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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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
Total Authors: 7
Document type: Journal article
Source: Clinics; v. 72, n. 7, p. 400-404, JUL 2017.
Web of Science Citations: 4
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. (AU)

FAPESP's process: 12/51806-2 - Implementation and Validation of QF-PCR test for detection of aneuploidies in the clinic of Obstetrics and Gynecology - HC - FMUSP
Grantee:Mario Henrique Burlacchini de Carvalho
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)