European Journal of Molecular & Clinical Medicine

Abstract

Background and Objectives - The advancement in genetics has shown that recurrent pregnancy loss is associated with chromosomal abnormalities. The main objective of this study is to find out the percentage of underlying chromosomal abnormalities in cases of recurrent pregnancy loss.
Result - Out of 50 patients (16 males and 34 females) studied for karyotyping, 7 (14%) were found positive for chromosomal abnormality leading to RPL. The 4 females and 3 males with abnormalities had structural chromosomal variations; 4 heteromorphism and 3 inversion types. Chromosomes 9, 21, and Y were associated with the abnormalities, with chromosome 9 being the most frequent. The age group 26-35 years and patients with more than 4 previous abortions had a higher prevalence of chromosomal abnormalities leading to RPL. Hypertension, consanguinity, and asthma may also have some associations with RPL.
Conclusion- Chromosome 9 was the most commonly affected chromosome in both male and female patients with RPL, showing heteromorphisms and pericentric inversions. Of the 7 patients with chromosomal abnormalities, 4 were female and 3 were male, highlighting the importance of cytogenetic testing for both parents and offering alternative options for future offspring.