Prevalence of congenital deformities in Kot Addu district

Abstract

Congenital deformities (CD) also known as birth defects arise due to functional or structural abnormalities during the developmental process in the intrauterine life. CD is caused by many factors like a defect in a gene, chromosomal aberrations, environmental teratogens, and micronutrients deficiency. About 50% of CD are of unknown aetiology. These are considered as the main cause of disability and mortality among children in developing and developed countries.The objective of this study was to explore the prevalence of CD and their association with various demographic variables in Kot Adu district. In this epidemiological study, a total of 295 families/ index subjects were ascertained. There was no proper data on CD available in the hospitals, the only source to collect data and to find subjects with certain CD was door to door survey. This method was completely dependent on cooperation and coordination between researcher and study population. The subjects with CD were diagnosed with the help of medical practitioners and the diagnosis was confirmed through online databases like OMIM. The ascertained deformities and index subjects were classified into six major categories. The representation of neurological disorders was highest, i.e., 30% (n=88). The second most prevalent CD was neuromuscular defects 28% (n=82), followed by sensorineural/ear defects 18% (n=53), eye/visual impairment 9% (n=28), musculoskeletal defects 7% (n=21), limb defects 6% (n=17) and 2% other defects. Among the ascertained index cases, 69% (n=204) were male and 31% (n=91) were female. The low contribution of female subjects may be attributed to the restricted sampling approach in rural areas. Sporadic cases, 72% (n=214) were more prominent than the familial cases 28% (n=81). Isolated cases representation was higher 61% (n=181) than syndromic 39% (n=114). Many index subjects fall in the poor economic quartile. The representation of the index subjects was highest at 27% (n=81) in the age range of >10-20 years. The highest incidence concerning birth order was recorded with 1st parity 28% (n=60) in case of sporadic cases. Among 81 familial cases 66% (n=54) were segregated in one generation. Consanguineous unions recorded were 69% (n=204). The current study provides valuable information about the prevalence of CD in the vii study area, which will be useful for future research. Awareness campaigns regarding CD, genetic counselling, and prenatal diagnosis can help to reduce disease risks. The high frequency of CD in developing countries imposes a significant socioeconomic cost due to low per capita income. High consanguinity and a high occurrence of sporadic cases suggest the involvement of both, genentic and non-genetic factors and a high potential for primary prevention. This study provides a baseline for future molecur genetic study for the broader understanding of CD.