Prevalence of Congenital Defects among Consanguineous Marriages in Pakistan

Abstract

Background: Consanguineous marriages are marriages within the family i.e between two first cousins. It has been discovered that a greater risk of developing congenital defects in the progeny is observed if the parents are related. In Pakistan, due to cultural and religious trends, marriages within families are rising with time and this leaves Pakistan among the top few countries which have been a common interest of investigators, social scientists, medical researchers, biologists, and physicians who are interested in congenital abnormalities that are inherited from consanguineous parents. The goal of our study is to evaluate the prevalence of congenital defects in children who are a result of consanguineous marriages in the region of Pakistan and also highlight the possible hindrances in further investigation and prevention of congenital defects in children of related parents. This will help us in identifying the extent of this problem and possible policies that can be implemented to reduce congenital abnormalities in Pakistan. Methodology: We looked for, gathered, and assessed literature that reported the prevalence of congenital defects in children of consanguineous marriages in the region of Pakistan from 2014 to 2022 on PubMed, Google Scholar, and Cochrane. Combination keywords such as consanguineous marriages, consanguinity, congenital defects, congenital disorders, congenital malformations, congenital diseases, congenital disabilities, and Pakistan have used Full-text original studies in the English language done from 2014 to 2022 were included. The search was carried out following PRISMA standards. Results: We identified 10 articles that met the criteria set for selection based on our topic of research. The results showed that there was a significant increase in congenital abnormalities if the Parents of that child were consanguineous. Consanguinity influenced the number of stillbirths and abortions as well and in children born to such parents 2 to 4 percent of live births and congenital abnormalities of physical, mental, or cosmetic origin. It was analyzed that parents who were first cousins had greater incidences of having a congenitally inherited abnormality than second or third cousins. There were fewer chances of developing congenital disorders in children whose parents were unrelated. Conclusion: It is concluded that parents who are related by blood have a higher incidence of having babies with mental retardation, congenital deafness, congenital heart disease, and various other autosomal recessive disorders. Therefore it’s the need of the hour to create public awareness to lower the risk of congenital defects and improve the facilities of genetic testing in Pakistan for early detection and improvement in the living standard of affected children. Our study serves to create awareness among families to avoid consanguineous marriages and urge to improve the community programs for children born with a congenital defect.