Turkish Journal of Medical Sciences




Aim: To investigate the efficacy of quantitative fluorescent-polymerase chain reaction (QF-PCR) in the diagnosis of aneuploidy. Materials and methods: The study included 40 pregnant women considered to be at high risk, based on positive trisomy 21 screening results, that underwent amniocentesis for karyotyping to detect chromosomal anomalies. In amniotic fluid aneuploidy detection was carried out by both standard karyotyping and the QF-PCR method, and the results obtained with both methods were compared. In order to determine the efficacy of QF-PCR, its sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. Results: Of the 40 patients’ results obtained with the 2 methods, 32 were similar. In 31 of these 32 cases, chromosome analysis interpreted as normal by QF-PCR was also established to be normal by standard karyotype analysis and 1 case evaluated as trisomy by QF-PCR was also determined to be trisomy 21 by standard karyotype analysis. In 6 cases, however, results were evaluated as chromosomal abnormality by QF-PCR, whereas standard analysis found them to be normal. The efficacy indices of QF-PCR were as follows: sensitivity 50%, specificity 83.7%, PPV 14.3%, and NPV 96.9%. Conclusion: Until the efficacy of QF-PCR increases, along with the sophistication of the technique, conventional karyotype analysis will remain the gold standard.


Aneuploidy, QF-PCR conventional karyotype analysis

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