Live birth from a patient with a three-way balanced translocation t(5;8;12)

Abstract

Background. Three-way balanced translocations are unusual and can lead to infertility as well as abnormal embryos. In this case report, we describe a couple who experienced repeated miscarriages as a result of the male partner being a carrier of a three-way translocation t(5;8;12). Objectives. Array comparative genomic hybridisation (array-CGH) was used to screen embryos for chromosome imbalances. Methods. Embryo biopsy, preimplantation genetic diagnosis using a 24sure+ kit to detect translocations in embryos. Results. Of 10 embryos tested, 2 were found to have an unbalanced translocation, 4 were aneuploid, 2 failed to amplify and 2 were euploid. Transfer of the two euploid embryos resulted in a singleton pregnancy and subsequent birth of a baby. Conclusion. Array-CGH in conjunction with a 24sure+ kit should be used as a routine screening method for embryos of balanced translocation carriers, as it can decrease the time to pregnancy and prevent repeated miscarriages.