Validation of the QF-PCR test in the Brazilian population

Quantitative fluorescent polymerase chain reaction (QF-PCR) is a molecular diagnostic method based on the amplification of small repetitive genome sequences. This method can be used to detect aneuploidies during prenatal screening, but in Brazil it is not yet used in public institutions. The aim of this study was to evaluate the effectiveness of QF-PCR compared to cytogenetics in detecting aneuploidies. 162 amniotic fluid samples from pregnant women at increased fetal risk of aneuploidy were evaluated. The samples were collected at the Obstetrics Outpatient Clinic of the Hospital das Clínicas of the Faculty of Medicine of the University of São Paulo. Fetal DNA for QF-PCR analysis was extracted from amniotic fluid and 24 fluorescent molecular markers were used to amplify genes present on chromosomes 13, 18, 21, X and Y. The agreement between the results obtained by cytogenetics and QF-PCR was 93.2% (151/162), with a total sensitivity of 90% and specificity of 97.2%.