A large-scale validation for QF-PCR aneuploidy testing in Korean

Abstract

The quantitative fluorescent PCR (QF-PCR) assay for prenatal diagnosis of common chromosome aneuploidies introduced during the last few years. We report the first assessment of QF-PCR aneuploidy testing performed on a large Korean population. Blind prospective study was performed in 3700 amniotic fluid samples. All samples were analyzed by QF-PCR using with four STR markers located on chromosome 21 (D21S1435/D21S11/D21S1411/ D21S1412) and subsequently performed by conventional cytogenetic analysis. Trisomy 21 was identified in 35 samples. The informative rate for at least two STR markers was 97.3%. The uninformative rate by maternal cell contamination (MCC) and inconclusive results were 0.8%, 1.9% respectively. Rare polymorphic STR duplication and somatic microsatellite mutation were detected respectively. There were no false-positive or false-negative results. QF-PCR for the rapid identification of fetus with trisomy 21 is a reliable, accurate, and speedy technique.