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

Autor(es)

de Moraes, Renata Wendel ; Burlacchini de Carvalho, Mario Henrique ; de Amorim-Filho, Antonio Gomes ; Vieira Francisco, Rossana Pulcineli ; Romao, Renata Moscolini ; Levi, Jose Eduardo ; Zugaib, Marcelo

• Tipo de documento: Artigo Científico
• Fonte: Clinics; v. 72, n. 7, p. 400-404, JUL 2017.
• Citações Web of Science: 4

Resumo

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. (AU)

• Processo FAPESP: 12/51806-2 - Implantação e validação de teste QF-PCR para detecção de aneuploidias no ambulatoria de obstetrícia e ginecologia HC FMUSP
• Beneficiário: Mario Henrique Burlacchini de Carvalho
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS