The prenatal diagnosis of chromosomal anomalies by quantitative fluorescence polymerase chain reaction in Romania – a five-year report from a new institute

L. Frenţescu, O. Chakirou, T. Kovacs F. Stamatian

Rezumat: 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.
Cuvinte cheie: prenatal diagnosis, QF-PCR.