Validation of QF-PCR for prenatal diagnoses in a Brazilian population
Clinics
;
72(7): 400-404, July 2017. tab
Artículo
en Inglés
| LILACS
| ID: biblio-890711
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Diagnóstico Prenatal
/
Reacción en Cadena de la Polimerasa
/
Aneuploidia
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Embarazo
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Clinics
Asunto de la revista:
Medicina
Año:
2017
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade de São Paulo/BR
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