n South African Journal of Obstetrics and Gynaecology - Live birth from a patient with a three-way balanced translocation t(5;8;12) : case report




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).

Array comparative genomic hybridisation (array-CGH) was used to screen embryos for chromosome imbalances.
Embryo biopsy, preimplantation genetic diagnosis using a 24sure+ kit to detect translocations in embryos.
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.
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.


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