Reacción en cadena de la polimerasa cuantitativa y cultivo largo: ¿el mejor método para el estudio citogenético de muestras de vellosidad corial?

Abstract

First trimester cytogenetic prenatal diagnosis is performed on chorionic villus biopsies. Two methods are used to obtain metaphases: the short-term or semi-direct culture (STC) and long term culture (LTC). The main advantage of STC is that there is no risk of maternal contamination, and of LTC that no false-negative findings are described in the literature. It is considered that the combination of the two techniques (STC and LTC) is the most effective diagnostic strategy for this type of study.The technique of quantitative fluorescent PCR (QF-PCR) allows the evaluation of aneuploidy most frequently involved in prenatal diagnosis in 24-48 hours in chorionic villus samples.The aim of this study is to evaluate the combination of QF-PCR and LTC as a substitute for classical STC and LTC for prenatal diagnosis in chorionic villus samples. We present our experience in 900 chorionic villus samples.