Use of free fetal DNA from maternal blood in screening for aneuploidies: advantages and limitations

Abstract

Prenatal diagnosis includes an array of diagnostic procedures performed to identify the existence of a disease or pathologic condition in the fetus. The methods employed in prenatal diagnosis are divided into invasive and noninvasive ones. Detection of free fetal DNA in maternal circulation in 1997 made noninvasive prenatal diagnosis one of the most dynamic fi elds of research in medicine. Analysis of free fetal DNA from maternal blood for detection of fetal rhesus D antigen status and fetal sex has become a widely used diagnostic method in European clinical laboratories. Unlike those mentioned above, noninvasive prenatal fetal testing for aneuploidies is still considered as a screening method rather than a diagnostic test. Like any other laboratory technique, it also has some advantages and limitations. As it is prenatal diagnosis, it is of utmost importance for both medical professionals and parents to understand the possibilities of these tests and areas of their application. In the near future, fast technological advances will certainly enable noninvasive detection of fetal sub-microscopic aneuploidies, monogenic disorders or even the analysis of the whole fetal genome. Prior to introducing analysis of free fetal DNA in daily routine, some ethical issues such as autonomy and rights of the unborn fetus, availability of testing and the possibility of sex selection for non-medical reasons should be properly regulated.