Investigation of QF-PCR application for rapid prenatal diagnosis of chromosomal aneuploidies in Iranian population

ABSTRACT

G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction [QF-PCR] has been widely used for this purpose. Heterozygosity of short tandem repeat [STR] markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Most of the analyzed STRs had acceptable heterozygosity [66.3-94.7] to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods [standard karyotype and QF-PCR] for all samples were in accordance with each other. In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians