Cytogenetics Evaluation of 261 Couples with First-Trimester Recurrent Pregnancy Loss: A Prevalent Case–Control Study

Abstract

Introduction: Recurrent pregnancy loss (RPL) is a common occurrence which affects approximately 15-20% of couples. Chromosomal abnormality is an important cause of recurrent abortions especially if either of the partner is a carrier of balanced translocation. The current study aimed to determine the prevalence of chromosomal abnormalities in couples suffering from first trimester RPL and compare with normal control. Materials and Methods: A prospective case-control study, in which 261 couples with history of two or more abortions were evaluated for various chromosomal abnormalities; and compared with 190 healthy couples with no history of abortion and at least one normal biological child. Peripheral blood T-lymphocytes were cultured using RPMI-1640 medium for obtaining metaphases and chromosomal analysis. SPSS software and Student’s t test were used. p value < 0.05 was considered statistically significant. Results: Among 261 couples in RPL group, 240(91.95%) had normal karyotype, 17(6.51%) had major chromosomal abnormalities and 04(1.53%) had polymorphic variants. Most of the couples had two abortions (39.8%). Females were more commonly affected with M:F=0.214. Structural abnormalities (n=12,70.59%) were more frequent than numerical abnormalities (n=5,29.41%). There was no statistical correlation between age, number of abortions and major chromosomal abnormalities (p=0.06). Conclusion: Chromosomal aberrations in carrier parents, predispose them to RPL and can also be transmitted to the offspring which may results in imbalance in their genetic constitution, thus justifying the requirement of cytogenetic testing in these patients.