Case reports

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

Anil Ramdeo, Kinnon Naidoo, Teresa Ernest, Katarzyna Pluta

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 that experienced repeated miscarriages due to the male partner being a carrier of a three-way translocation t(5, 8, 12) .

 

Objectives: Array comparative genomic hybridization (array-CGH) was used to screen embryos for chromosome imbalances.

 

Methods: Embryo biopsy, preimplantation genetics diagnosis (PGD) using 24Sure+ kit to detect translocations in embryos.

 

Results: Out of 10 embryos tested, 2 were found to be unbalanced translocation carriers, 4 were aneuploid, 2 failed to amplify and 2 were euploid. Transfer of 2 euploid embryos resulted in a singleton pregnancy and subsequently a birth of a baby.

 

Conclusion: Array-CGH in conjunction with 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.


Authors' affiliations

Anil Ramdeo, C.A.R.E. Clinic (Centre for Assisted Reproduction and Endocrinology), Westville, Durban, South Africa

Kinnon Naidoo, C.A.R.E. Clinic (Centre for Assisted Reproduction and Endocrinology), Westville, Durban, South Africa

Teresa Ernest, C.A.R.E. Clinic (Centre for Assisted Reproduction and Endocrinology), Westville, Durban, South Africa

Katarzyna Pluta, C.A.R.E. Clinic (Centre for Assisted Reproduction and Endocrinology), Westville, Durban, South Africa

Full Text

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Keywords

Three-way translocation, preimplantation genetic diagnosis, array comparative genomic hybridization, chromosome rearrangements

Cite this article

South African Journal of Obstetrics and Gynaecology 2015;21(1):18-20. DOI:10.7196/sajog.922

Article History

Date submitted: 2014-08-19
Date published: 2015-05-21

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