Prenatal detection of fetal aneuploidies is one of the main goals of the 
prenatal diagnostic approach. As a benefit of the development of advanced 
ultrasound equipment and advances in molecular biology in the last decade, there 
is a significant progress in screening methods for fetal aneuploidies, although 
invasive methods remain the gold standard for aneuploidy detection. Non-invasive 
prenatal diagnosis has substantial medical impact as it targets the development 
of safer and more effective methods to avoid the risk of fetal loss associated 
with currently used invasive methods. Identification of fetal-specific messenger 
ribonucleic acids, digital polymerase chain reaction and next-generation 
sequencing give the real chance for non-invasive prenatal diagnosis of fetal 
aneuploidies. Although all these methods have both advantages and limitations, 
some of them are moving closer to clinical implementation. In this review the 
authors highlight the most recent advances in methods for non-invasive prenatal 
diagnosis of aneuploidies.