Complex chromosomal rearrangements in couples affected by recurrent spontaneous abortion

Int J Gynaecol Obstet. 2015 Jan;128(1):36-9. doi: 10.1016/j.ijgo.2014.07.018. Epub 2014 Aug 16.

Abstract

Objective: To determine the proportion of couples affected by recurrent spontaneous abortion in which one partner carries balanced translocations among three chromosomes.

Methods: In 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.

Results: Of 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.

Conclusion: The 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.

Keywords: Balanced translocation; Complex chromosomal rearrangements; Recurrent abortion; Successful pregnancy; Three chromosomes.

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 4
  • Chromosomes, Human, Pair 8
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Live Birth
  • Male
  • Pregnancy
  • Retrospective Studies
  • Translocation, Genetic / genetics*