Segmental aneuploidies in PGD cycles for single gene conditions by karyomapping

Abstract

Introduction: The present era of PGD for single gene defects is associated with karyomapping – a genome-wide and robust array technology. It enables to evaluate both single gene conditions, and structural imbalanced anomalies as well as to perform an integrated aneuploidy screening enabling detection of maternal or paternal origin of aneuploidy in one test along with the single gene conditions. Over and above all the advantages Karyomapping helps us to understand the origin and character of early embryo aneuploidies included the segmental (sub-chromosomal) ones. The authors focused their attention to the segmental aneuploidies frequency in embryos in PGD cycles in couples with single gene conditions and a potential role of paternal age.