An early prenatal diagnosis of a 69,XXY case using quantitative fluorescent PCR (QF-PCR) in uncultured amniocytes

Abstract

Quantitative fluorescent polymerase chain reaction (QF-PCR) has been largely employed for rapid detection of common aneuploidies in prenatal and postnatal diagnosis and consists in DNA amplification by PCR using fluorescent labelled primers and the analysis of chromosome specific small tandem repeats (STR). QF-PCR can rapidly and accurately diagnose sex chromosome status and imbalances, reducing maternal anxiety and aiding in efficient pregnancy management. In this study, an early diagnosis of a 69,XXY case was performed with QF-PCR technique from the uncultured amniocytes. Although, long-term cultures are more common techniques performed in prenatal cytogenetic diagnostic centers, QF-PCR is also an additional molecular reliable technique that enables early prenatal diagnosis. We conclude that, cytogenetic results are important for identifying structural chromosomal abnormalities.