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

Authors

  • Renata Wendel de Moraes Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia
  • Mario Henrique Burlacchini de Carvalho Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia
  • Antonio Gomes de Amorim-Filho Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia
  • Rossana Pulcineli Vieira Francisco Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia
  • Renata Moscolini Romão Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia
  • José Eduardo Levi Fundação Pró-Sangue Hemocentro de São Paulo
  • Marcelo Zugaib Universidade de São Paulo; Faculdade de Medicina FMUSP; Departamento de Ginecologia e Obstetrícia

DOI:

https://doi.org/10.6061/clinics/2017(07)02

Keywords:

Prenatal Diagnosis, Aneuploidy, QF-PCR, Brazilian Population

Abstract

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.

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Published

2017-07-01

Issue

Section

Clinical Sciences

How to Cite

Validation of QF-PCR for prenatal diagnoses in a Brazilian population. (2017). Clinics, 72(7), 400-404. https://doi.org/10.6061/clinics/2017(07)02