Prediction of a balanced rearrangement by preimplantation genetic screening (PGS)

Abstract

While there are various testing methodologies that are best suited in cases of known parental rearrangements, tNGS offers enhanced identification of balanced rearrangement carriers compared to previous testing methodologies. Further, it provides an additional opportunity for diagnosis in patients that may be missed in the clinical setting. References: 1. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.