Current view of the application of non-invasive prenatal testing of cell-free circulating fetal DNA from maternal blood

Abstract

of chorionic villi or amniocentesis, depending on the week of pregnancy. ( 1 ) The discovery of freely circulating fragments of fetal DNA (cell-free fetal DNA - cffDNA) in 1997 in the bloodstream of a pregnant woman enabled the development of new non-invasive prenatal screening tests. With their research, which was based on the use of polymerase chain reaction (PCR), Denis Lo and his colleagues determined the male gender of the fetus by multiplying the marker on the Y chromosome. ( 2 ) The method was improved through further research, which increased the sensitivity of detecting freely circulating fetal DNA for the most common aneuploidies. It is necessary for the staff providing the service to be educated in order to explain the advantages and disadvantages of the method itself, as well as the test results, in the simplest and most comprehensible way to parents.