CHROMOSOMAL ABNORMALITIES IN HUMAN REPRODUCTIVE FAILURE: A RETROSPECTIVE STUDY FROM A TERTIARY CARE CENTRE

Chromosomal abnormalities are important cause of human reproductive failures, which may manifest as pregnancy loss or infertility. Objectives: To determine the prevalence of chromosomal abnormalities in couples with recurrent pregnancy loss (RPL) and primary infertility. Methods:Cytogenetic evaluation (karyotyping and fluorescent in situ hybridisation) of peripheral blood T-lymphocytes on 61 couples with two or more clinically proven pregnancy losses with or without history of stillbirth or children with congenital malformations; and 51 females and 63 males with primary infertility. Results: Overall rate of major chromosomal abnormalities in human reproductive failure was 10.2%. 61 Couples with RPL had major cytogenetic abnormality in 6.5% cases. 114 patients with female and male primary infertility had 13.7% and 14.2% as major anomalies, respectively.Structural abnormalities(4.9%) were more common in RPL group, while numerical anomalies (8.8%) were common in infertility. Polymorphic variants were seen in 6.3% of all the cases. Conclusion:Cytogenetic evaluation is an essential screening & diagnostic tool in reproductive failures, as appropriate therapeutic strategies along with genetic counselling can be advised to couples with chromosomal abnormalities.