The possibility to isolate intact circulating fetal cells from pregnant women for direct analysis of fetal chromosomes and unfragmented DNA offers an exciting alternative to the conventional invasive procedures, like chorionic villus sampling or amniocentesis that are still required for prenatal diagnosis.

The identification and isolation of fetal cells in maternal blood remains challenging, given both the paucity of known surface antigens, exclusively expressed on fetal cells, and the rarity of the circulating fetal cells in maternal circulation.

Using the Menarini AutoPrep enrichment technologies we have developed a new method which combine the enrichment of circulating fetal cells from maternal blood with unique automated sorting capabilities.

To validate the proof of concept, a robust protocol to recover fetal throphoblasts from 20 ml of maternal blood has been developed. The first clinical validation of the procedure with the enrollment of 372 high risk pregnant women has been completed and the data have been presented at the ISUOG, COGEN, and ISPD International Congresses in 2021.