Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure

Constitutional chromosomal aberrations contribute to infertility and repeated miscarriage leading to reproductive failure in couples. These aberrations may show no obvious clinical manifestations and remain undetected across multiple generations. However, infertility or recurrent spontaneous pregnancy loss, and/or genotypic/phenotypic aberrations may be manifested in the progeny during gametogenesis. The current study was a retrospective analysis to examine the chromosomal aberrations and prevalence in 2000 couples of Indian ethnicity with reproductive failure. Cytogenetic analysis via conventional G-band karyotyping analysis was carried out on phytohaemagglutinin stimulated peripheral blood lymphocytes, cultured in RPMI1640 medium. The chromosomes were enumerated as per International System for Human Cytogenetic Nomenclature at 500–550 band resolution, and recorded in the screening sheets. Chromosomal aberrations were detected in a total of 110 (2.78%) couples, with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. The study emphasizes the importance of cytogenetic work up in both the partners associated with a history of reproductive failure. Genetic counselling with an option of prenatal diagnosis should be offered to couples with chromosomal aberrations.Alteration in the number or structure of chromosomes is associated with adverse obstetric outcome in the form of infertility or recurrent miscarriages. Most of these aberrations are balanced and hence, the person does not manifest any obvious clinical signs and symptoms. However, because of the formation of abnormal gametes (i.e. the eggs and sperm), these chromosomal aberrations result in infertility and recurrent spontaneous pregnancy losses. In the present study, we studied 2000 couples of Indian ethnicity with reproductive failure. Karyotyping was done on the blood sample of these couples using standard protocols. Chromosomal aberrations were detected in a total of 110 (2.78%) couples with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. Thus, our study emphasizes the importance of cytogenetic work up in both the associated partners with history of reproductive failure which would help in better patient counselling and management.