requires isolation and enrichment procedures, fetal DNA analysis is relatively easy to perform with the use of real-time PCR. Non-invasive fetal sex and fetal RHD genotype determination are, to date, the two main clinical indications. Those newly offered possibilities have changed the management of pregnant women who are carriers for X-linked genetic disorders; prenatal diagnosis by choriovillous sampling could only be performed for male fetuses avoiding an unnecessary risk of fetal loss for female fetuses. Moreover, fetal RHD genotyping by maternal blood analysis could be useful in RhD-negative women at risk of immunization in order to adapt prophylactic anti-D injection.