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Validation of QF-PCR for prenatal diagnoses in a Brazilian population
Renata Wendel de Moraes1, Mario Henrique Burlacchini de Carvalho1, Antonio Gomes de Amorim-Filho1
1Departamento de Ginecologia e Obstetrícia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR.
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.
