Chapter category: Reproductive Biology

Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies by Quantitative Fluorescent PCR

This chapter appears in the following book:

Cytogenetics in Reproductive Medicine

Edited by: Dagan Wells
ISBN: 1-58706-205-4
» Get more information about this book at landesbioscience.com «

Chapter authors:
Vincenzo Cirigliano and Matteo Adinolfi

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Prenatal diagnoses of chromosome abnormalities are performed by cytogenetic analyses of metaphase chromosomes obtained from fetal cells after several days of in vitro culture. The main disadvantage is that definitive results may take up to two weeks thus increasing parental anxiety or delaying eventual therapeutic interventions. This has prompted the use of different molecular techniques on uncultured cells to detect the most common chromosome aneuploidies in a few hours after sampling. In the last few years, rapid prenatal diagnoses of common aneuploidies have successfully be achieved by the Quantitative Fluorescent PCR amplification of Short Tandem Repeat markers. The assay was introduced as a preliminary to conventional cytogenetic analysis. However, recent studies, based on the analyses of several thousand samples, have shown that this rapid approach has a very high rate of success and could reduce the need of performing cytogenetic investigations. Its fully demonstrated efficiency, for example, allows early interruption of affected fetuses without the need of waiting for completion of fetal karyotype. The main advantages of the QF-PCR are its accuracy, speed, automation and low cost that allow very large number of samples to be investigated by few operators. Here we will analyse the results of using QF-PCR to test the largest series of consecutive clinical cases reported so far. The possibility that, following noninvasive ultrasound and biochemical tests, QF-PCR may replace conventional cytogenetics is also discussed.

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Chapter category: Reproductive Biology

Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies by Quantitative Fluorescent PCR

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