Quantitative fluorescent polymerase chain reaction (QFPCR) represents a rapid and reliable molecular ge­netic method for the detection of the most frequent aneuploidies of the chromosomes 13, 18, 21, X and Y in prenatal diagnosis that does not require long-term cultiva­tion of fetal cells necessary for classical cytogenetic anal­ysis. Its feasibility was confirmed on amniocytes from genetic amniocentesis [1-8], on chorionic villi samples (CVS) [9], on coelomic cells [10], on fetal cells from cer­vical/uterine lavages [11-13], and on fetal cells or fetal DNA in maternal blood [14]. This method is also feasible on single cell level in pre-implantation genetic diagnosis (PGD) [3,15,16].

Quantitative fluorescent PCR uses multiplex PC reac­tions of specific STRs from different regions of the studied chromosomes [17] and fluorochrome labeling of specific STR primers [18,19]. It is based on the pioneering works of von Eggeling et al. [20], Mansfield [21] and Mutter and Pomponio [22]. New, highly polymorphic micro­satellite markers provide the highest genetic informativity for the detection of heterochromosomal and autosomal aneuploidies [23-25]. Rahil et al.[26] recently introduced non polymorphic target genes on chromosomes 13, 18 and 21 for QFPCR aneuploidy detection, and Pont-Kingdon and Lyon (27) for allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci. Quantitative fluorescent PCR also assures exact diag­nosis of partial chromosome aneuploidies [28,29] in prena­tal diagnosis, as well as in solid tumors in children with the detection of loss of heterozygosity.

The amnio PCR minimizes parental anxiety by aneu­ploidy detection in genetic risk pregnancies with abnormal results of ultrasound and biochemical screening in the first and second trimesters [30-33] with a 99% reliability. Moreover, QFPCR provides easy and reliable detection of parental and meiotic origin of aneuploidies for genetic counseling, as well as for the study of the impact of ge­netic and exogenous factors on the pathogenesis of non-disjunction [1,34,35].The aim of our report is to summa­rize the implementation of QFPCR in prenatal and post­natal diagnosis of aneuploidies.