Clinics (Sao Paulo). 2017 July; 72(7): 400-404.

Copyright © 2017 CLINICS

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

Renata Wendel de Moraes I , Mario Henrique Burlacchini de Carvalho I * , Antonio Gomes de Amorim-Filho I , Rossana Pulcineli Vieira Francisco I , Renata Moscolini Romão I , José Eduardo Levi II , Marcelo Zugaib I

Departamento de Ginecologia e Obstetricia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, BR

Fundação Pró-Sangue, Hemocentro de São Paulo, SP, BR

*Corresponding author. E-mail:

received November 24, 2016; revised January 10, 2017; accepted February 14, 2017.



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.


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.


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.


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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