Beyond miscarriage: Chromosomal rearrangements and recurrent pregnancy loss – A cytogenetic study of eastern Indian population

Vollständiger Abstract

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Objective: To evaluate chromosomal abnormalities associated with recurrent pregnancy loss and to emphasise the role of cytogenetic analysis and genetic counselling in pregnancy planning. Methods: A cytogenetic observational study conducted at a tertiary care cytogenetics laboratory in Eastern India involving couples with a history of recurrent pregnancy loss. Detailed clinical and family histories were obtained from all couples. Peripheral blood samples were collected, and conventional karyotyping was performed using standard cytogenetic techniques. Chromosomal abnormalities identified were documented, and genetic counselling was provided based on the findings. Results: Both numerical and structural chromosomal abnormalities, including trisomies, monosomies, translocations, deletions, duplications, and inversions, were identified. Inherited as well as sporadic chromosomal rearrangements were observed, highlighting the significant contribution of genetic factors to recurrent pregnancy loss. Conclusions: Genetic abnormalities are an important cause of recurrent pregnancy loss and may be overlooked when focusing only on non-genetic factors. Cytogenetic evaluation, along with appropriate genetic counselling, aids in identifying underlying chromosomal causes and supports couples in informed pregnancy planning.