Rapid Prenatal Diagnosis of Chromosomal Aneuploidies Using Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR)

Abstract

Nooshin Masoudzadeh and Shahram Teimourian

Introduction: Prenatal diagnosis plays an important role in determining the health of fetus, which is why rapid diagnostic tests are so important. One of these quick diagnostic tests is quantitative fluorescent-polymerase chain (QF- PCR) technique. This technique employed to detect chromosomal aneuploidies (13, 18, 21, X and Y). In this method, there is no need for cell culturing. QF- PCR is rapid, suitable for automation, low cost and faster turnaround time.

Material and Methods: In this study, 260 patients were studied, and analyzed by 26 short tandem repeat (STR) markers for detection of chromosomal abnormalities. The QF-PCR assay was performed by Devyser kit (Sweden). First DNA was extracted, and then PCR was performed, PCR products were run on capillary electrophoresis system, and finally analyzed by the Genemarker Software.

Results: The results of QF-PCR were as follows: trisomy 21 (6 cases), 18 (3 cases), triploidy (1 case), klinefelter syndrome (1 case), without suspicion of any mosaicism.

Conclusion: Prenatal diagnostic outcomes give early results, thus reducing parental anxiety and increasing clinical management of a high risk pregnancy

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