Genetic Mutations Reported in Patients of Consanguineous and Nonconsanguineous Marriages who Presented at a Tertiary Health Center for Genetic Counseling

Abstract

Background and objectives: It is vital to understand the function of every gene in the human genome, which determines the outcomes of an offspring based on copies of genes and the resulting phenotypes. Consanguinity is the sexual union or marriage between two individuals within their relatives (such as second cousins), sharing a common gene pool or biological ancestor. Hence, with the minimal information on consanguinity and the possible associated genetic mutations present in South Indian population. Methods: The data were collected by reviewing all the assessments done among parents identified to have 2nd-and/or 3rd-degree consanguineous marriage or genetic syndromes or any genetic abnormalities. The data analyzed were based on the records reviewed from 1st January 2018 to 31st May 2021, and ethical approval was obtained. Type of genetic mutations, fetal variables, maternal variables, paternal variables, and association of phenotypic outcomes in an individual born of consanguineous union were evaluated. Results: The study evaluated 529 parents with genetic syndromes or any genetic abnormalities, who were assessed in terms of consanguinity status and outcomes of the most recent pregnancy. It was found that more than half of the parents, 307 (58.0%), had a live baby born with congenital anomalies followed by 102 (19.3%) parents who had a normal live baby, abortions 90 (17.0%), and IUD 6 (1.1%). Conclusion: The incidence increases with the consanguinity, and therefore, it is imperative to educate our population against consanguineous marriages and thereby bring down the incidence of genetic syndromes. Mental and physical disabilities are the main outcomes of these conditions.