Rapid diagnosis of common aneuploidies by quantitative fluorescent polymerase chain reaction.

Abstract

The most frequent autosomal aneuploidies in newborns involve chromosomes 21, 18, and 13. The pre- and postnatal detection of chromosome abnormalities has been almost exclusively performed by cytogenetic analysis. In this paper, we assess the diagnostic value of fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STR). PCR products are distinguished via both size and fluorescence intensity to confirm the trisomy by either triallelic signals with similar fluorescence intensities or diallelic pattern with double-dose response. Compared with the relatively time-consuming and laborious classic cytogenetic analysis, this technique is rapid, inexpensive, and sensitive for the detection of trisomies 21, 18 and 13, particularly when the numbers of cells obtained from the prenatal diagnosis is limited or where cell culture fails. With greater samples tested and more STR markers available, this method will become more reliable. This study investigates the detection of aneuploides involving chromosomes 21, 18, and 13 by comparing quantitative fluorescent PCR with karyotyping performed by conventional cytogenetics. The results obtained by the two techniques were concordant in all trisomy cases of this study.