Jornal de Proteômica e Bioinformática
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Abstrato

Detection of Numerical Aneuploidy of Chromosomes X, Y, 13, 18 and 21 in 100 Blood and Fetals Samples by QF-PCR Method

Sirous Zeinali, Zahra Kharazi Tavakol, Soodeh Kianfar, Ariana Kariminejad, Nejat Mahdieh, Mehrdad Hashemi and Zahra Zeinali

Objective: Determination of parents to avoid giving birth to a child with any anomalies has increased the demand for prenatal diagnosis. Two most important criteria of any prenatal diagnosis procedure are accuracy, and speed. They have to minimize burden and anxiety for families. One of the main tests requested during pregnancies is testing for chromosomal abnormalities. This study was carried out with the aim of investigating the use of a rapid diagnosis test for detecting chromosomal numerical aneuploidy in blood and fetal samples, and also to compare the outcomes with cytogenetic method. Materials and methods: In this study, 100 samples from high risk pregnancies or affected individuals, comprising 12 chorionic villi (CV), 43 amniotic fluids (AF) and 45 blood samples were analyzed by QF-PCR. The samples were amplified using the specific microsatellite markers (STRs) for chromosomes X, Y, 13, 18 and 21. The sample analysis was performed based on the peak type of the PCR products, and the results were compared with the cytogenetic findings. Results: In total 26 samples were normal and 74 were diagnosed as aneuploids. Eight sex chromosome aberrations (three 45, X; three 47, XXY; one 47, XXX and one 46, XY (female phenotype), 65 numerical aberrations of X, Y, 13, 18 and 21 chromosomes and one triploidy were recognized. The QF-PCR data were compared with the karyotype results and showed complete concordance. Conclusion: This study showed that QF-PCR method is definitely superior, due to its advantages and few drawbacks in diagnosis of numerical chromosomal aberrations. Low costs and high speed of analysis as well as its automaticity are among the most important advantages of this method. Considering more than 99.4% accuracy of the QF-PCR method (compared with cytogenetics) and the time required to do cytogenetic analysis, QF-PCR is the method of choice for aneuploidy testing.