Reproductive (epi) genetics

摘要: What is known already: Fluorescent in situ hybridisation has historically been the method of choice for detecting aneuploid embryos when performing PGD for chromosome rearrangements. However, this only analysed the chromosomes involved in the rearrangement, and didn’t detected additional aneuploidy. Our PGD program has always reported a lower pregnancy rates in couples seeking PGD for chromosome rearrangements than PGD for single gene disorders, either due to the limited accuracy of FISH or a higher aneuploidy risk in these patients.Study design, size, duration: Retrospective analysis of chromosome rearrangement PGD cycles. Cycles from 2010-2013 were performed using aCGH, earlier cycles were performed via FISH. As well as looking at traditional outcome measures of pregnancy rate, livebirth and miscarriage rates, we compared the ratio balanced: unbalanced embryos for both techniques …