Advantages and limitations of QF-PCR analysis in invasive prenatal genetic diagnosis: a tertiary center experience from Turkey

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