Validation of QF-PCR for prenatal diagnoses in a Brazilian population

• Autor(a) principal: de Moraes, Renata Wendel
• Data de Publicação: 2017
• Outros Autores: de Carvalho, Mario Henrique Burlacchini, de Amorim-Filho, Antonio Gomes, Francisco, Rossana Pulcineli Vieira, Romão, Renata Moscolini, Levi, José Eduardo, Zugaib, Marcelo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Clinics
• Texto Completo: https://www.revistas.usp.br/clinics/article/view/135262
• topic: Prenatal Diagnosis; Aneuploidy; QF-PCR; Brazilian Population

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.