Genetic Analysis of Recurrent Pregnancy Loss: Role of Karyotyping in Understanding Pathogenesis and Management

Abstract

Introduction: Recurrent pregnancy loss (RPL) is defined as two or more spontaneous pregnancy losses within 20–24 weeks of the gestational period, which typically occur in the early stages of pregnancy. Various factors can contribute to RPL, including genetic factors, hormonal imbalances, uterine abnormalities, autoimmune disorders, infections, and lifestyle factors. Materials and methods: This study involved the conventional karyotyping of women facing RPL with the G-banding method and the culture procedure of leukocytes. The statistical analysis was done by IBM SPSS 20 after the biochemical data collection and karyotyping results. Results: The total samples were collected from 160 couples, out of which only 130 were successfully done with conventional karyotyping. It was noted in this study that the genetic rearrangement in female partners was found to be 11.5%, excluding the anatomical, immunogenic, and hormonal factor dysfunctions. The advanced maternal age and primary RPL were found to be more actively causing recurrent miscarriages. Conclusion: These investigations emphasize the importance of genetic analysis in RPL cases, biochemical, and cytogenetic analysis. The karyotyping must be done to rule out any chromosomal rearrangement in male and female partners. The previous family history may indicate the likelihood of carrying chromosomal rearrangements; thus, further study needs to be done in large populations. © (2025), (Jaypee Brothers Medical Publishers (P) Ltd). All rights reserved.