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Clinics

Print version ISSN 1807-5932On-line version ISSN 1980-5322

Abstract

DE MORAES, Renata Wendel et al. Validation of QF-PCR for prenatal diagnoses in a Brazilian population. Clinics [online]. 2017, vol.72, n.7, pp.400-404. ISSN 1807-5932.  http://dx.doi.org/10.6061/clinics/2017(07)02.

OBJECTIVES:

Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory.

METHOD:

A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes.

RESULTS:

A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples.

CONCLUSION:

QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.

Keywords : Prenatal Diagnosis; Aneuploidy; QF-PCR; Brazilian Population.

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