Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders

Abstract

Abstract Background Pakistan faces high incidence of congenital anomalies (CA) and hereditary anomalies due to various factors, including a high rate of consanguinity, early marriages, and predominance of extended families. There is a paucity of epidemiological studies that could provide a baseline for management strategies for these anomalies. Objectives We aimed to elucidate the pattern, as well as the clinical and genetic aspects, of CA prevalence among the general population in Sialkot District of Pakistan. Methods In a cross-sectional sampling design, subjects and families with a certain type of CA were recruited from hospitals and medical centers in Sialkot District. Subjects were also selected from various towns and remote villages by visiting public places. Phenotypic and descriptive data were obtained, pedigrees were constructed, and parental and demographic attributes were recorded. Results A total of 241 independent subjects and/or families with CA were recruited. The malformations were classified into five major and 56 minor categories. Limb defects had the highest representation (n = 113; proportion = 0.469; 95% confidence interval (CI) = 0.406–0.532), followed by neurological anomalies (n = 76; proportion = 0.315; 95% CI = 0.257–0.374). Among the limb defects, polydactyly and talipes were most prevalent while, among neurological disorders, intellectual disability and cerebral palsy were more frequent. In this cohort, sporadic occurrence was customary compared to the familial presentation (n = 144 vs 97). Analyses of various attributes, such as gender differences, parental consanguinity, and paternal ages, as well as pedigree analyses, revealed marked heterogeneity among the major and minor categories of CA. Conclusion The pattern of anomalies witnessed in this cohort and a high occurrence of sporadic cases point to a substantial role of nongenetic etiological factors, which could be minimized by strengthening the health-care system.