DOI: 10.36347/sajb.2021.v09i01.001

Pages: 1-9

Chromosomal aberrations either structural or numerical can contribute to infertility affecting 10-15% of couples of reproductive age. Chromosomal aberrations cause meiotic disturbances, leading to the formation of abnormal gamete, which upon fertilization may either cause miscarriage or development of abnormal offspring. Therefore, detection of chromosomal abnormalities based on karyotyping can be used as a preliminary diagnostic test. In this retrospective study, the prevalence and type of chromosomal aberrations was estimated over a period of 4.3 years from July 2015 to October 2019. A conventional cytogenetic study was performed on 4204 infertile individuals using peripheral blood lymphocyte cultures by the standard procedure of GTG banding. The prevalence and type of various structural and numerical aberrations among infertile individuals were evaluated and the overall rate of chromosomal aberrations were 1.55 % (65/4204). Among these cases, structural aberrations were observed in 36 (55.4%) individuals and numerical aberrations in 25 (38.4%) individuals. Reciprocal translocations (38.4%) were the most prevalent structural aberrations observed. Rare genetic conditions such as disorders of sexual development (4.6%) and chimerism (1.6%) were also detected in our study. The high prevalence of chromosomal abnormalities observed in our study highlights the importance of karyotyping prior to fertility treatment for infertile individuals. This helps in genetic counselling on how to manage the risks of birth defects or genetic disorders by providing various alternative approaches for successful pregnancy through assisted reproductive technique.