Description of cytogenetic abnormalities and the pregnancy outcomes of couples with recurrent pregnancy loss in a tertiary-care center in Saudi Arabia

Objectives: To determine the prevalence of chromosomal abnormalities in couples with recurrent pregnancy loss (RPL), to determine other factors that may be associated with the chromosomal abnormalities, and to assess the outcomes of couples who had undergone multidisciplinary interventions according to associated etiological factors.

Methods: This retrospective cohort study involved 1074 couples who attended RPL clinic during an 11-year period from January 2006 to December 2016 at a single center, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. All of the couples had undergone complete RPL evaluations and were closely monitored and managed during pregnancy.

Results: Out of the 1074 couples, 77 (7.2%) carried some form of chromosomal abnormality, and the female (48, 62.3%) patients were affected more frequently than the male (29, 37.3%) patients. Out of the 77 cases with chromosomal abnormalities, 46.8% had reciprocal translocations, 10.3% had Robertsonian translocations, and 3.9% had complex structural abnormalities. Inversions had occurred in 14.3% and chromosomal additions had occurred in 2.6% of the patients. Isolated chromosomal abnormalities were detected in 25 out of 77 (32.5%) couples. The couples were closely followed, and 67% of the subsequent pregnancies resulted in live births.

Conclusion: This study’s findings provide an insight into the prevalence of chromosomal abnormalities in couples with RPL in our region and the factors that may be associated with RPL. This information will help to ensure the required resources are provided to care for these patients.