Prevalence-Pattern of Congenital Anomalies in the Population of Sukkur Region

Abstract

Congenital anomalies (CA), also known as birth defects, occur as a result of functional or structural abnormalities. They may occur during intrauterine life causing ontogenetic development of fetus, at birth or later in life. CA are caused by a variety of factors, including genetic defects, chromosomal abnormalities, environmental teratogens, and a lack of micronutrients. Every year, an estimated 3 million fetuses are born with a birth defect. This descriptive epidemiological study was conducted in the population of Sukkur region of Sindh, Pakistan, with an objective to establish prevalence-pattern of CA considering the biological and socio-demographic variables of the studied population. In this epidemiological study, 311 families/index subjects were identified through a variety of sources, including special children's schools, rehabilitation centers, hospitals, and door-to-door survey conducted in certain rural areas. Structured questionnaires were created to collect phenotypic, familial, and demographic data, and pedigrees up to three generations were drawn. The data were entered and saved in Microsoft Excel for further analysis, and descriptive statistics were applied. The ascertained anomalies and index subjects were classified into five major categories. The representation of sensorineural/ear defects was highest, i.e., (63%). The second most prevalent CA was limb defects (14%), followed by visual/eye impairments (10%), and neurological disorders 6% (n=20). The ascertained index cases included 72% male and 28% female. The low contribution of female subjects could be attributed to the limited sampling strategy and conservative society. The highest number of cases were found in the age category of >10-20 years with a percentage of 45% (n=141). Familial cases were more common (67%) than sporadic cases (33%). Isolated cases were represented 96% (n=299) more than syndromic cases 4% (n=12). Many index cases belonged to low economic status. The second parity 1 was the most common, accounting for 30% of the total recruited index subjects. The percentage of parental consanguinity was 70%. The average paternal age was 35 years, and the average maternal age was 31 years. The current study provides valuable information about the prevalence pattern of CA in the study area, which will be useful for future research. CA awareness programs, genetic counselling, and prenatal diagnosis can all help to reduce disease risks. High prevalence of familial cases suggest that high level of consanguinity, ethnicity, and socio-cultural norms may have important etiological roots in the study area.