RAPID DETECTION OF ANEUPLOIDIES BY MICROSATELLITE AND THE QUANTITATIVE FLUORESCENT POLYMERASE CHAIN-REACTION

Several studies have been performed to assess the diagnostic value of using small tandem repeat (STR) markers and quantitative fluorescent p olymerase chain reaction (QF-PCR) assays for the rapid detection of an euploidies involving chromosomes 21, 18, 13 (Mansfield, 1993; Pertl et al, 1994, 1996; Adinolfi et al., 1995a). The results of these investi gations have documented the diagnostic advantages of this approach to perform prenatal tests using amniotic and chorionic samples, or fetal nucleated, cells retrieved from peripheral maternal blood or endocervi cal samples. The use of two or more STR markers for each autosome faci litates the diagnosis of aneuploidies, while avoiding the need to empl oy internal non-polymorphic markers. Multiplex quantitative fluorescen t analyses can be performed in about six hours from the collection of the samples and, although targeted to specific abnormalities, they can exclude the presence of the most frequent chromosomal disorders. QF-P CR can be exploited to analyse DNA present in single or clumps of cell s and thus to perform prenatal diagnoses on maternal peripheral blood or transcervical cell samples and on preimplantation embryos. (C) 1997 by John Wiley & Sons, Ltd.