Descriptive epidemiology of hereditary and congenital anomalies in Sialkot district, Punjab Pakistan

Abstract

Hereditary and congenital anomalies (CA) are a major group of anomalies that impair the structure or function of various organ-systems in the newborn. They may occur during intrauterine life causing ontogenetic development of fetus, at birth or later in life. They can be diagnosed prenatally or later in life. CA have multiple etiologies including genetic, infectious and environmental factors. An estimated 3 million fetuses are born with some kind of birth defect each year globally. CA contributes to 2-4 % of live births. Prevalence of CA differs from region to region depending on ethnicity and socio-cultural variables of that population. This descriptive epidemiological study was conducted in Sialkot district province Punjab, Pakistan, with an aim to establish distribution and pattern of CA considering the biological and sociodemographic factors of the studied population. Data were collected from different special child education centers across the city. Structured questionnaires were generated to collect phenotypic, familial and demographic data and pedigrees up to three generations were drawn. Data were entered and stored in MS Excel for further analysis and descriptive statistics was applied. A total of 198 independent index subjects/families were recruited during this study and two major groups of anomalies were encountered: hearing impairments/ear anomalies and neurological disorders. Hearing impairments constituted 98% (n=177) of all anomalies while neurological defects were 12% of total anomalies. Analysis of these 198 cases revealed that the presentation of male index subjects was higher compared to female index cases (63%vs. 37%). Most of the index subjects (46%) were 6-10 years of age. Sporadic cases were more prevalent (56%) than familial ones (44%). Isolated and non-syndromic cases predominate over syndromic ones. Extended family type was more common than nuclear family type because majority of population belonged to rural areas. Among 198 recruited index subjects, 1st parity was most VI common, i.e. 39%. The parental consanguinity was 75%. Average paternal age found was 35 years while average maternal age was 31 years. Due to it remote location from both federal and provincial capitals, very less is invested in healthcare sector of Sialkot district. The data generated through this study would be useful to in designing precautionary measures and management strategies for CA.