The efficacy of quantitative fluorescent-polymerase chain reaction (QF-PCR) in the diagnosis of prenatal aneuploidy.

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.