Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion

Abstract

Background Recurrent spontaneous abortion (RSA) is a common challenging reproductive problem, whereas the frequency of chromosomal abnormalities among couples with RSA varies from 2 to 8%. Chromosomal heteromorphisms that have been considered as normal variants are suspected to have a clinical effect in the form of infertility or RSA. Objective The objective of this research is to study the role and incidence of different types of chromosomal findings including chromosomal aberrations and chromosomal heteromorphisms among couples with RSA. The results can add to genetic counseling as well as can serve as a step for collecting national data concerning this issue. Patients and methods A total of 73 couples, comprising 146 cases with a history of RSA, have been enrolled in the study. All cases were subjected to full history taking, conventional cytogenetic analysis in addition to fluorescence in-situ hybridization technique whenever required. Results Among the studied cases (n = 146), 6.8% showed chromosomal abnormality. They were categorized into three (30%) cases with reciprocal translocation, four (40%) cases with Robertsonian translocation, two (20%) cases showed mosaic aneuploidy, and one (10%) case was chimera. Regarding chromosomal heteromorphisms, nine (6.16%) cases have been detected; the most frequent finding was pericentric inversion in chromosome 9 (inv (9)(p12q13)). Conclusion Before endeavoring any therapeutic intervention, couples who experience two or more abortions of unknown etiology should undergo a cytogenetic analysis, as RSA might be a rescuer mechanism to avoid distressing outcomes. Chromosomal heteromorphisms could be a contributing factor for RSA. Genetic counselors should pay attention to this issue until a conclusive mechanism can be verified.