Complex chromosomal rearrangements in couples affected by recurrent spontaneous abortion

ObjectiveTo determine the proportion of couples affected by recurrent spontaneous abortion in which one partner carries balanced translocations among three chromosomes.MethodsIn a retrospective study, G-banded chromosome complements were analyzed for couples affected by recurrent spontaneous abortion who were referred to Niigata University Hospital, Japan, between January 1, 1990, and December 31, 2011. The frequency of couples in whom one of the partners carried balanced translocations among three chromosomes was determined, and the clinical outcomes for affected couples who subsequently achieved term pregnancies were reviewed.ResultsOf 1415 couples with recurrent spontaneous abortion during the study period, there were two (0.1%) in which one of the partners (the woman in both cases) carried balanced translocations among three chromosomes. Both couples achieved a subsequent pregnancy that continued successfully and resulted in a phenotypically normal neonate.ConclusionThe frequency of balanced translocations among three chromosomes was estimated to be approximately 0.1% in a population affected by recurrent spontaneous abortion. With appropriate treatment based on careful examinations, affected couples can go on to achieve a successful pregnancy outcome.