Diagnosticul prenatal al anomaliilor cromozomiale prin reacţia cantitativă de polimerizare în lanţ cu fluorescenţă în România – un raport pe cinci ani al unui nou institut

Abstract

Objective. The results of the prenatal diagnosis of chro­mo­so­mal anomalies performed during a five-year period are presented and analyzed, in order to determine the frequency of fetal aneuploidies. Methodology. We used quantitative fluorescence polymerase chain reaction (QF-PCR) for tes­ting the fetal DNA, and we calculated the percentage of each chromosomal anomaly. Results. The most frequent ano­ma­lies found were trisomies 21 and 18. We discuss the problems that might cause discrepancies between the results obtained with QF-PCR and other techniques. Conclusions. This study underlines the utility of the QF-PCR ana­ly­sis for the prenatal diagnosis of aneuploidies and the im­por­tance of karyotype that remains the best solution for the final decision regarding the pregnancy, especially when there were detected echographic anomalies.