Prevalence of primary infertility caused by chromosomal abnormalities and assessment of clinical manifestations in Rwandan patients

INTRODUCTION: Infertility affects millions of couples worldwide causing psycho-social problems and conflicts in families. Despite the establishment of multiple causes of infertility in both males and females, there have been no studies carried out in Rwanda about primary infertility caused by chromosomal abnormalities. Thus, the aim of this study is to determine the prevalence of primary infertility caused by chromosomal abnormalities and to assess the clinical manifestations in Rwandan patients.
METHODS: We performed a cross-sectional retrospective assessment of the data extracted from medical files and OpenClinic (an electronic data recording system) of patients transferred to one genetic lab in Huye that works with three main referral hospitals: Kigali University Teaching Hospital (CHUK), Huye University Teaching Hospital (CHUB) and Rwanda Military Hospital (RMH) from June 2009 to June 2019.
RESULTS: This study showed that the overall prevalence of primary infertility caused by chromosomal abnormalities was 25.4% (N=15/59) among the patients who consulted the genetic department. Females were more affected than males with 32% (N=8/25) of females being primarily infertile due to chromosomal abnormalities and 20.58% (N=7/34) of males respectively. Our study also found that the majority (66.1%) of infertile patients had a normal karyotype in both genders with 40.7% of the males (46, XY) and 25.4% of the females (46,XX).
CONCLUSION: Chromosomal abnormalities contribute significantly to primary infertility in the Rwandan population. Thus, clinicians should consider these chromosomal abnormalities in patients attending fertility clinics.