Validation of QF-PCR in a Korean population

Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening common aneuploidies, but it is not an accustomed way of testing in Korea. Our objectives were to investigate QF-PCR as a means for prenatal aneuploidy screening and to evaluate the short tandem repeat (STR) markers in a Korean population.

Three formats of QF-PCR assays that utilize an Elucigene kit (Tepnel Diagnostics), which contains 7 primer pairs located on chromosome 21, 16 primers on chromosomes 21, 18, and 13, or 26 primers on chromosomes 21, 18, 13, X, and Y were performed.

Eight hundred of prenatal samples were screened and the results were compared to that of the results obtained with conventional cytogenetics. The 31 of 33 (93%) autosomal and sex chromosome aneuploidies were detected excluding one case of maternal cell contamination and one case of mosaicism respectively; there were no false positives. Interestingly, submicroscopic duplication of the D13S634 marker was observed in 1.6% of cases.

For prenatal aneuploidy screening, QF-PCR was proved to be efficient and reliable. However, considering the high frequency of triallelic patterns of one STR marker that has not been found in other populations, careful evaluation is recommended in each STR marker when it is applied to different populations.