Hereditary and congenital anomalies prevalent in Loralai district of Balochistan

Abstract

Birth defects or congenital anomalies are caused by structural or functional abnormalities during the course of intrauterine development. Numerous things, including chromosomal abnormalities, environmental teratogens, and gene defects, can lead to CA. A lack of certain micronutrients aetiologies for around 50% of CA are unknown. Children’s disabilities and deaths are attributed mostly to CA in both developing and wealthy nations. This study's goal was to investigate the range of congenital and inherited abnormalities and their relationships to different demographic factors. In this study a total of n = 371 families were find out in different urban and rural areas of the loralai district. The data is collected from door-to-door survey, not from any hospital or other social welfare society of the district. The methodology was completely dependent on coordination between researchers and the study population which includes families and subjects. In the study the index subjects were diagnosed by their medical reports, photographs and family history of the disease in familial cases. The total collected date were classified into 9 categories in which neurological disorders were most prevalent n = 80 ( 22%) , followed by limb defects n = 78 (21%) , neuromuscular defects n = 67 (18%) , blood disorders n = 57(15%) , sensorineural defects n = 42(11%) , eye/visual impairment n =24 (6%) , musculoskeletal defects n = 8 (2%) , orofacial defects n= 8 (2%) and cardiovascular defects n = 5 (1%). We were observed n = 32 different types of minor anomalies in the population of loralai district in which cp were most prevalent n = 57 , followed by thalassemia n = 54 and than intellectual disorder n = 51.In the study we find out male were more affected n = 233 than female n = 138. Sporadic cases were more common n = 271 than familial n = 100. Isolated cases were more prevalent n =277 than the syndromic cases n = 94 , while neurological and neuromuscular defects syndromic were most common .Most of the subjects belonged from low economic status families. Parental consanguinity was 50% in the studied area and 50% non consanguinity was present. The results of the current study will be beneficial for future investigation and give relevant information regarding the prevalence of CA in the studied region. Genetic counselling, prenatal diagnostics, and CA awareness campaigns can all lower illness chances. In underdeveloped nations with low levels of income, the high prevalence of CA imposes a major socioeconomic cost.