The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative.

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Presentation transcript:

The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative genomic hybridization Harita Ghevaria, Sioban SenGupta, Natalia Shmitova, Paul Serhal, Joy Delhanty Reproductive BioMedicine Online Volume 32, Issue 2, Pages 178-189 (February 2016) DOI: 10.1016/j.rbmo.2015.11.017 Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Classification of embryos after follow up of diagnostic aneuploid events occurring in addition to any translocation related imbalances. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Summary of data obtained after follow up by fluorescence in-situ hybridization of 63 untransferred embryos from translocation carriers with additional aneuploidies. MND, mitotic non-disjunction. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Summary of data obtained after array comparative genomic hybridization follow up of 20 untransferred embryos from translocation carriers with additional aneuploidies. MND, mitotic non-disjunction. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 4 Array comparative genomic hybridization follow up result of an embryo from a balanced carrier of a reciprocal translocation 46,XY, t(4;12)(q25;q24.31). The blue arrows indicate imbalances related to the translocation. The red arrow indicates additional aneuploidy, unrelated to the translocation; (A) diagnostic result using 24Sure+ (BAC) array: gain of 4pter-4q25; loss of 12pter-12q24.31; loss of 22 (two cleavage blastomeres); (B) follow up result using 8x60K (oligo) array: gain of 4pter-4q25; loss of 12pter-12q24.31; loss of 22 (rest of the embryo). The loss of 22 is a whole chromosome loss classed as meiotic as it was present on diagnosis and was detected in the rest of the embryo on follow up. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 5 Array comparative genomic hybridization follow up result of an embryo from a balanced carrier of a reciprocal translocation 46,XY,t(1;13)(p34.3;q34). (A) Diagnostic result using 24Sure+ BAC arrays: Balanced for the translocation chromosomes; loss of 21 (two cleavage stage blastomeres); (B) follow-up result using 24Sure arrays: Balanced for the translocation chromosomes; loss of 21 (rest of the embryo). The loss of 21 is a whole chromosome meiotic loss as it was present on diagnosis and in the rest of the embryo on follow-up. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 6 Analysis of chromosomes involved in meiotic compared with mitotic aneuploidy events. Reproductive BioMedicine Online 2016 32, 178-189DOI: (10.1016/j.rbmo.2015.11.017) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions