Akademik Veri Yönetim Sistemi
Perinatal Journal, cilt.30, sa.3, ss.257-265, 2022 (Scopus)
Objective: The aim of this study was to investigate the success and reliability of QF-PCR analysis in detecting chromosomal abnormalities and
to determine its advantages and limitations.
Methods: Patients who underwent karyotype and QF-PCR analysis as a prenatal invasive diagnostic test in a tertiary center were retrospectively
analyzed. Invasive genetic test indications, ultrasonographic fetal screening reports, karyotype and QF-PCR analysis results of the patients were
obtained from the electronic data system. Karyotypes were classified as normal, common aneuploidies (trisomies 21, 18, 13, and sex chromosome
aneuploidies) and other aneuploidies. QF-PCR analysis and karyotype results were compared for inconsistency.
Results: A total of 426 cases (41 [9.6%] chorionic villus sampling, 339 [79.6%] amniocentesis and 46 [10.8%] cordocentesis) were included in
the study. The most common indication for prenatal invasive diagnostic testing was fetal structural anomalies (36.7%). Aneuploidy was detected
in 61 (14.3%) of the fetuses. Fifty-nine (96.7%) of 61 fetuses with aneuploidy were common aneuploidies. The sensitivity and specificity of
the QF-PCR analysis in detecting common aneuploidies was 100%. QF-PCR analysis was indicative if not diagnostic in all fetuses with mosaic
trisomy or sex chromosome aneuploidies.
Conclusion: QF-PCR analysis is a rapid, robust, and reliable test for the prenatal detection of common aneuploidies. Although QF-PCR
analysis has high sensitivity and specificity in detecting common aneuploidies, it should be used for rapid preliminary information and the
result of karyotype analysis should be awaited for important clinical decisions.