Congenital anomalies prevalent in rural population of Dera Ismail Khan, Pakistan: Ethnic inequalities and biodemographic attributes.

Objectives: Congenital anomalies (CA) have a high prevalence in Pakistan, but regional and ethnic differences remain less appreciated. This study was aimed to observe the pattern and ethno-demographic distribution of CA in the extended Dera Ismail Khan region of Pakistan. Methodology: In a descriptive clinico-epidemiological study, families/subjects with CA were recruited from a variety of sources, including district headquarters hospitals, community centers, rural organizations, and door-to-door surveys. Phenotypic and biodemographic data were recorded. Descriptive statistics was applied. This study was conducted from June 2022 to May 2024. Results: This study included 637 independent individuals (73% males) with certain types of CA. Pediatric patients were 70% of the sample; the majority originated from rural areas (71%) and Saraiki background (88%) and belonged to Jaat and Pathan ethnicities (40%). CA were classified into nine major and 90 minor entities. Among major categories, neuromuscular disorders were most frequent (32%), followed by neurological disorders (24%), sensorineural/ear defects (15%), limb defects (9%), eye/visual impairments (6%) musculoskeletal defects (4%), blood disorders (4%), ectodermal anomalies (3%), and others (4%). Sporadic occurrence was witnessed in 51% of the cases and parental consanguinity in 71%. There were statistically significant differences in the distribution of major categories of CA with respect to rural/urban origin, mother tongue, and ethnicities. Conclusion: Neuromuscular and neurological disorders, and sensorineural/ear defects had the highest burden in the study population and also showed remarkable disparities across various ethnic groups. The impact of such defects can be reduced through improved health, education, antenatal and prenatal care, pre-marital counseling, and molecular diagnosis of CA.