Fetal nucleated red blood cell counts in peripheral blood of mothers bearing Down syndrome fetus

Currently, prenatal detection of Down syndrome and other most common aneuploidies relies on invasive procedures such as amniocentesis and villocentesis, and on non-invasive screening tests such as second trimester maternal serum screening (Triple test), and first trimester screening (ULTRA-screen). However, it well known that invasive techniques carry a small risk of fetal loss, while both Triple test and ULTRA-screen are not diagnostic, may miss from 15-40% of cases of Down syndrome, in addition to having a 5-8% rate of false-positives. We now report clear evidence that the number of fetal nucleated red blood cells (FNRBCs) in the maternal circulation is remarkably higher in pregnant women carrying aneuploid fetuses, especially in cases of Down syndrome. These results are in agreement with the findings of other investigators using different methods, and suggest that the number of FNRBCs present in the maternal blood sample could be used as additional marker, in concert with existing screening tests, to improve non-invasive detection of Down syndrome, and other most common aneuploidies.