[New non-invasive technique for prenatal diagnosis: analysis of maternal blood]

The presence of free fetal DNA circulating in the maternal plasma or serum has been demonstrated by Lo et al. in 1997. In 2002, fetal DNA has been used as a tool for prenatal diagnosis. The main indications for this technique are currently limited to determination of fetal sex for X-linked diseases as well as determination of fetal RhD in RhD negative women. Other more exceptional applications are also possible, including detection of translocations or search for de novo point mutations but currently remain in the research phase.