Our Innovation: A new non-invasive Prenatal Diagnosis

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 invasive procedure has technical difficulties and a risk of procedure-induced miscarriages that can be as high as 1/500. It is not a surprise that non-invasive procedures for the prenatal diagnosis of specific genetic abnormalities with serious consequences on the health of the newborn has been considered for a long time the “holy grail”. Nevertheless, the identification and isolation of single fetal cells in maternal blood has been very 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 novel technologies, Menarini Biomarkers Singapore (MBS) has developed several new methods which combine the enrichment of circulating fetal cells from maternal blood using proprietaries ferro-fluid technologies (Cell Search® system) and unique cell sorting capabilities. The successful isolation of fetal cells from maternal blood by MBS provides a source of optimal fetal DNA obtained non‐invasively. The established workflow may replace invasive procedure and potentially becoming a new diagnostic tool for the detection of autosomes and sex chromosome aneuploidies. To validate the proof of concept, a robust protocol to recover fetal trophoblasts from maternal blood is now undergoing multicenter clinical validation.

This unique innovative platform is opening the way to a new chapter in prenatal research diagnosis and prenatal clinical studies.